Genes Phenotypes Help, News, Blog

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

Gene: Pax9 MGI:97493

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

paired box 9

Synonyms:

Pax-9

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 Pax9 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 Pax9 (2 diseases)
Human diseases predicted to be associated with Pax9 (2184 diseases)

The table below shows human diseases associated to Pax9 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Oligodontia		Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Tooth Agenesis, Selective, 3		Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625

The table below shows human diseases predicted to be associated to Pax9 by phenotypic similarity.

Disease	Matching phenotypes	Source
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Incisors, Rotation Of Upper Central	Rotated maxillary central incisors	OMIM:147350
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Diastema, Dental Medial	Diastema, Widely-spaced maxillary central incisors	OMIM:125900
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Taurodontism	Taurodontia	OMIM:272700
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Atrophic scars, Enamel hypoplasia	OMIM:226700
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture	OMIM:203550
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Nasogastric tube feeding in infancy, Dyspnea, Temporomandibul...	ORPHA:141152
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate...	OMIM:311895
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79405
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnormality of the ne...	ORPHA:294975
Osteoglosphonic Dysplasia	Tooth agenesis, Multiple unerupted teeth, Inguinal hernia, Micrognathia	ORPHA:2645
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Protruding ear, Finger cl...	ORPHA:2751
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate...	OMIM:268305
Hall-Riggs Syndrome	Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape...	OMIM:234250
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Narro...	ORPHA:2063
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue	OMIM:226670
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Camptoda...	OMIM:618761
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612463
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79406
22Q11.2 Duplication Syndrome	Ventricular septal defect, Micrognathia, Cleft palate, Hypoplastic left heart, Transposition of t...	ORPHA:1727
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition...	OMIM:216300
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Genitopalatocardiac Syndrome	Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp...	OMIM:231060
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious...	OMIM:618363
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
48,Xyyy Syndrome	Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia	ORPHA:99329
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Microdontia, Agenesis of molar, Supernumerary tooth, Diastema	OMIM:619718
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
W Syndrome	Hypoplasia of the ulna, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus adductus, Submu...	ORPHA:2804
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Abnormality of the ear, Cleft palate, Split foot, Malar...	OMIM:183700
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia, Shagreen patch	ORPHA:1816
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79411
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Acrootoocular Syndrome	Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, Decreased response to gro...	ORPHA:2980
Auriculocondylar Syndrome 2A	Respiratory distress, Dental crowding, Apnea, Micrognathia, Glossoptosis, Mandibular condyle apla...	OMIM:614669
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate	ORPHA:3019
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ...	ORPHA:860
Monosomy 22	Low-set, posteriorly rotated ears, Finger syndactyly, Aplasia of the thymus, Single transverse pa...	ORPHA:96123
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c...	OMIM:616788
Orofaciodigital Syndrome Xviii	Brachydactyly, Sandal gap, Single transverse palmar crease, Accessory oral frenulum, Postaxial po...	OMIM:617927
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Micrognathia, Eruption fa...	OMIM:619322
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Downturned cor...	OMIM:620186
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplastic right heart, Ventricular septal defect, Overlapping toe, Micrognathia, Postaxial poly...	OMIM:618142
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Hear...	ORPHA:364577
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Abnormality of the hand, Cryptorchidism, Velophary...	OMIM:192430
Perching Syndrome	Respiratory distress, Feeding difficulties, High palate, Scoliosis, Dysphagia, Joint contracture,...	OMIM:617055
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia	OMIM:612843
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Hypoplasia of the maxilla, Accessory oral frenulum, Preaxial hand po...	ORPHA:79113
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename...	OMIM:613823
Qazi-Markouizos Syndrome	Torticollis, Tapered finger, High, narrow palate, Abdominal distention, Cryptorchidism, Hypoplasi...	ORPHA:3010
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Micrognathia, ...	OMIM:179613
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar...	ORPHA:228190
48,Xxyy Syndrome	Apnea, Feeding difficulties in infancy, Abnormal shoulder morphology, Gastroesophageal reflux, Cl...	ORPHA:10
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Posteriorly rotated ears, Micrognathia, Dyspnea, Gingival fibromatosis, Gin...	ORPHA:1832
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary arte...	OMIM:618845
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short...	OMIM:604381
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Respiratory distress, Micrognathia, Feeding difficulties, Wide mouth, Widely s...	OMIM:300934
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia	OMIM:212780
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo...	OMIM:253250
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Facial palsy, Increased variability in muscle fibe...	OMIM:614399
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Heterotaxy, Visceral, 7, Autosomal	Atrial septal defect, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totali...	OMIM:616749
Arthrogryposis, Distal, Type 1C	Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly of toe, Wris...	OMIM:619110
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Decreased response to growth hormone stimulation test, Adr...	OMIM:220210
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, High, narrow palate,...	OMIM:616920
Lethal Congenital Contracture Syndrome 10	Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Short n...	OMIM:617022
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Anteriorly placed anu...	OMIM:211380
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of the capital fe...	OMIM:190351
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Skeletal muscle atrophy, Rocker bottom foot, Lower limb mu...	ORPHA:1143
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Omphalocele	OMIM:614450
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Tracheal stenosis, Micro...	OMIM:300712
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious...	OMIM:617102
Eem Syndrome	Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo...	ORPHA:1897
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma...	ORPHA:166108
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli...	OMIM:618727
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Posteriorly rotated ears, Micrognathia, High, narrow palate, Supernumerary too...	ORPHA:1787
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o...	ORPHA:2669
Holoprosencephaly 9	Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test, Cleft upper ...	OMIM:610829
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Sh...	ORPHA:250989
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla...	OMIM:619719
Snijders Blok-Campeau Syndrome	Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia	OMIM:618205
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Moebius Syndrome	Respiratory distress, Micrognathia, Feeding difficulties in infancy, Congenital fibrosis of extra...	OMIM:157900
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Micrognathia, Crypto...	ORPHA:3304
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Abnormal earlobe mor...	OMIM:186350
Filippi Syndrome	Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors	OMIM:272440
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Rubinstein-Taybi Syndrome 2	Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas...	OMIM:613684
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypoplasia of teeth	OMIM:613312
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, A...	OMIM:619797
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology	ORPHA:59303
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids	OMIM:175100
Cleft Velum	Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insuf...	ORPHA:99772
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79409
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
Odontochondrodysplasia 1	Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger,...	OMIM:184260
Braddock-Carey Syndrome 1	Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod...	OMIM:619980
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide...	OMIM:300602
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Neon...	OMIM:265380
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Underfolded helix, Cleft...	OMIM:620107
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Cole-Carpenter Syndrome 1	Microdontia, Dentinogenesis imperfecta, Micrognathia	OMIM:112240
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Abnormality of cartilage o...	ORPHA:3426
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Split hand, Vertebral segmentation defect, Foot polydactyly, Phocomelia, D...	ORPHA:3004
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Cryptorchidi...	OMIM:618393
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum	OMIM:618825
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t...	OMIM:620045
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ...	ORPHA:79410
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Mesomelic/rhizomelic limb shor...	ORPHA:1354
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s...	ORPHA:90322
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo...	ORPHA:2631
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Rocker bottom foot, Single transverse palmar crease, Micrognathia, Respi...	OMIM:611890
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Nasogastric tube feeding in infan...	ORPHA:93316
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Thoracolumbar scoliosis, Aplasia/Hypoplasia o...	OMIM:113000
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, High palate, Persistence of primary teeth	OMIM:619752
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Eruption failure, High palate, Long ...	ORPHA:476126
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Micrognathia, Cryptorchidism, Tetralogy of Fallot, Cleft palate, Tooth...	ORPHA:1166
Aase-Smith Syndrome	Abnormal pinna morphology, Camptodactyly of finger, Trismus, Cleft palate, Aplasia/Hypoplasia of ...	ORPHA:916
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous ...	OMIM:617478
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Abnormal palate morphology, Abnormality of the dentition	ORPHA:3270
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Bilateral single ...	ORPHA:502
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros...	OMIM:616331
Oculoskeletodental Syndrome	Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia	ORPHA:557003
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Short philtrum, Atrial septal defect, Pulmonary artery atresia, Patent fo...	OMIM:618316
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ...	ORPHA:2769
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Short philtrum, Atrial septal d...	ORPHA:163979
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology	ORPHA:3353
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid distal phalanx of the thumb, Short distal phalanx of hallux, Partial duplication of the dis...	OMIM:256200
Congenital Disorder Of Glycosylation, Type Iik	Malar flattening, Amelogenesis imperfecta	OMIM:614727
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Arthrogryposis multiplex congenita, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Zimmermann-Laband Syndrome	Hallux valgus, Micrognathia, Splenomegaly, Supernumerary tooth, Sensorineural hearing impairment,...	ORPHA:3473
Feingold Syndrome 1	Micrognathia, Asplenia, High palate, Accessory spleen, Esophageal atresia, Patent ductus arterios...	OMIM:164280
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Sinusitis, Aplasia of the thymus, Severe...	OMIM:102700
Oculofaciocardiodental Syndrome	Feeding difficulties in infancy, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short ...	ORPHA:2712
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Abnorma...	ORPHA:949
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Brachydactyly, Camptodact...	ORPHA:1327
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abdominal distention, Abnormal carpal...	ORPHA:85166
Skraban-Deardorff Syndrome	Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid...	OMIM:617616
Laron Syndrome	Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia	ORPHA:633
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho...	ORPHA:915
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Abnormality of the dentition	ORPHA:2501
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth	OMIM:619356
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Delayed eruptio...	OMIM:620099
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturn...	ORPHA:1110
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Ventricular septal defect, Micrognathi...	ORPHA:261120
Kniest Dysplasia	Respiratory distress, Enlarged joints, Delayed epiphyseal ossification, Coxa vara, Tibial bowing,...	OMIM:156550
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:3201
Feingold Syndrome Type 1	Toe syndactyly, Jejunal atresia, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2n...	ORPHA:391641
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:114300
Gordon Syndrome	Finger syndactyly, Decreased muscle mass, Camptodactyly of finger, Cryptorchidism, Cleft palate, ...	ORPHA:376
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ...	OMIM:618342
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Auriculocondylar Syndrome	Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M...	ORPHA:137888
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin...	ORPHA:2876
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Otopalatodigital Syndrome, Type I	Omphalocele, Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted te...	OMIM:311300
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered fin...	OMIM:612350
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Camptodactyly, Flexion contracture, Accessory oral frenulum, Hypoplasia of teeth	ORPHA:88630
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ...	OMIM:615042
Chromosome 22Q11.2 Duplication Syndrome	Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, High palate, Low-set ears	OMIM:608363
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic a...	OMIM:614846
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia	OMIM:601345
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Beaking of vertebral bodies, Genu recurvatum, C...	ORPHA:137834
48,Xxxy Syndrome	Mandibular prognathia, Pulmonary embolism, Gastroesophageal reflux, Clinodactyly of the 5th finge...	ORPHA:96263
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet...	ORPHA:2250
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Cryptorchidism, Preaxial hand polydactyly, Orofacial cleft, Low posterior hairli...	ORPHA:85287
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612462
Acrofacial Dysostosis, Catania Type	Carious teeth	OMIM:101805
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Chroni...	OMIM:602450
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Orofaciodigital Syndrome Iv	Toe syndactyly, Accessory oral frenulum, Micrognathia, Hamartoma of tongue, Postaxial polydactyly...	OMIM:258860
Trisomy 4P	Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormality of the dentition, Carious...	ORPHA:1738
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,...	ORPHA:1133
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r...	OMIM:218400
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Subglottic stenosis, Atrial septal defect, Toe syndactyly, Thoracic aortic aneurysm, Intestinal m...	OMIM:619657
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Sinusitis, Aplasia of the thymus, Decreased pr...	ORPHA:83471
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h...	OMIM:618874
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl...	ORPHA:2549
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti...	ORPHA:3220
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Craniosynostosis, Coarctation of aorta, Hand polydacty...	ORPHA:261243
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped m...	OMIM:617926
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Branchiootic Syndrome	Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the in...	ORPHA:52429
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal...	OMIM:215045
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture...	ORPHA:1145
Cleidocranial Dysplasia 1	Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ...	OMIM:119600
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Abdominal distention, Respiratory insufficiency, Umbilical hernia, ...	OMIM:600972
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Delayed epiphyseal o...	ORPHA:226313
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,...	OMIM:183600
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia	OMIM:103580
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth	ORPHA:375
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
49,Xxxxy Syndrome	Mandibular prognathia, Pulmonary embolism, Gastroesophageal reflux, Clinodactyly of the 5th finge...	ORPHA:96264
Hypoglossia With Situs Inversus	Respiratory distress, Micrognathia, Feeding difficulties in infancy, Asplenia, Malnutrition, Uppe...	OMIM:612776
Cranioectodermal Dysplasia 4	Thin vermilion border, Smooth philtrum, Taurodontia	OMIM:614378
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Kyphoscoliosis, Hearing impairment, Splenomegaly, Sen...	OMIM:616354
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Malar flattening, Clinodactyly	OMIM:615984
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand polydactyly, A...	ORPHA:3098
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Anterior pituita...	OMIM:619841
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	ORPHA:2563
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename...	OMIM:226600
Gardner Syndrome	Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple unerupted teeth, Lipoma, Ke...	ORPHA:79665
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Robinow Syndrome, Autosomal Recessive 2	Posteriorly rotated ears, Cleft soft palate, Broad hallux, Micrognathia, Abnormality of the denti...	OMIM:618529
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Feeding difficulties in infancy,...	ORPHA:819
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	OMIM:300845
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Micrognathia, Respiratory insufficiency due to muscle weaknes...	OMIM:300580
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Skeletal muscle atrophy, Thoracic scoliosis, Respiratory distress, High pa...	OMIM:620278
Atelosteogenesis Type Ii	Laryngeal stenosis, Cervical kyphosis, Micromelia, Micrognathia, Tracheobronchomalacia, Short pha...	ORPHA:56304
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp...	OMIM:277440
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Osteolysis inv...	ORPHA:371428
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, High palate, Dental malocclusion	OMIM:618292
Cole-Carpenter Syndrome 2	Microretrognathia, High palate, Dentinogenesis imperfecta	OMIM:616294
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses...	OMIM:305620
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn...	OMIM:616300
Lethal Recessive Chondrodysplasia	Respiratory distress, Micromelia, Micrognathia, Macroglossia, Short long bone, Flared elbow metap...	ORPHA:1423
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per...	ORPHA:46627
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma...	OMIM:201000
Epidermolysis Bullosa, Lethal Acantholytic	Neonatal death, Natal tooth	OMIM:609638
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu...	OMIM:620011
Atelosteogenesis, Type I	Laryngeal stenosis, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal dea...	OMIM:108720
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia	OMIM:605282
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Poste...	OMIM:600325
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Diastasis recti, Delayed closure of the anterior fontanelle, Feeding difficultie...	ORPHA:231140
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin...	OMIM:619269
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc...	ORPHA:64754
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus, Deep philtr...	OMIM:619717
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Micrognathia, Carious ...	OMIM:214150
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	High palate, Persistence of primary teeth	OMIM:147060
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Cleft upper lip, Abdominal distention, Cleft palate, Poly...	OMIM:613885
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Sandal gap, Abnormal pinna morphology, Hearing impairment, Cryptorchid...	OMIM:614607
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
Oslam Syndrome	Carious teeth	ORPHA:2760
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of the external auditory ...	OMIM:141400
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Microg...	ORPHA:2754
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth	OMIM:241510
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bicuspid aortic valve, Spina bifida, Proximal placement of thumb, Abnormal thum...	ORPHA:1120
Coffin-Siris Syndrome 3	Central diaphragmatic hernia, Short distal phalanx of the 5th finger, Cleft palate, Feeding diffi...	OMIM:614608
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide...	OMIM:619293
Ohdo Syndrome	Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo...	OMIM:249620
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth	OMIM:616108
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion border, Hypodo...	OMIM:619184
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower...	OMIM:249670
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Bloom Syndrome	Syndactyly, Elevated hemoglobin A1c, Cryptorchidism, Bronchiectasis, Agenesis of maxillary latera...	OMIM:210900
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme...	OMIM:261540
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet r...	OMIM:620294
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Death in infancy, Lumbar hyperlordosis, Flat acetabu...	OMIM:256050
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Broad met...	ORPHA:1540
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate	OMIM:617337
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft upper lip, Micrognat...	OMIM:612561
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal b...	ORPHA:90652
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palat...	OMIM:188400
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Leukopenia, Pulmonary artery atresia, Cryptorchidism, Postaxial foot polydac...	OMIM:301056
Athyreosis	Thyroid agenesis, Abdominal distention, Feeding difficulties, Macroglossia, Constipation, Hypothy...	ORPHA:95713
Scarf Syndrome	Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ...	ORPHA:3134
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Clinodactyly, Hypoplastic pubic bone, C...	OMIM:184250
Craniosynostosis 3	Dental malocclusion	OMIM:615314
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Single transverse palmar crease,...	OMIM:617866
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Snail-like ilia, Flat ac...	OMIM:269250
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Sensorineural hearing impairment, Cleft palate, Glossoptosis, Long philtrum, Malar ...	ORPHA:166100
Achondrogenesis Type 1A	Micromelia, Micrognathia, Abdominal distention, Short foot, Short palm, Umbilical hernia, Long ph...	ORPHA:93299
Gapo Syndrome	Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum, Um...	OMIM:230740
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate	OMIM:262190
Endocrine-Cerebroosteodysplasia	Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Single trans...	OMIM:612651
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Cryptorchidism, ...	ORPHA:65759
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Aortic ro...	OMIM:616652
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Hyper...	OMIM:615761
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Short neck, Micrognathia, High, narrow palate, Cleft palate, Abnormal ...	ORPHA:2516
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Auriculocondylar Syndrome 3	Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ...	OMIM:615706
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Familial Visceral Myopathy	Low-set, posteriorly rotated ears, Hyperparathyroidism, Arachnodactyly, Camptodactyly of finger, ...	ORPHA:2604
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Malar flattening, High palate, Abnormal dental enamel morphology	ORPHA:2180
Bent Bone Dysplasia Syndrome 1	Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia	OMIM:614592
Immunodeficiency 9	Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Vertebral...	ORPHA:1507
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Wormian bones, Coxa valga,...	OMIM:269300
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Micromelia, Micrognathia, Feeding difficulties in infancy, Coxa v...	ORPHA:800
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin...	ORPHA:254864
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Bilateral cleft lip and palate, Conical tooth	ORPHA:1997
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr...	OMIM:210600
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subp...	OMIM:264700
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Malar flattening, Supernumerary tooth, Thin vermilion border, Thick vermilion border	ORPHA:86818
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology, Hearing impairment	ORPHA:2291
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnorma...	ORPHA:263463
Adams-Oliver Syndrome 4	Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ...	OMIM:615297
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Abdominal distention, Diarrhea, Cryptorchidism, Thrombocytopenia, Anemia, Vomit...	OMIM:608104
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava draining directly to the ...	OMIM:613759
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Death in infancy, Micrognathia, Thyroid lymphangiectasia, Abdominal dis...	OMIM:235255
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Enc...	ORPHA:861
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Downturned corners of mouth, Advanced e...	ORPHA:2215
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Mixed hearing impairment, Macrocytic anemia, Posteriorly rotated ears, Cong...	OMIM:606164
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph...	ORPHA:2872
Catel-Manzke Syndrome	Ventricular septal defect, Camptodactyly of finger, Micrognathia, Metatarsus valgus, Radial devia...	ORPHA:1388
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Cohen Syndrome	Thoracic scoliosis, Single transverse palmar crease, Decreased response to growth hormone stimula...	OMIM:216550
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Micrognathia, High, narrow p...	OMIM:619941
Osteogenesis Imperfecta, Type Xiii	Thin vermilion border, Dentinogenesis imperfecta, Long philtrum	OMIM:614856
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Ventricular septal defect, Short neck...	OMIM:615583
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, San...	ORPHA:477817
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Fryns Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Abnormal aortic arch morphology, High palat...	ORPHA:2059
Maternal Phenylketonuria	Ventricular septal defect, Micrognathia, Bifid distal phalanx of the thumb, Esophageal atresia, C...	ORPHA:2209
Thyroid Hemiagenesis	Thyroid agenesis, Abdominal distention, Macroglossia, Constipation, Umbilical hernia	ORPHA:95719
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Cleft palate...	OMIM:246560
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus, Death in childhood	OMIM:200900
Trichorhinophalangeal Syndrome, Type I	Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Protruding ear, Cone-shaped epiphy...	OMIM:190350
Hamel Cerebro-Palato-Cardiac Syndrome	Death in infancy, Arachnodactyly, Micrognathia, Cupped ear, Cleft palate, Narrow mouth, Malar fla...	ORPHA:93946
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Posteriorly rotated ears, Facial palsy, Micrognathia, Hyperlordosis, H...	ORPHA:2780
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Patent ductus arteriosus, Abnormal cardiac ventricle morphol...	ORPHA:2306
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Respiratory distress, Ankle flexion contracture, Micrognathia, High, narrow palate, S...	OMIM:608799
Hypophosphatasia, Adult	Carious teeth, Premature loss of permanent teeth, Premature loss of primary teeth	OMIM:146300
Peroxisome Biogenesis Disorder 2A (Zellweger)	Apnea, Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cryptorchidism, Cleft ...	OMIM:214110
Heart Defects, Congenital, And Other Congenital Anomalies	Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricuspid valve, Patent foramen ovale, A...	OMIM:600001
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Hypop...	OMIM:166250
Native American Myopathy	Skeletal muscle atrophy, Submucous cleft soft palate, Micrognathia, Cryptorchidism, Abnormality o...	ORPHA:168572
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Abnormal form of ...	ORPHA:950
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Aqueductal stenosis, Dextrotransposition of t...	OMIM:306955
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphosc...	OMIM:614815
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di...	OMIM:300048
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Metaphyseal...	OMIM:613091
Hennekam Syndrome	Abnormal oral mucosa morphology, Short philtrum, Conductive hearing impairment, Finger syndactyly...	ORPHA:2136
Specific Granule Deficiency 2	Amelogenesis imperfecta, Tooth malposition, Conical tooth	OMIM:617475
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of primary teeth, Umbilical hernia, Dental crowding, Hiatus hernia	OMIM:619769
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Skeletal muscle atrophy, Feeding difficulties in infancy, Respiratory insuf...	ORPHA:238329
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Facial palsy, Kyphoscoliosis, Tapered finger, Micrognathia, Carious teeth, Trismus, F...	OMIM:272430
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Deep philt...	ORPHA:435638
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Micrognathia, Nar...	OMIM:602483
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Sensorineural hearing impairment, Split hand, 2-3 toe syndactyl...	DECIPHER:46
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c...	ORPHA:733
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion	OMIM:616202
Distal Deletion 15Q	Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyl...	ORPHA:1596
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1458
Diabetic Embryopathy	Ventricular septal defect, Micrognathia, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Clef...	ORPHA:1926
Orofaciodigital Syndrome Xi	Cleft palate, Kyphoscoliosis, Gastroesophageal reflux, Postaxial polydactyly	OMIM:612913
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Patent ductus arteriosus, Hypoplastic a...	ORPHA:314588
Holt-Oram Syndrome	Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o...	ORPHA:392
Charge Syndrome	Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Holoprosencephaly, Clinodactyly of...	ORPHA:138
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Coarctation of aorta, Abnormal cardiac septum morphology, Neonatal deat...	OMIM:601612
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Cleft palate, Macrotia, Short di...	OMIM:181180
Temtamy Syndrome	Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia	OMIM:218340
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Stickler Syndrome, Type Ii	Arachnodactyly, Micrognathia, High, narrow palate, Sensorineural hearing impairment, Pierre-Robin...	OMIM:604841
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Proximal placement of thumb, Flexion contracture, Coxa vara, Hypoplastic ilia...	OMIM:613330
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero...	OMIM:235510
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Inguinal hernia, Enamel hypoplasia, Cleft palate	OMIM:272460
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Feeding difficult...	OMIM:224690
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Abnormal pinna morphology, Hamartoma of tongue, Micrognathia, Esophageal diverticulu...	OMIM:617925
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal...	OMIM:268400
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the gallbladder, Atrial septa...	ORPHA:2255
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Micrognathia, Cryp...	OMIM:267000
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hy...	OMIM:169400
Pitt-Hopkins Syndrome	Hiatus hernia, Wide mouth, Thick vermilion border, Short philtrum, Failure of eruption of permane...	ORPHA:2896
Cardiac-Urogenital Syndrome	Patent urachus, Atrial septal defect, Scimitar anomaly, Mesocardia, Accessory spleen, Coronary si...	OMIM:618280
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kyphosis, Hydrocephalus, Kn...	OMIM:603387
Weaver Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Sandal gap, Camptodactyly of finger, Microg...	ORPHA:3447
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth	ORPHA:2728
Flynn-Aird Syndrome	Carious teeth	OMIM:136300
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Limited elbow movement, Coxa vara, Delayed calcaneal ossification, Bifid uv...	OMIM:183900
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Apnea...	ORPHA:314655
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Micrognathia	OMIM:616901
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion	OMIM:615541
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition	OMIM:615802
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S...	OMIM:234100
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Micrognathia, Cleft palate, Orofacial cleft, Coxa vara, Ab...	ORPHA:1988
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Arachnodactyly, Camptoda...	ORPHA:2994
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T...	OMIM:614779
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Charlie M Syndrome	Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,...	ORPHA:1406
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Dental malocclu...	OMIM:612921
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Thrombocytopenia, Death in adolescence, Short lon...	OMIM:619751
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Lumb...	OMIM:601492
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p...	OMIM:259775
20Q13.33 Microdeletion Syndrome	Hallux valgus, Dilation of Virchow-Robin spaces, Tapered finger, Prominent crus of helix, Abnorma...	ORPHA:261311
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m...	ORPHA:1299
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Hypoplasia of the maxilla, Feeding difficulties in infancy, Abnormal for...	ORPHA:192
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Micrognathia, Feeding difficulties in infancy, Cryptorchidism, Asthma, Cleft palate, ...	ORPHA:397590
Schilbach-Rott Syndrome	Posteriorly rotated ears, Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate...	OMIM:164220
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Cleft upper lip, Micrognathia, Absent thumb, Hypoplasia of the radiu...	OMIM:602418
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick vermilion bor...	OMIM:620250
Partial Atrioventricular Septal Defect	Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Long palm, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Abnormality of...	ORPHA:2759
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Atrial septal defect, Limited elbow extension and supination, Ventricul...	ORPHA:401935
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia	OMIM:614381
Monosomy 5P	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Small hand, High palate,...	ORPHA:281
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth	OMIM:259710
Igg4-Related Aortitis	Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphol...	ORPHA:449400
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Upper limb...	OMIM:607323
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Abnormality of the ear, Abnormal form of the vertebral bodie...	ORPHA:2710
Fetal Minoxidil Syndrome	Ventricular septal defect, Micrognathia, Cryptorchidism, Clinodactyly of the 5th finger, Umbilica...	ORPHA:1918
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia...	ORPHA:94066
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ...	ORPHA:596
Coffin-Siris Syndrome 11	Prominent metopic ridge, Cleft soft palate, Uplifted earlobe, Feeding difficulties in infancy, Es...	OMIM:618779
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Abnormality of the endocrine system, Cryptorchidism, Sensorineural heari...	ORPHA:464288
Ear-Patella-Short Stature Syndrome	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clino...	ORPHA:2554
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Clinodac...	OMIM:619981
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial s...	ORPHA:2484
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly,...	OMIM:242700
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Microg...	OMIM:613792
Rothmund-Thomson Syndrome	Aplastic anemia, Selective tooth agenesis, Nasogastric tube feeding in infancy, Vomiting, Neutrop...	ORPHA:2909
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Cryptorchi...	ORPHA:404440
Frank-Ter Haar Syndrome	Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial sept...	OMIM:249420
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Arachnodactyly, Kne...	OMIM:619656
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Hemivertebrae, Coxa vara, Gastroesophageal reflux, Clinodactyly ...	OMIM:614701
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Alg3-Cdg	Abnormality of the endocrine system, Metaphyseal chondrodysplasia, Abnormal limb bone morphology,...	ORPHA:79321
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Kilquist Syndrome	Mandibular prognathia, Wide mouth, Hypoplasia of teeth	OMIM:619080
Schimke Immuno-Osseous Dysplasia	Neutropenia, Microdontia, Lumbar hyperlordosis, Abnormal primary molar morphology, Decreased prop...	ORPHA:1830
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Cleft palate, ...	OMIM:616038
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, L...	OMIM:620210
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Cryptorchidism, Hydroce...	OMIM:175700
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Carious teeth, Limb joint contracture, Hypodontia	OMIM:612079
Down Syndrome	Redundant neck skin, Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defec...	OMIM:190685
Contractural Arachnodactyly, Congenital	Bicuspid aortic valve, Short neck, Micrognathia, Knee flexion contracture, High palate, Atrial se...	OMIM:121050
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia, Recurrent aspi...	OMIM:300484
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Single transverse palmar crease, Hearing impairment,...	OMIM:618950
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth	ORPHA:457365
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl...	OMIM:614524
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Fe...	ORPHA:87
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the mid...	ORPHA:96149
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Apnea, Hearing impairment, Micrognathia, Hypoplastic ...	ORPHA:85201
Acrocephalopolydactyly	Genu recurvatum, Hepatosplenomegaly, Short long bone, Microtia, Protuberant abdomen, Limb undergr...	ORPHA:221054
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Malar flattening, Retrognathia, Abnormal palate morphology	ORPHA:1390
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy,...	OMIM:610536
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomeg...	OMIM:617088
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A...	OMIM:619148
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Hearing impairment, Micrognathia, Flexion contracture, 2-3 toe syndactyly...	OMIM:618186
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Skeletal muscle atrophy, Respiratory distress, Hand muscle weakness, High ...	ORPHA:98915
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Small earlobe, Micrognathia, Elbow dislocation, Hypoplasia of the maxill...	OMIM:613805
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea, Feeding difficu...	ORPHA:2707
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Patent ductus arteriosu...	OMIM:614886
Emanuel Syndrome	Multiple joint contractures, Congenital hip dislocation, Dental crowding, Congenital diaphragmati...	ORPHA:96170
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti...	OMIM:613662
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia	OMIM:614576
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Hypergonadotropic hypogonadism, Small intestinal dysmotility, Hypogonadotr...	ORPHA:298
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventric...	ORPHA:1908
Duplication Of The Pituitary Gland	Encephalocele, Thoracic scoliosis, Supernumerary tooth, Abnormality of masseter muscle, Abnormal ...	ORPHA:314621
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Short neck, Cryptorchidism, Patent ductus arteriosu...	OMIM:612938
Bardet-Biedl Syndrome 16	Respiratory distress, Hypogonadism, Polydactyly, Recurrent otitis media, Hearing impairment	OMIM:615993
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Occipital encephalocele, Ventricular septal defect, Broad hallux,...	OMIM:615948
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax...	OMIM:614976
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Sensorineural he...	ORPHA:2596
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ...	OMIM:617865
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor...	ORPHA:90321
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Coxa va...	ORPHA:3107
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Short neck, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip a...	ORPHA:2001
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-l...	ORPHA:289157
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Unilateral cryptorchidism, Centrally nucleated skeletal m...	OMIM:300219
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala...	ORPHA:2916
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Preaxial hand polydactyly, Thin upper lip vermilion, Interphalangeal joint contracture of finger,...	OMIM:606242
Lead Poisoning	Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, I...	ORPHA:330015
Microphthalmia, Syndromic 2	Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Con...	OMIM:300166
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Hearing impairment, Proximal placement of thumb, Short hall...	ORPHA:90650
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Adducted Thumbs Syndrome	Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory in...	OMIM:201550
You-Hoover-Fong Syndrome	Accessory oral frenulum, Kyphoscoliosis, Cleft palate, Coarctation of aorta, Vascular ring, Clino...	OMIM:616954
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Lipodystrophy, Increas...	ORPHA:199276
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
Sialuria	Thin upper lip vermilion, Splenomegaly, 2-3 toe syndactyly, Macroglossia, High palate, Hypoplasti...	OMIM:269921
Hamamy Syndrome	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa...	OMIM:611174
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f...	OMIM:277170
Temple Syndrome	Decreased testicular size, Posteriorly rotated ears, Maturity-onset diabetes of the young, Microg...	OMIM:616222
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossific...	OMIM:210710
Corneodermatoosseous Syndrome	Carious teeth, Abnormal dental enamel morphology, Gingivitis	ORPHA:3194
Acrocardiofacial Syndrome	Joint dislocation, Atrial septal defect, Death in infancy, Finger syndactyly, Hyperthyroidism, Cl...	ORPHA:2008
Bor Syndrome	Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ...	ORPHA:107
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Con...	OMIM:614188
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Broad hallux, Sa...	OMIM:600987
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath...	OMIM:620369
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Diaphanospondylodysostosis	Respiratory distress, Myelomeningocele, Cleft palate, Narrow pelvis bone, Absent or minimally oss...	ORPHA:66637
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Anterior basal encephalo...	OMIM:136760
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognathia, Flat ca...	OMIM:147891
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polyd...	OMIM:619879
Bardet-Biedl Syndrome 19	Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos...	OMIM:615996
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atria...	OMIM:618870
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr...	ORPHA:235
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Short toe,...	OMIM:269860
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Micromelia, Abdominal distention, Delayed epiphyseal ossification, Splenome...	OMIM:602557
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota...	ORPHA:93259
Hydrolethalus	Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucou...	ORPHA:2189
Xfe Progeroid Syndrome	Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia, Corneal scarring	OMIM:610965
Holoprosencephaly 13, X-Linked	Median cleft lip, Ventricular septal defect, Micrognathia, Alobar holoprosencephaly, Patent ductu...	OMIM:301043
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Micrognathia, Preaxial polydactyly, Cleft palate, Wide m...	OMIM:243605
Bardet-Biedl Syndrome 5	Hypogonadism, Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Encephalocraniocutaneous Lipomatosis	Abnormal cartilage morphology, Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve ...	ORPHA:2396
Lowry-Maclean Syndrome	Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the...	ORPHA:2409
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate...	OMIM:119800
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn...	ORPHA:3253
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Respiratory distress, Rocker bottom foot, Feeding difficulties, Low-set ears, ...	ORPHA:89844
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Cryptorchidism, Polydactyly, Hypogonadism, Brachydactyly	OMIM:615982
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Kallmann Syndrome-Heart Disease Syndrome	Short lingual frenulum, Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery f...	ORPHA:2326
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia	OMIM:617802
Meacham Syndrome	Accessory spleen, Atrial septal defect, Death in infancy, Bicuspid aortic valve, Ventricular sept...	OMIM:608978
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ...	OMIM:601927
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Syndactyly, Ventricular septal defect, Intestinal malrotation, Camptoda...	OMIM:300963
Scarf Syndrome	Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Long philtrum	OMIM:312830
Microphthalmia, Syndromic 12	Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Retrognathia	OMIM:615524
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ...	OMIM:619229
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer...	OMIM:114290
Orofaciodigital Syndrome Type 14	Microretrognathia, Low-set, posteriorly rotated ears, Broad hallux, Deviation of the hallux, Hama...	ORPHA:434179
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario...	ORPHA:1798
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Abnormal pinna morphology, Proxi...	OMIM:217980
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, Single transverse palmar crease, High palate, Shor...	OMIM:612292
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Secundum atrial septal defect, Oral ulcer, Leukopenia, High pala...	OMIM:612541
3M Syndrome	Congenital hip dislocation, Micromelia, Increased vertebral height, Protruding ear, Clinodactyly ...	ORPHA:2616
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Patent ductus arteriosus, Orofacial cleft, Coarctation of aorta, Poly...	ORPHA:17
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact...	ORPHA:380
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter	OMIM:617577
22Q11.2 Deletion Syndrome	Short neck, Micrognathia, Abnormal aortic arch morphology, Short philtrum, Hypoplasia of the thym...	ORPHA:567
Hypoplastic Left Heart Syndrome	Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic...	ORPHA:2248
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor...	ORPHA:99050
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:3163
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
X-Linked Hypophosphatemia	Odontodysplasia, Enthesitis, Cellulitis, Tooth abscess, Abnormal dentin morphology	ORPHA:89936
Lacrimoauriculodentodigital Syndrome 2	Carious teeth, Microdontia, Hypodontia, Conical tooth	OMIM:620192
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:94089
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgr...	ORPHA:444072
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ...	ORPHA:1071
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic vertebral bodie...	OMIM:215140
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Clinodactyly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Subvalvular aorti...	OMIM:280000
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Nemaline Myopathy 9	Ventricular septal defect, Micrognathia, Cleft palate, High palate, Scoliosis	OMIM:615731
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair...	OMIM:248390
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Intestinal pseudo-obstruction, Kyphosis, Diarrhea, Split hand, Flexion...	OMIM:309900
Johnson Neuroectodermal Syndrome	Carious teeth, Preaxial hand polydactyly, Cleft palate, Protruding ear, Microtia, Everted lower l...	ORPHA:2316
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Micrognathia, Kyphosis, Irregular femoral epiphysis, Submucous cleft...	OMIM:108300
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Finger syndactyly, Branchial cyst, Thin upper lip vermilion, Dental crowdi...	ORPHA:435938
Li-Campeau Syndrome	Ventricular septal defect, Single transverse palmar crease, Hypothyroidism, Patent ductus arterio...	OMIM:619189
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Apnea, Single transverse palmar crease, Micrognathia, High palate, Re...	OMIM:617527
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Abnormality of the ear, Cleft palate, Palmoplantar ...	OMIM:225060
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Dysostosis Multiplex, Ain-Naz Type	Glenoid fossa hypoplasia, Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular r...	OMIM:619345
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Tapered fi...	OMIM:619721
Emanuel Syndrome	Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ...	OMIM:609029
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Micrognathia, Abdominal distention, Postaxial hand polydactyly, Cryptor...	ORPHA:1655
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi...	ORPHA:246
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Abdominal...	ORPHA:86812
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cle...	ORPHA:3434
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma...	ORPHA:364028
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Osteoarthritis, Brachydactyly	ORPHA:2762
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Micrognathia, Feeding difficulties ...	ORPHA:818
Bardet-Biedl Syndrome 11	Hypogonadism, Polydactyly	OMIM:615988
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Immunodeficiency 49	Umbilical hernia, Short philtrum, Natal tooth, Micrognathia	OMIM:617237
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Lateral Meningocele Syndrome	Dental crowding, Micrognathia, High, narrow palate, Abnormal form of the vertebral bodies, High p...	ORPHA:2789
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Hypoplastic vertebral bodies, Irregular vertebral endplates...	OMIM:224300
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Limb-girdle muscle weakness, High palate, Gastroesophageal reflux, Mu...	ORPHA:98914
Congenital Myasthenic Syndrome	Congenital hip dislocation, Limb-girdle muscle weakness, High palate, Gastroesophageal reflux, Mu...	ORPHA:590
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W...	ORPHA:582
Microphthalmia, Syndromic 1	Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Orofacial...	OMIM:309800
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Micrognathia, Wide anterior fontanel, Kyphosis, Protuberant abdomen, Umbilical hernia	OMIM:618272
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Prominent fingertip pads, Ventricular septal defect, Overlapping toe, H...	OMIM:618494
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hype...	ORPHA:169186
Hallermann-Streiff Syndrome	Natal tooth, Tracheomalacia, Micrognathia, Abnormality of the dentition, High, narrow palate, Sup...	ORPHA:2108
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Death in infancy, Sandal gap, Single transverse palmar crease, Adrenal hypoplas...	OMIM:613177
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Anaplastic Thyroid Carcinoma	Respiratory distress, Cough, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Upper ...	ORPHA:142
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Hypopituitarism, Dilation of Virchow-Robin spaces, Cleft upper lip, Cr...	OMIM:603671
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion,...	ORPHA:329178
Spondyloepimetaphyseal Dysplasia, Shohat Type	Laryngeal stenosis, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Ab...	ORPHA:93352
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger	ORPHA:1883
Bone Marrow Failure Syndrome 3	Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia, Microdontia, Enamel hy...	OMIM:617052
Bangstad Syndrome	Abnormality of the dentition, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ...	ORPHA:1227
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High pala...	OMIM:300373
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Aplasia/Hy...	ORPHA:264450
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Low-set, posteriorly rotated ears, Abnormal dental ...	ORPHA:568
Cri-Du-Chat Syndrome	Single transverse palmar crease, Feeding difficulties in infancy, Short metatarsal, Orofacial cle...	OMIM:123450
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Pyloric stenosis, Cryptor...	ORPHA:96184
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Micrognathia, Precocious puberty, Long fingers, High, narrow palate, C...	ORPHA:96092
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Enamel hypoplasia	OMIM:243150
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth	OMIM:126550
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Hypoplasia of teeth, Downturned co...	ORPHA:391408
3C Syndrome	Adrenal hypoplasia, Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Orofacial cleft...	ORPHA:7
Osteogenesis Imperfecta, Type X	Malar flattening, Dentinogenesis imperfecta, Micrognathia	OMIM:613848
Cree Mental Retardation Syndrome	Posteriorly rotated ears, Cleft soft palate, Rocker bottom foot, Micrognathia, Cutaneous finger s...	OMIM:606851
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ...	OMIM:265000
Recombinant 8 Syndrome	Micrognathia, Downturned corners of mouth, Abnormality of the neck, Clinodactyly of the 5th finge...	ORPHA:96167
De Barsy Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Ventricular septal defect, Delayed closure...	ORPHA:2962
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Enlarged joints, Tapered finger, Triangular mouth, Flattened epiphysis, Gen...	OMIM:607131
Radio-Renal Syndrome	Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r...	ORPHA:3015
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Tented upper lip vermilion, Overlapping toe, Flexion contracture, Feeding d...	OMIM:619383
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Hemivertebrae, Short palm, Thoracic he...	OMIM:268310
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Smooth philtrum, Respiratory distress, Posteriorly rotated ears, Abnormality of thyroid physiolog...	OMIM:300968
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Maternal diabetes, Micrognathia, Carious teeth, Hypoplastic pubic ...	ORPHA:93346
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Gast...	OMIM:117650
Grange Syndrome	Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm	ORPHA:79094
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi...	OMIM:605809
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormal m...	ORPHA:1307
Lethal Acantholytic Erosive Disorder	Natal tooth, Abnormal pinna morphology, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palat...	ORPHA:158687
Monosomy 18Q	Mandibular prognathia, Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Bilateral ...	ORPHA:1600
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Single transverse palmar crease, Micrognathia, Congenital sensorineura...	ORPHA:73272
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Thickened nuchal skin fold, Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Clinod...	OMIM:618164
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum	OMIM:145420
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Eclabion	OMIM:616395
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Single transverse palmar ...	ORPHA:96334
Vater/Vacterl Association	Occipital encephalocele, Laryngeal stenosis, Syndactyly, Ventricular septal defect, Spina bifida,...	OMIM:192350
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Single transverse palmar crease, H...	OMIM:610253
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Lipodystrophy, Cellulitis, Advanced er...	ORPHA:2348
Kbg Syndrome	Thin upper lip vermilion, Persistent open anterior fontanelle, Vertebral fusion, Macrodontia, Sin...	ORPHA:2332
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Feeding difficulties in i...	ORPHA:254875
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Hadziselimovic Syndrome	Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Thick lower lip vermili...	OMIM:612946
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Respiratory distress, Respiratory f...	OMIM:211530
Lambotte Syndrome	Retrognathia, Atresia of the external auditory canal, Narrow mouth, Preaxial foot polydactyly, Ma...	OMIM:245552
Achondroplasia	Respiratory distress, Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Conductiv...	OMIM:100800
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Hearing impairment, T...	OMIM:619451
3Mc Syndrome 3	Abnormal pinna morphology, Cleft upper lip, Preaxial polydactyly, Cleft palate, Radioulnar synost...	OMIM:248340
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple j...	ORPHA:536467
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
Osteogenesis Imperfecta, Type Viii	Inguinal hernia, Dentinogenesis imperfecta	OMIM:610915
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Atypical scarr...	OMIM:601701
Myopathy, Centronuclear, 5	Hip contracture, Micrognathia, Centrally nucleated skeletal muscle fibers, Respiratory insufficie...	OMIM:615959
Phenobarbital Embryopathy	Mandibular prognathia, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal mitral valve...	ORPHA:1919
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Hypoplastic nipples,...	OMIM:603543
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis, Palmoplantar cutis gyrata, Cryptorchidism, Hearing abnorm...	ORPHA:1555
Sotos Syndrome	Mandibular prognathia, Posteriorly rotated ears, High, narrow palate, Cryptorchidism, Long metaca...	OMIM:117550
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Supernumerary nipple, Micrognathia, Submucous cleft hard palate, Unilateral cle...	OMIM:619122
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Tapered finger, Sensorineural hearing impairment, Flexion contracture, Feed...	ORPHA:544503
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Posteriorly rotated ears, Decreased response to growth hormone stimula...	OMIM:615866
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Intestinal malrotation, Ventricular septal defect, Arachnodactyly, Carious teeth...	OMIM:617602
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Deep...	ORPHA:293725
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h...	ORPHA:177907
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hydrocephalus, Preaxial polydactyly, Hypogonadism, Delayed puberty	ORPHA:141333
Mucopolysaccharidosis, Type Vii	Flexion contracture, Narrow greater sciatic notch, Widely spaced teeth, Anterior beaking of lumba...	OMIM:253220
X-Linked Intellectual Disability, Nascimento Type	Deep philtrum, Downturned corners of mouth, Neutropenia, Patent foramen ovale, Lower extremity jo...	ORPHA:163956
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Micrognathia, Feeding difficulties, Thin vermilion border, Short philtrum, ...	ORPHA:261304
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Micrognathia, Feeding difficulties in i...	ORPHA:570
Mogs-Cdg	Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Hypoventilation, A...	ORPHA:79330
Tetrasomy 5P	Respiratory distress, Overlapping toe, Posteriorly rotated ears, Short hallux, Micrognathia, Long...	ORPHA:3309
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmon...	ORPHA:1692
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Foot olig...	ORPHA:3258
Celiac Disease, Susceptibility To, 1	Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis	OMIM:212750
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-sha...	OMIM:151210
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognat...	ORPHA:50945
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker b...	OMIM:271225
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Oral leukoplakia	OMIM:616353
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Cleft palate, Webbed neck, Hydranencephaly, Truncus arteriosus, Short ...	OMIM:601355
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Thoracic scoliosis, Congenital hip dislocation, Sing...	ORPHA:508488
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Tented upper lip vermilion, Di...	OMIM:618622
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Scoliosis, Hypertrop...	OMIM:616276
Microphthalmia, Syndromic 9	Atrial septal defect, Ventricular septal defect, Micrognathia, Cryptorchidism, Patent ductus arte...	OMIM:601186
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
Seckel Syndrome	Tooth agenesis, Abnormal dental enamel morphology, Micrognathia	ORPHA:808
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact...	OMIM:174300
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Ventricular septal defect, Rhizomelia, Proximal placement of thumb, Mic...	ORPHA:93267
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia, Micrognathia, Conductive hearing impairment, Aglossia, Clef...	OMIM:202650
Joubert Syndrome 10	Postaxial polydactyly, Feeding difficulties in infancy, Deep philtrum, Thick vermilion border, Lo...	OMIM:300804
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Hearing impairment, Abnormality of the dentit...	OMIM:182290
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Postaxial polydactyly, Hypoplasia of the maxilla, Conical tooth, Diastem...	OMIM:619142
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Overlapping toe, Posteriorly rotated ears, Craniosynostosis, F...	OMIM:123790
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal tongue physiology, Feeding difficulties in infancy, Anteverted ea...	ORPHA:544254
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of the anterior fontanelle, ...	OMIM:607812
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum...	OMIM:614091
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Micromelia, Feeding difficulties in infancy, Metaphyseal widening, F...	ORPHA:3206
Isolated Dandy-Walker Malformation	Encephalocele, Tetralogy of Fallot, Cleft palate	ORPHA:217
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, ...	OMIM:619194
Eng-Strom Syndrome	Ventricular septal defect, Camptodactyly of finger, Arthritis, Abnormal cardiac septum morphology...	ORPHA:1937
Kabuki Syndrome 2	Natal tooth, Hearing impairment, Micrognathia, Feeding difficulties in infancy, Lower lip pit, Cu...	OMIM:300867
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Nasogastric tube feed...	ORPHA:268261
Trisomy 1Q	Microretrognathia, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Arachnodac...	ORPHA:261344
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Proximal placement of thumb, Short neck, Micrognathia, Cryptorchidism, Pulm...	ORPHA:251071
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology	ORPHA:1334
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma...	OMIM:305100
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Overfolded helix, Large fleshy ears, Widely spaced teeth, Thoracic ky...	OMIM:619092
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ...	ORPHA:521445
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ...	ORPHA:103907
Mucolipidosis Ii Alpha/Beta	Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hypertropy, Th...	OMIM:252500
Microcephalic Primordial Dwarfism, Montreal Type	Open bite, Carious teeth, Abnormal palate morphology, Micrognathia	ORPHA:2617
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Feeding difficulties, Limb hyper...	ORPHA:99742
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Cleft palate, Gingivitis, Cellulitis	ORPHA:2314
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Short neck, Micrognathia, Glossoptosis, High ...	OMIM:616145
Loeys-Dietz Syndrome 5	Scapular winging, Decreased muscle mass, Arachnodactyly, Cleft soft palate, Eosinophilic infiltra...	OMIM:615582
Lambert Syndrome	Wide mouth, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Fanconi Anemia, Complementation Group B	Death in infancy, Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Sho...	OMIM:300514
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil...	OMIM:305400
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Dental crowding, Sandal gap, Short toe, Pierre-Robin sequence, Anterior...	OMIM:617877
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Lumbar...	OMIM:253200
C Syndrome	Short metacarpal, Toe syndactyly, Ventricular septal defect, Accessory oral frenulum, Micrognathi...	OMIM:211750
Czeizel-Losonci Syndrome	Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit...	ORPHA:2437
Bardet-Biedl Syndrome 10	Hypogonadism, Polydactyly	OMIM:615987
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia	OMIM:613680
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Cleft palat...	ORPHA:2345
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Dental crowding, Posteriorly rotated ears, Micrognathia,...	OMIM:130720
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Median cleft lip, Toe syndactyly, Micromelia, Microgna...	OMIM:241800
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Deep pa...	OMIM:311900
Fgfr2-Related Bent Bone Dysplasia	Overfolding of the superior helices, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischi...	ORPHA:313855
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Microtia,...	OMIM:239800
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Scoliosis, Narro...	ORPHA:398156
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Submucous cleft hard palate, Epiphy...	OMIM:222765
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p...	OMIM:617061
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, He...	ORPHA:79500
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive...	ORPHA:794
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Posteriorly rotated ears, Single transverse ...	OMIM:247200
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microdontia, Enamel hypoplasia, Retrognathia	OMIM:210720
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t...	OMIM:149730
Johanson-Blizzard Syndrome	Microdontia, Oligodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2315
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Abnormal pinna morphology, Postaxial polyda...	OMIM:614175
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Downturned corners of mouth...	OMIM:618974
Apc-Related Attenuated Familial Adenomatous Polyposis	Odontoma, Supernumerary tooth, Lipoma	ORPHA:247806
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v...	ORPHA:73223
Donohue Syndrome	Skeletal muscle atrophy, Precocious puberty, Abdominal distention, Thick lower lip vermilion, Hyp...	OMIM:246200
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Cleft palate, Abnormal...	ORPHA:2145
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac...	OMIM:217085
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr...	OMIM:608227
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Short femur, Denta...	OMIM:300990
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Dental crowding, Decreased response to growth hormone stimulation test, Po...	ORPHA:96182
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Death in infancy, Thymus hyperplasia, Neonatal respiratory distress, Arachnodactyly, Micrognathia...	OMIM:619036
German Syndrome	Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Orofacial cleft, Abnormal card...	ORPHA:2077
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bifid uvula, Cleft palate	OMIM:258320
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Short neck, Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Patent foramen...	OMIM:617506
Camurati-Engelmann Disease	Skeletal muscle atrophy, Anorexia, Feeding difficulties in infancy, Abnormal tibia morphology, Cr...	ORPHA:1328
Diamond-Blackfan Anemia 10	Respiratory distress, Macrocytic anemia, Posteriorly rotated ears, Congenital diaphragmatic herni...	OMIM:613309
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Thin vermilion bor...	ORPHA:2323
Charge Syndrome	Decreased response to growth hormone stimulation test, Abnormal palmar dermatoglyphics, Micrognat...	OMIM:214800
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia	ORPHA:466722
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand p...	ORPHA:2920
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Omphalocele	OMIM:600373
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Low-set, posteriorly rotated ears, Abnormali...	ORPHA:1786
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Rectal prolapse, Hypoplastic facial bones, Feeding diffi...	OMIM:619793
Short Syndrome	Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Lipoatrophy, Micrognathia, Absence of ...	OMIM:269880
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Prec...	ORPHA:2588
Buratti-Harel Syndrome	Broad hallux, Posteriorly rotated ears, Cryptorchidism, Velopharyngeal insufficiency, Submucous c...	OMIM:619314
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Aplastic anemia, Patellar hypoplasia, High palate, Vomiting, Neutropenia, Micr...	ORPHA:221016
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth	ORPHA:1231
Chromosome 9P Deletion Syndrome	Short neck, Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, ...	OMIM:158170
Desbuquois Syndrome	Genu recurvatum, Ventricular septal defect, Camptodactyly of finger, Short neck, Elbow dislocatio...	ORPHA:1425
Adnp Syndrome	Respiratory distress, Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger...	ORPHA:404448
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Genu recurvatum, Open bite, Splenomegaly, Abnormality ...	ORPHA:2969
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Flexion contracture, Tibial bowing, Irregular ve...	OMIM:143095
Burn-Mckeown Syndrome	Mandibular prognathia, Hearing impairment, Micrognathia, Feeding difficulties in infancy, Cleft u...	OMIM:608572
Nager Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t...	ORPHA:245
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Congenital diaphragmati...	OMIM:122470
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Atrial septal defect, Clinodactyly of...	OMIM:274000
Kleefstra Syndrome	Mandibular prognathia, Tented upper lip vermilion, Downturned corners of mouth, Gastroesophageal ...	ORPHA:261494
Choanal Atresia	Subglottic stenosis, Respiratory distress, Craniosynostosis, Upper airway obstruction, Feeding di...	ORPHA:137914
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Arboleda-Tham Syndrome	Mandibular prognathia, Respiratory distress, Bilateral cryptorchidism, Anteverted ears, Downturne...	OMIM:616268
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon...	ORPHA:1812
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Flexion contracture, Gastroesophageal reflux, Dislocated radial ...	OMIM:605039
Sweeney-Cox Syndrome	Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Asplenia, High palate, Gastroesophageal...	OMIM:617746
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Hearing im...	ORPHA:783
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ...	OMIM:619445
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Feeding difficulties i...	ORPHA:534
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio...	OMIM:620370
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Premature thelarche, Micrognathia, Hypoplasia o...	OMIM:180849
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Short lingual frenul...	OMIM:619479
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Short neck, Micrognathia, Anteriorly placed anus, Downturned corners of ...	OMIM:616894
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal atrial arrangement, Intestinal malrotation, Situs inversus total...	ORPHA:244
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, No...	ORPHA:1335
Familial Aortic Dissection	Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ...	ORPHA:229
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth	OMIM:612714
Tonne-Kalscheuer Syndrome	Decreased testicular size, Congenital diaphragmatic hernia, Micrognathia, Narrow mouth, Velophary...	OMIM:300978
Pseudohypoparathyroidism Type 1C	Calcinosis, Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Abdominal sympto...	ORPHA:79444
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Micrognat...	OMIM:108721
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Arachnodactyly, Cryptorchidism, Aortic root aneurysm, Short philtrum, ...	OMIM:301039
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest...	ORPHA:453504
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest...	ORPHA:352665
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,...	ORPHA:439822
Holt-Oram Syndrome	Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm...	OMIM:142900
Heterotaxy, Visceral, 5, Autosomal	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Intestinal malrotation, ...	OMIM:270100
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Cleft lip,...	OMIM:301022
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin vermilion border, Abnormal palate m...	ORPHA:2701
Hypoglossia-Hypodactyly Syndrome	Death in infancy, Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the to...	ORPHA:989
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears...	ORPHA:313781
Hurler Syndrome	Metaphyseal widening, Flexion contracture, Microdontia, Hypoplasia of the femoral head, Gingival ...	OMIM:607014
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Nasogastric tube...	ORPHA:221120
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Elevated circulating thy...	OMIM:601812
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal distentio...	ORPHA:100924
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,...	ORPHA:77301
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposit...	OMIM:619910
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Crackles, Abdominal distention, Mediastinal lymphadenopathy, Chronic di...	OMIM:620233
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial ...	ORPHA:261330
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Abnormal form of the...	ORPHA:2839
Aortic Aneurysm, Familial Thoracic 9	Thoracic aortic aneurysm, Arachnodactyly, Mitral valve prolapse, Ascending aortic dissection, Hig...	OMIM:616166
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Enamel hypoplasia	ORPHA:79396
Chromosome 5Q12 Deletion Syndrome	Long toe, Ventricular septal defect, Short neck, Micrognathia, Long fingers, Patent ductus arteri...	OMIM:615668
Schinzel-Giedion Syndrome	Respiratory distress, Micrognathia, Abnormality of the gingiva, Tibial bowing, Anteriorly placed ...	ORPHA:798
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa...	OMIM:619472
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact...	OMIM:270400
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Patellar hypoplasia, Vomiting, Neutropenia, Microdontia, Short phalanx of finger...	ORPHA:221008
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Gastroesoph...	OMIM:616580
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft ...	OMIM:612863
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Feeding difficulties in infanc...	OMIM:611209
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Micrognathia, Absent thumb, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:617516
Tarp Syndrome	Extramedullary hematopoiesis, Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis,...	ORPHA:2886
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Abnormality of the dentition, Thick lower lip vermilion, Umbilical ...	ORPHA:261652
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Ventricular septal defect, Hypogonadotropic hypogonadism, Tapered finger, Cryptorc...	OMIM:617159
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit...	ORPHA:289
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger, Clinodact...	OMIM:101400
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:2091
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Death in infancy, Hypoventilation, Elbow contracture, Abdominal distention, Sensorineural hearing...	OMIM:620275
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota...	ORPHA:93260
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Lelis Syndrome	Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Spondylocostal Dysostosis 1, Autosomal Recessive	Vertebral fusion, Death in infancy, Block vertebrae, Kyphoscoliosis, Abdominal distention, Hemive...	OMIM:277300
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Thora...	ORPHA:508498
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Low posterior hairline, Lim...	OMIM:214300
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan...	ORPHA:353277
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ...	ORPHA:659
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive hearing impai...	ORPHA:2010
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Gastroesophageal reflux, Otitis media, Conductive hearing impairment, Broad hall...	ORPHA:353281
Larsen Syndrome	Finger syndactyly, Large joint dislocations, Craniosynostosis, Cryptorchidism, Accessory carpal b...	ORPHA:503
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val...	ORPHA:3405
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Bifid sternum, Coarctation of aorta	OMIM:140850
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Accessory oral frenulum, Short neck, Micromelia, Hydrocephalus, Aplastic cla...	OMIM:616546
Methimazole Embryofetopathy	Ventricular septal defect, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophagea...	ORPHA:1923
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy, Feeding difficulties	OMIM:616341
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Single transverse pal...	ORPHA:329224
Costello Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro...	ORPHA:3071
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Thickened helices, Hypoplasia of the maxilla, Short metat...	OMIM:608328
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn...	ORPHA:1427
Syndromic Diarrhea	Lymphopenia, Villous atrophy, Gastritis, Bicuspid aortic valve, Ventricular septal defect, Increa...	ORPHA:84064
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Absent nipple, Submucous cleft soft palate, Cleft hard palate, Cleft ...	ORPHA:69085
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Hyperlordosis, Symphalangism affecting t...	ORPHA:710
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft palate, Wide m...	ORPHA:85199
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Hyperextensibility of the finger joints, Macroorchidism, Dental crowdin...	OMIM:309520
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Ante...	OMIM:305450
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thickened nuchal skin fold, Thin upper lip vermilion, Ventricular septal defect, Patent ductus ar...	OMIM:220500
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Kagami-Ogata Syndrome	Ventricular septal defect, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Splenomegaly,...	OMIM:608149
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Sensorineural hearing impairment, Feeding difficulties, G...	OMIM:616974
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cleft upper lip, Comp...	OMIM:264480
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, Hyperlordosis, High, narrow palate, Diarrhea, Thick l...	OMIM:162300
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Oligodontia, Atria...	OMIM:618330
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cleft upper lip, Cryptorchidism, Absent pulmonary artery, Patent ductu...	OMIM:600460
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Short neck, Cleft upp...	OMIM:244300
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate...	ORPHA:3320
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy	OMIM:254120
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi...	ORPHA:2476
Cranioectodermal Dysplasia 3	Everted lower lip vermilion, Widely spaced teeth, Hypoplasia of teeth, Micrognathia	OMIM:614099
Adiposis Dolorosa	Abdominal distention, Constipation	OMIM:103200
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, Protruding ear, High palate, Widely spaced ...	OMIM:218330
8P23.1 Duplication Syndrome	Toe syndactyly, Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmoni...	ORPHA:251076
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,...	ORPHA:740
Isolated Childhood Apraxia Of Speech	High, narrow palate, Overfolded helix, Submucous cleft hard palate	ORPHA:209908
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate	OMIM:266270
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Branchiootorenal Syndrome 1	Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont...	OMIM:113650
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ...	OMIM:601808
Schimke Immunoosseous Dysplasia	Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Bilateral cryptorchidism, Thrombocyto...	OMIM:242900
Acrofacial Dysostosis 1, Nager Type	Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Foot oli...	OMIM:154400
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Bicuspid aortic valve, Single transverse palmar crease, Limited elbow movement, Short neck, Micro...	OMIM:610759
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Subglottic stenosis, Delayed epiphyseal ossifica...	ORPHA:93357
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Fused teeth, High palate, Gastroe...	ORPHA:93932
Giant Cell Arteritis	Pericarditis, Diabetes insipidus, Mediastinal lymphadenopathy, Vasculitis, Arthritis, Aortic diss...	ORPHA:397
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent du...	OMIM:618652
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Chronic otitis media, Clinodactyly of the 5th finger...	ORPHA:2750
Gaucher Disease Type 2	Respiratory distress, Splenomegaly, Flexion contracture, Dysphagia, Cough, Abnormal pattern of re...	ORPHA:77260
Silver-Russell Syndrome 3	Syndactyly, Unilateral cryptorchidism, Elbow contracture, Small hand, Antecubital pterygium, Feed...	OMIM:616489
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn...	ORPHA:3168
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Dental crowdin...	OMIM:248370
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ...	OMIM:192445
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology	ORPHA:251004
Thyroid Hypoplasia	Abdominal distention, Macroglossia, Constipation, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the dentition, Elbow flexion...	OMIM:151050
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy, Kyphoscoliosis	OMIM:619099
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Abnormal form of the vertebral bo...	ORPHA:2067
Congenital Rubella Syndrome	Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Type I diabe...	ORPHA:290
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Feeding difficulties in infancy, Sh...	ORPHA:193
Wolman Disease	Nausea and vomiting, Adrenal calcification, Bone-marrow foam cells, Abdominal distention, Splenom...	ORPHA:75233
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Narrow mouth, Thrombocyto...	OMIM:608013
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Periodontiti...	ORPHA:1775
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Skeletal muscle atrophy, Limb joint contracture, Tapered finger, Splen...	OMIM:301072
Neu-Laxova Syndrome	Skeletal muscle atrophy, Micromelia, Micrognathia, Flexion contracture, Pterygium, Bifid uvula, S...	ORPHA:2671
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t...	ORPHA:811
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Cleft lip, Patent ductus arterios...	OMIM:619343
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux, Aganglionic megacolon	OMIM:235750
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Abnormality of the verteb...	ORPHA:239
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi...	OMIM:263750
Distal Duplication 18Q	Carious teeth, Abnormal dental morphology, High palate, Micrognathia	ORPHA:1716
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	OMIM:300998
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Hyperextensibility of the finger joints, Toe syndactyly, Ventricular se...	ORPHA:505237
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Patent ductus arteriosus, Redundant neck skin, Brachydactyly	OMIM:610498
Pediatric Systemic Lupus Erythematosus	Myositis, Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Lymphadenopathy, A...	ORPHA:93552
Frontometaphyseal Dysplasia	Subglottic stenosis, Single transverse palmar crease, Limited elbow movement, Micrognathia, Metap...	ORPHA:1826
Loeys-Dietz Syndrome 4	Torticollis, Bicuspid aortic valve, Protrusio acetabuli, Eosinophilic infiltration of the esophag...	OMIM:614816
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Gastrointestinal dysmotility, Downt...	ORPHA:531151
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ...	ORPHA:293967
Fetal Trimethadione Syndrome	Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Scolio...	ORPHA:1913
Dubowitz Syndrome	Aplastic anemia, Single transverse palmar crease, Micrognathia, Feeding difficulties in infancy, ...	OMIM:223370
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Splenomegaly, Esophageal varix, Foot oligodactyly, Truncus...	OMIM:616589
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C...	ORPHA:457193
Kinsship Syndrome	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Downturned corners of mouth...	OMIM:619297
Transaldolase Deficiency	Pancytopenia, Ventricular septal defect, Short neck, Thrombocytopenia, Deep philtrum, Patent duct...	OMIM:606003
Atelis Syndrome 1	Carious teeth, High palate, Long philtrum	OMIM:620184
2Q31.1 Microdeletion Syndrome	Short neck, Micrognathia, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, ...	ORPHA:251014
Folinic Acid-Responsive Seizures	Respiratory distress, Abdominal distention, Sensorineural hearing impairment, Apnea	ORPHA:79097
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dyspnea, Abdominal distention	OMIM:174050
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth	ORPHA:314647
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Abdominal aortic aneurysm, Arachno...	ORPHA:284984
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Ovarian fibroma, Abdominal pain, Abdominal distention, Pleura...	ORPHA:314473
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul...	OMIM:617201
Oromandibular Dystonia	Respiratory distress, Torticollis, Abnormality of the temporomandibular joint, Abnormal mandible ...	ORPHA:93958
Primary Effusion Lymphoma	Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:48686
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Thyroid hypoplasia, Posteriorly rotated ears, Camptodactyly of finger, Microg...	ORPHA:3047
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization	OMIM:307800
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Torticollis, Ventricular septal defect, Broad hal...	ORPHA:276432
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Trisomy 17P	Prominent metopic ridge, Short neck, Micrognathia, Tapered finger, Patent ductus arteriosus, Hydr...	ORPHA:261290
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Thoracolumbar scoliosis, Overlapping toe, Micrognathia, Metatarsus adductus, High...	ORPHA:436003
Feingold Syndrome Type 2	Toe syndactyly, Ventricular septal defect, Jejunal atresia, Short thumb, Short middle phalanx of ...	ORPHA:391646
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decr...	ORPHA:1855
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Feeding difficulties, Myopathy, High palate, Increased va...	OMIM:604377
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Abnormality of the hand, Cryptorchidism, Downturned corners of...	ORPHA:369891
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneou...	OMIM:236500
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Total anomalous pulmo...	ORPHA:261183
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif...	ORPHA:1201
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ...	OMIM:601357
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Kyphoscoliosis	OMIM:617977
Diamond-Blackfan Anemia 1	Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Tripha...	OMIM:105650
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Ventricular septal defect, Overlapping toe, Down-sloping shoulders, Sho...	OMIM:617452
Congenital Pancreatic Cyst	Abdominal distention, Vomiting, Anorexia, Abdominal pain	ORPHA:313906
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia...	OMIM:617895
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, H...	ORPHA:453499
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Posteriorly rotated ears, Micromelia, Microgna...	OMIM:224410
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric...	ORPHA:210122
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ...	OMIM:253000
Pseudohypoparathyroidism Type 1A	Abdominal symptom, Decreased response to growth hormone stimulation test, Reduced circulating pro...	ORPHA:79443
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abd...	ORPHA:91387
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Microphthalmia With Limb Anomalies	Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camp...	OMIM:206920
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Narrow pala...	ORPHA:96169
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect, Broad hallux, Micrognathia, Precocious puberty, Cryptorchidism, Short ...	OMIM:620073
Keutel Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Calcification of cartilage, Tracheal atresi...	ORPHA:85202
Mosaic Trisomy 9	Micromelia, Short neck, Micrognathia, Asplenia, Hemivertebrae, Finger clinodactyly, High palate, ...	ORPHA:99776
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Postaxial polydactyly, Preaxial polyd...	OMIM:615503
Mckusick-Kaufman Syndrome	Finger syndactyly, Aganglionic megacolon, Ventricular septal defect, Tarsal synostosis, Cryptorch...	ORPHA:2473
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Radial head subluxation...	OMIM:614078
Tetraploidy	Micrognathia, Radial club hand, Cleft palate, Short philtrum, Hypoplasia of the ear cartilage, Ap...	ORPHA:3305
Trisomy 13	Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, P...	ORPHA:3378
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Esophageal Atresia	Subglottic stenosis, Respiratory distress, Maternal diabetes, Feeding difficulties in infancy, Ga...	ORPHA:1199
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromatosis, Hyperlordo...	ORPHA:653
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Feingold Syndrome 2	Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl...	OMIM:614326
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Po...	OMIM:607361
Prune Belly Syndrome	Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Pa...	ORPHA:2970
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductu...	ORPHA:500159
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Short clavi...	ORPHA:60015
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ...	OMIM:216400
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Microgna...	OMIM:605275
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Mucopolysaccharidosis Type 3	Adenoiditis, Flexion contracture, Abnormal form of the vertebral bodies, Otitis media, Aspiration...	ORPHA:581
Tularemia	Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Medias...	ORPHA:3392
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:616622
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radi...	OMIM:300337
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p...	OMIM:615777
Trichothiodystrophy	Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar...	ORPHA:33364
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Clinodactyly...	OMIM:620113
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Gastroeso...	OMIM:619950
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Roifman Syndrome	Thin upper lip vermilion, Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defec...	OMIM:616651
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Clinodactyl...	OMIM:620183
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Post...	ORPHA:75389
Diamond-Blackfan Anemia 7	Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal d...	OMIM:612562
Rabson-Mendenhall Syndrome	Mandibular prognathia, Increased pineal volume, Enlarged ovaries, Dental crowding, Abnormality of...	ORPHA:769
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl...	OMIM:603457
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Flattened epiphysis, Ovoid vertebral bodies, Short neck, Micrognathia, Coxa valga, Abnormality of...	ORPHA:163649
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Atrial septal defect, Hypoplastic cervical vertebra...	ORPHA:79345
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Atrial septal defect, Spina bifida occulta...	OMIM:150250
Joubert Syndrome 37	Prominent metopic ridge, Lumbar hyperlordosis, Posteriorly rotated ears, Postaxial polydactyly, C...	OMIM:619185
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Large earlobe, Polydactyly, Leukemia, Smooth philtrum	OMIM:602501
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon...	OMIM:615873
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High...	OMIM:135500
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Hypopl...	OMIM:187600
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Arterial Tortuosity Syndrome	Respiratory distress, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachno...	ORPHA:3342
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Dental crowding, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ...	OMIM:617168
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention...	ORPHA:92050
Stickler Syndrome	Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Feeding diff...	ORPHA:828
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Ventricular septal defect, Aganglionic megacolon, Micrognathia, Malabsorption, ...	ORPHA:452
Intellectual Developmental Disorder, Autosomal Dominant 58	Facial hypotonia, Single transverse palmar crease, Dental crowding, Protruding tongue, Posteriorl...	OMIM:618106
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Decreased response to growth hormone stimulation test, Craniosynostosi...	OMIM:614114
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Short neck, Cryptorchidism, Clinodactyly, Wide mouth, Macroglossia, Everted lower lip vermilion, ...	OMIM:616789
Fraser Syndrome 2	Intestinal malrotation, Abdominal distention, Rectal atresia, Cutaneous syndactyly, Respiratory f...	OMIM:617666
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Pulmonary embolism, F...	ORPHA:3260
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal ga...	OMIM:607143
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Diabetes mellitus, Ventricular septal defect, Sandal gap, Micrognathia,...	OMIM:270450
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Feeding difficulties, Bifid uvula, Absent thumb	OMIM:619239
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Intestinal pseudo-obstruction, Arachnodactyly, Cryptorchidism,...	ORPHA:73246
Opsismodysplasia	Short metacarpal, Rhizomelia, Posteriorly rotated ears, Squared iliac bones, Hypoplastic pubic bo...	OMIM:258480
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Finger joint hypermob...	ORPHA:363705
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Abdominal distention, Thyroid agenesis, Elevated circulating thy...	OMIM:218700
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Hyperlordosis, Narrow palate, Vertebral...	ORPHA:1323
Silver-Russell Syndrome 1	Syndactyly, Decreased response to growth hormone stimulation test, Micrognathia, Short distal pha...	OMIM:180860
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Short neck, Patent ductus arteriosus, Cleft palate, High palate, Scoli...	ORPHA:52055
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Ovarian fibroma, Dow...	OMIM:109400
Gaucher Disease, Type Ii	Death in infancy, Apnea, Cough, Trismus, Thrombocytopenia, Splenomegaly, Feeding difficulties, St...	OMIM:230900
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Hydrocephalus, Hypoplastic aortic a...	ORPHA:457284
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent...	ORPHA:284169
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Micrognathia, Abnormal finger morphology, Abnormal form of the vertebral bodies, Shor...	ORPHA:2636
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
19P13.12 Microdeletion Syndrome	Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger, Hypothyroidism, Finger...	ORPHA:254346
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Orofacial clef...	ORPHA:268249
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop...	OMIM:308050
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conic...	OMIM:106260
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ...	OMIM:253010
Timothy Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Patent ductus ...	OMIM:601005
Isotretinoin Embryopathy-Like Syndrome	Anotia, Microtia, Cleft palate, Micrognathia	OMIM:243440
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Irregular dentition, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Microt...	OMIM:616006
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, Feeding difficulties in infancy, Vertebral segment...	ORPHA:2745
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Pro...	OMIM:200600
Kury-Isidor Syndrome	Finger syndactyly, Tented upper lip vermilion, Ventricular septal defect, Rocker bottom foot, Pro...	OMIM:619762
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Microdontia, Pulp calcification	OMIM:606895
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Tented upper lip vermilion, Dental crowding, Ventricular septal defect, Rocker bottom ...	OMIM:612582
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Microretrognathia, Finger syndactyly, Aganglionic megacolon, E...	ORPHA:59315
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:609192
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Ventricular septal defect, Aganglionic megacolon, Tapered finger, Patent ductus arteriosus, Inter...	OMIM:613870
Monosomy 18P	Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti...	ORPHA:1598
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Short neck, Cardiomegaly, Micrognathia, Multiple joint dislocation, Knee d...	OMIM:245600
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis	ORPHA:93324
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Facial hypotonia, Postaxial po...	OMIM:616362
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Feeding difficulties in infancy, Deep phil...	OMIM:115150
Femoral-Facial Syndrome	Short fourth metatarsal, Maternal diabetes, Micrognathia, Limited elbow movement, Hemivertebrae, ...	OMIM:134780
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Short neck, Micrognathia, Tibial bowing, High palate, Short philtrum, Microdonti...	ORPHA:251028
Immunodeficiency 95	Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia	OMIM:619773
Trisomy 20P	Short neck, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, Ver...	ORPHA:261318
1Q41Q42 Microdeletion Syndrome	Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation...	ORPHA:250999
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Cerebrooculonasal Syndrome	Encephalocele, Posteriorly rotated ears, Postaxial polydactyly, Craniosynostosis, Conductive hear...	OMIM:605627
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Orofacial cleft, High palate, Short...	ORPHA:958
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Aortic dissection	OMIM:135580
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Micrognathia, Short neck, Hand clenching, Downturned corners of mouth, Neonatal...	OMIM:616342
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:464
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High pala...	OMIM:613795
Mucolipidosis Type Ii	Knee flexion contracture, Abnormal long bone morphology, Otitis media, Conductive hearing impairm...	ORPHA:576
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Pr...	OMIM:620072
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges o...	ORPHA:2990
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Desmosterolosis	Low-set, posteriorly rotated ears, Intestinal malrotation, Micromelia, Micrognathia, Metatarsus a...	ORPHA:35107
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Myopathy, Feeding difficulties	ORPHA:26792
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Abnormality of the dentition, Cryptorchidism, Broad palm, Wide...	OMIM:618505
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Tracheomalacia, Micrognathia, Metatarsus adductus, Feeding difficult...	ORPHA:513456
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Nasogastric tube feeding in infancy, Metaphyse...	ORPHA:99646
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Thin upper lip vermilion, Long philtrum	OMIM:614741
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydr...	OMIM:314390
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion	OMIM:615560
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Ventricular septal defect, Fractured radius, Cardiomegaly, Short neck, Micrognathia,...	OMIM:616897
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Abnormality of the en...	ORPHA:166119
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Short neck, Micrognathia, Bowing of the legs, Pterygium, Anisospondyly, Encephalocele...	ORPHA:1865
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Underdeveloped superior crus of antihelix,...	ORPHA:369950
Albers-Schönberg Osteopetrosis	Carious teeth, Mandibular osteomyelitis, Abnormality of the dentition	ORPHA:53
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Pallister-Hall Syndrome	Adrenal hypoplasia, Gonadotropin deficiency, Hemivertebrae, Bifid uvula, Microretrognathia, Mesoa...	ORPHA:672
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Thrombocytopenia, Metaphyseal widening, Flexion contracture, Clubbing, Neut...	OMIM:617303
Koolen-De Vries Syndrome	Bicuspid aortic valve, High palate, Widely spaced teeth, Prominent fingertip pads, Atrial septal ...	OMIM:610443
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Rhizomelia, Micrognathia, Brachioradialis areflexia, Trismus, Flexion contr...	OMIM:616271
Noonan Syndrome 9	Ventricular septal defect, Short neck, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis, W...	OMIM:616559
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Respiratory distress, Narrow mouth, Mandibular aplasia, Microg...	ORPHA:990
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Micrognathia, Absent thumb, Aplasia/Hypoplas...	ORPHA:1234
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Humeroradial synostosis, Cleft palate, For...	OMIM:251230
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Supernumerary nipple, Cryptorchidi...	ORPHA:217346
Marden-Walker Syndrome	Skeletal muscle atrophy, Micrognathia, Abnormal form of the vertebral bodies, Bifid uvula, Arachn...	ORPHA:2461
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Delayed cranial su...	ORPHA:93325
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, High palate, Short philtrum, Camptodactyly of toe, Long phil...	ORPHA:261337
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Bowel incontinence, Kyphos...	OMIM:616482
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Diastasis recti, Cryptorchidism, Asthma, Wide mouth, Protuberant abdomen, Lo...	ORPHA:457485
Alagille Syndrome	Hypoplasia of the ulna, Ventricular septal defect, Butterfly vertebral arch, Micrognathia, Crypto...	ORPHA:52
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypne...	ORPHA:397715
Alkaptonuria	Arthropathy, Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic ...	OMIM:203500
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hypothyroidism, Hyperplasia of the ...	ORPHA:231226
Sonoda Syndrome	High axial triradius, Ventricular septal defect, Narrow mouth	OMIM:270460
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Epiphyseal stippling, Ventricular septal defect, Death in infancy	OMIM:614876
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Toe syndacty...	ORPHA:1512
Wrinkly Skin Syndrome	Congenital hip dislocation, Coxa vara, High palate, Microdontia, Microretrognathia, Scapular wing...	OMIM:278250
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Short neck, Micrognathia, Asplenia, Lobulated tongue...	OMIM:249000
Pyknoachondrogenesis	Craniofacial hyperostosis, Micromelia, Short iliac bones, Abdominal distention, Abnormal iliac wi...	ORPHA:3003
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Thin upper lip vermilion, Congenital hip dislocation, Supernumer...	ORPHA:457279
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect, Tongue fasciculations, Death in childhood	OMIM:253300
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Holoprosencephaly	Short neck, Abnormality of the spleen, Deep philtrum, Panhypopituitarism, Abnormal form of the ve...	ORPHA:2162
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Preaxial hand polydactyly, Deep phi...	ORPHA:1297
Gm1 Gangliosidosis	Mandibular prognathia, Abnormal form of the vertebral bodies, Cherry red spot of the macula, Hype...	ORPHA:354
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Gastroesophageal refl...	OMIM:113620
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Respiratory distress, Bilateral single transverse palmar creases, Micromelia,...	ORPHA:50810
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent duc...	OMIM:619909
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	ORPHA:280365
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Hypomandibular Faciocranial Dysostosis	Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Tracheal stenosis, Patent d...	ORPHA:1790
Mgat2-Cdg	Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phytohemagglutinin, Br...	ORPHA:79329
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Micrognathia, Downturned corners of mouth, Hypoplasia ...	OMIM:264090
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Posteriorly rotated ears, Postaxial polydactyly, Menin...	OMIM:614424
Intellectual Developmental Disorder, Autosomal Recessive 79	Thin upper lip vermilion, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of ...	OMIM:620393
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist...	OMIM:270420
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition	ORPHA:2036
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Short neck, Micrognathia, Hyp...	OMIM:615065
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Proximal placem...	OMIM:618624
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Mosaic Trisomy 16	Syndactyly, Single coronary artery origin, Ventricular septal defect, Single transverse palmar cr...	ORPHA:1708
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Rag...	OMIM:613561
Bresek Syndrome	Aganglionic megacolon, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, Cleft palate, P...	ORPHA:85284
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Neoplasm of the pancreas, Testicular neoplasm, Abdominal pain, Abdominal dis...	ORPHA:83469
Mend Syndrome	Microretrognathia, Overlapping toe, Broad hallux, Posteriorly rotated ears, Micrognathia, Long fi...	OMIM:300960
Focal Dermal Hypoplasia	Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa...	OMIM:305600
Joubert Syndrome 7	Encephalocele, Central apnea, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydacty...	OMIM:611560
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Microtia, Abnormal parotid gland morph...	OMIM:154500
King-Denborough Syndrome	Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Bilateral cryptorchi...	OMIM:619542
Bardet-Biedl Syndrome 1	Dental crowding, High, narrow palate, High palate, Syndactyly, Nephrogenic diabetes insipidus, Po...	OMIM:209900
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Posteriorly rotated ears, Down-sloping shoulders, Metatarsus adduct...	OMIM:227330
Cat Eye Syndrome	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Micrognathia, A...	OMIM:115470
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Rocker bottom foot, Adrenal hypoplasia, Micrognathia, Kyphos...	OMIM:275210
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Ventricular septal defect, Hydrocephalus, Meningocele, A...	OMIM:611134
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Triphalangeal th...	ORPHA:124
Noonan Syndrome 10	Ventricular septal defect, Short neck, Cubitus valgus, Cryptorchidism, Increased nuchal transluce...	OMIM:616564
Thyroid Lymphoma	Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido...	ORPHA:97285
Cranioectodermal Dysplasia 2	Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Simple ear, Syndactyly,...	OMIM:613610
Ctcf-Related Neurodevelopmental Disorder	Single transverse palmar crease, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Jo...	ORPHA:363611
Braddock Syndrome	Congenital muscular torticollis, Micrognathia, Short neck, Preaxial hand polydactyly, Hemivertebr...	ORPHA:52047
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Micrognathia, Cryptorchidism, Feeding difficulties, Hypoxemia, Microtia, Submu...	ORPHA:2282
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dental crowding, Micrognathia, Vascular dilatation, Long fingers, Varicose veins, Thin vermilion ...	OMIM:618343
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Bilateral cryptorchidism, Patent ...	OMIM:300472
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Al Amyloidosis	Gastrointestinal hemorrhage, Gastroparesis, Howell-Jolly bodies, Abdominal distention, Nonproduct...	ORPHA:85443
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con...	ORPHA:79408
Episodic Ataxia Type 1	Respiratory distress, Kyphoscoliosis, Vertigo, Calf muscle hypertrophy, Scoliosis, Hand clenching...	ORPHA:37612
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Arachnodactyly, Diastasis recti, Micrognathia, Precocious puberty, ...	OMIM:618971
Neu-Laxova Syndrome 1	Micromelia, Short neck, Swollen lip, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pter...	OMIM:256520
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arterio...	OMIM:277600
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an...	OMIM:613834
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Shagreen patch	OMIM:191100
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp...	OMIM:220110
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Microphthalmia, Syndromic 6	Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Uplifted earlobe, Protruding e...	OMIM:607932
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Cryptorchidism, Hemivert...	ORPHA:77298
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Panniculitis, Gingival overgrowth	ORPHA:508542
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Galloway-Mowat Syndrome 7	Hallux valgus, Ventricular septal defect, Single transverse palmar crease, Kyphoscoliosis, Microg...	OMIM:618348
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal defe...	OMIM:157800
Omodysplasia 1	Short neck, Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, I...	OMIM:258315
Sepsis In Premature Infants	Abnormal mucociliary clearance, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Leu...	ORPHA:90051
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati...	ORPHA:1675
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Posteriorly rotated ears, Wide anterior fontanel, Hand polydactyly, Hig...	OMIM:239710
Microcephaly-Cardiomyopathy Syndrome	Sandal gap, Ventricular septal defect, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ...	ORPHA:2515
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention, Delayed puberty	ORPHA:369
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Severe B lymphocytopenia, Single transverse palmar crease, Micrognathia, Bi...	ORPHA:83617
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Short nec...	OMIM:614294
Frontometaphyseal Dysplasia 2	Subglottic stenosis, Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Feedin...	OMIM:617137
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hypothyroidism, Hyperplasia of the maxilla, Hypop...	ORPHA:231214
Thyroid Ectopia	Abnormality of the thyroid gland, Abdominal distention, Macroglossia, Constipation, Ectopic thyro...	ORPHA:95712
Tetanus	Respiratory distress, Bowel incontinence, Abdominal pain, Trismus, Tachypnea, Dysphagia	ORPHA:3299
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrod...	OMIM:156400
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Productive cough, Nonproductive cou...	ORPHA:454836
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Anotia, Microtia, H...	OMIM:613717
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, High palate, S...	ORPHA:3306
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Gout, Chronic neutropenia, Epistaxis, Carious teeth, Diarrhea, Enterocolitis, Ulcerative colitis,...	ORPHA:79259
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Lymphadenopathy...	ORPHA:50251
Cerebrofacioarticular Syndrome	Syndactyly, Anal stenosis, Irregular dentition, Tracheomalacia, Micrognathia, Hypoplasia of the m...	ORPHA:314679
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Aspl...	OMIM:605376
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta...	ORPHA:3092
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Hypoplastic ischia	OMIM:616910
Craniofacial Microsomia 1	Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Vertebral hypopl...	OMIM:164210
Chitayat Syndrome	Hallux valgus, Respiratory distress, Thick vermilion border, Tracheomalacia, Brachydactyly	OMIM:617180
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an...	ORPHA:95430
Kenny-Caffey Syndrome, Type 1	Carious teeth, Calvarial osteosclerosis	OMIM:244460
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossifi...	ORPHA:93271
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul...	OMIM:108900
Cerebrocostomandibular Syndrome	Death in infancy, Ventricular septal defect, Spina bifida, Micrognathia, Kyphosis, Myelomeningoce...	ORPHA:1393
Osteogenesis Imperfecta	Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morpholo...	ORPHA:666
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Gorlin Syndrome	Mandibular prognathia, Carious teeth	ORPHA:377
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Cryptorchidis...	ORPHA:1300
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Diffuse Cutaneous Systemic Sclerosis	Nausea and vomiting, Malabsorption, Carious teeth, Dyspnea, Flexion contracture, Xerostomia, Arth...	ORPHA:220393
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Dental crowding, Kyphoscoliosis, High, narrow palate, Narrow mouth, Cryptorchidism...	OMIM:300967
Vacterl/Vater Association	Occipital encephalocele, Finger syndactyly, Cryptorchidism, Non-midline cleft lip, Preaxial hand ...	ORPHA:887
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Torticollis, Posteriorly rotated ears, Tapered finger, Submucous cleft ...	OMIM:619680
Malaria	Nausea and vomiting, Anemia, Respiratory distress, Thrombocytopenia	ORPHA:673
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Finger syndactyly, Camptodactyly of finger, Congenital diaphra...	ORPHA:2311
Microsporidiosis	Myositis, Sinusitis, Pneumonia, Anorexia, Abdominal pain, Abnormality of the spleen, Abnormality ...	ORPHA:2552
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Nephrotic Syndrome, Type 1	Neonatal respiratory distress, Pyloric stenosis, Abdominal distention, Gastroesophageal reflux, H...	OMIM:256300
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption	OMIM:606824
Combined Oxidative Phosphorylation Deficiency 53	Death in infancy, Abdominal distention, Hypochromic microcytic anemia, Arthritis, Generalized amy...	OMIM:619423
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Smooth philtrum, Overlapping toe, Abnormality of the dentition, Carious teeth, Velopharyngeal ins...	ORPHA:363444
3Mc Syndrome 1	Dental crowding, Ventricular septal defect, Supernumerary nipple, Cleft upper lip, Single interph...	OMIM:257920
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Vasculitis, Cervical ly...	ORPHA:2331
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho...	ORPHA:100050
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Gastroes...	ORPHA:2092
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Facial palsy, 2-3 finger syndactyly, Dental malocclusion, Faci...	OMIM:269500
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arteries, Micrognathia, C...	OMIM:620025
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula...	OMIM:610978
Hajdu-Cheney Syndrome	Short neck, Micrognathia, Downturned corners of mouth, Periodontitis, Partial absence of toe, Ope...	ORPHA:955
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Ventricular septal defect, Intestinal malro...	OMIM:244450
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect	OMIM:126320
Tetrasomy 9P	Joint dislocation, Dental crowding, Short neck, Micrognathia, Downturned corners of mouth, High p...	ORPHA:3310
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Short neck, Hemivertebrae, Tracheoesophag...	ORPHA:1780
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Cryptorchidism, Submucous cleft hard palate, Thick lower lip vermilion, Wi...	OMIM:619103
X Small Rings	Thin upper lip vermilion, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Short...	ORPHA:96201
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Cryptorchidism, Meningocele, Pate...	ORPHA:1827
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Left ventricular noncompaction	OMIM:613642
Curry-Jones Syndrome	Bicoronal synostosis, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip p...	OMIM:601707
Prader-Willi Syndrome	Decreased muscle mass, Decreased response to growth hormone stimulation test, Feeding difficultie...	OMIM:176270
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen...	OMIM:614557
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Long phi...	ORPHA:2308
Noonan Syndrome 8	Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Palmoplantar cut...	OMIM:615355
Trisomy 8Q	Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Non-midline cleft lip, Myelome...	ORPHA:1752
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short neck, Wide mouth, Pulmonic stenosis, Webbed neck, Atrial septal ...	OMIM:615279
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Triploidy	Low-set, posteriorly rotated ears, Finger syndactyly, Intestinal malrotation, Micrognathia, Crypt...	ORPHA:3376
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulmonary artery st...	OMIM:301030
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Supernumerary nipple, Short n...	ORPHA:1001
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Abnormal aortic morphology	ORPHA:3222
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cryptorchidism, Sensorineura...	OMIM:614230
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Hydrocephal...	ORPHA:974
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Microcytic anemia, Flexion contracture, Elevated circulating thyroid-sti...	OMIM:256040
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Leukopenia, High palate, Triphalangeal thumb, Atrial sep...	ORPHA:84
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta, Tracheoesophageal fistula,...	OMIM:619227
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Malignant Peritoneal Mesothelioma	Dyspnea, Abdominal distention, Ileus, Abdominal pain	ORPHA:168811
Kindler Epidermolysis Bullosa	Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodactyly of finger, Cari...	ORPHA:2908
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c...	OMIM:109730
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral e...	OMIM:271640
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phal...	ORPHA:508533
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Scoliosis, Umbilical ...	OMIM:617751
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormality of the parathyroid gland, Secondary hyperparathyroidism	ORPHA:140286
Hyperparathyroidism-Jaw Tumor Syndrome	Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperp...	ORPHA:99880
Hajdu-Cheney Syndrome	Short neck, Micrognathia, High palate, Premature loss of teeth, Dislocated radial head, Cryptorch...	OMIM:102500
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Carious teeth, Feeding difficulties in infancy, Xero...	ORPHA:1051
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Apnea, Premature loss of primary teeth, Cran...	ORPHA:667
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly...	ORPHA:160148
Cholesteryl Ester Storage Disease	Acute hepatic failure, Death in infancy, Adrenal calcification, Bone-marrow foam cells, Hypersple...	OMIM:278000
Cockayne Syndrome Type 3	Carious teeth, Enamel hypoplasia, Flexion contracture	ORPHA:90324
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Cleft upper lip, Micrognathia, Kyphosis, Patent ductus arteriosus, Tet...	OMIM:153400
Toriello-Carey Syndrome	Aganglionic megacolon, Short neck, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Cleft ...	ORPHA:3338
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Apnea, Bilateral cryptorchidism, Distal widening of meta...	OMIM:602535
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, High palate, ...	ORPHA:480880
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Atrial septal defect, Ventricular septal d...	OMIM:614609
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Ventricular septal defect, Micrognathia, Complete atrioventri...	OMIM:236680
Letterer-Siwe Disease	Abdominal distention, Thrombocytopenia, Dyspnea, Hepatosplenomegaly, Neutropenia, Stomatitis, Anemia	OMIM:246400
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Supernumerary nipple, Uplifted earlobe, Pyloric...	OMIM:235730
Weiss-Kruszka Syndrome	Prominent metopic ridge, Bicuspid aortic valve, Exaggerated cupid's bow, Ventricular septal defec...	OMIM:618619
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Skeletal muscle atrophy, Intestinal pseudo-obstruction, Gastr...	ORPHA:1876
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Feeding difficulties, Left ventricular hypertrophy, He...	OMIM:616733
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Micrognathia, Cleft li...	OMIM:618454
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Carotid artery dissection, Arachnodactyly, Hiatus hernia, Micrognathia, ...	OMIM:208050
19P13.3 Microduplication Syndrome	Ventricular septal defect, Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Precocious pu...	ORPHA:447980
Congenital Disorder Of Glycosylation, Type Iiw	Micrognathia, Microcytic anemia, Thrombocytopenia, Supernumerary tooth, Splenomegaly, Gastroesoph...	OMIM:619525
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta...	ORPHA:980
Spondylodysplastic Ehlers-Danlos Syndrome	Joint dislocation, Abnormality of the temporomandibular joint, Single transverse palmar crease, M...	ORPHA:536471
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Long neck, Cle...	ORPHA:1724
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Abdominal pain, Feeding difficulti...	OMIM:620166
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Micrognathia, Abnormality of...	ORPHA:284160
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, W...	OMIM:617635
Parathyroid Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperp...	ORPHA:143
Ane Syndrome	Carious teeth, Premature loss of teeth, Hypodontia	ORPHA:157954
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Otitis media, Ciliary dyskinesia...	OMIM:606763
Ulbright-Hodes Syndrome	Respiratory distress, Maternal diabetes, Micrognathia, Ovoid thoracolumbar vertebrae, High palate...	ORPHA:3404
Joubert Syndrome 23	Sensorineural hearing impairment, Tachypnea, Polydactyly, Apnea	OMIM:616490
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, Micrognathia, Feeding d...	ORPHA:199
Wolcott-Rallison Syndrome	Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Iron...	ORPHA:1667
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Hypogonadism, Polydactyly	OMIM:617119
Incontinentia Pigmenti	Delayed eruption of teeth, Scarring, Conical tooth, Oligodontia, Hypodontia	OMIM:308300
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter...	ORPHA:3097
Zttk Syndrome	Hypoplasia of the maxilla, Feeding difficulties in infancy, Flexion contracture, Hemivertebrae, P...	OMIM:617140
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Respiratory distress, Dysphagia	ORPHA:240103
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, Sagittal craniosynostosis, High palate, Broad alveolar ridges, Lambdoi...	OMIM:314320
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Pyloric stenosis, Patent ductus arteriosus, Hydrocephalus, Cryptorchidism	OMIM:218350
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Anorexia, Crackles, Nonproductive cou...	ORPHA:1302
Wrinkly Skin Syndrome	Delayed eruption of teeth, Decreased muscle mass, Congenital hip dislocation, Delayed closure of ...	ORPHA:2834
Cardiac Valvular Dysplasia 1	Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val...	OMIM:212093
Coffin-Siris Syndrome 1	Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Feeding difficul...	OMIM:135900
Alternating Hemiplegia Of Childhood	Respiratory distress, Facial hypotonia, Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dyspha...	ORPHA:2131
Walker-Warburg Syndrome	Skeletal muscle atrophy, Posteriorly rotated ears, Cryptorchidism, Submucous cleft hard palate, C...	ORPHA:899
Farber Disease	Respiratory distress, Skeletal muscle atrophy, Abnormality of the knee, Abnormality of the hand, ...	ORPHA:333
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cleft upper li...	OMIM:615849
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Metopic suture patent to nas...	ORPHA:3369
Degcags Syndrome	Micrognathia, Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroe...	OMIM:619488
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease...	ORPHA:3472
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Cryptorchidism, Thick lower lip vermilion, F...	ORPHA:1465
Distal Duplication 17Q	Accessory spleen, Thin upper lip vermilion, Hallux valgus, Arachnodactyly, Rhizomelia, Overlappin...	ORPHA:3379
Microphthalmia, Isolated 4	Absent testis, Postaxial polydactyly	OMIM:613094
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties in infan...	OMIM:257200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Achilles tendon calcification, Elevated circulating parathyroid hormone level, Parathyroid hyperp...	OMIM:617994
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet...	ORPHA:191
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial...	ORPHA:1553
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Hemivertebrae, Widely-spaced maxillary central incisors, Tapered finger, D...	OMIM:301040
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Antecubital pt...	OMIM:618469
Biemond Syndrome Ii	Preaxial hand polydactyly	OMIM:210350
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Feeding difficulties, Stridor, Vo...	ORPHA:137935
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Asplenia, Cleft lip, Cryptorchidism, Kyphosis, Cleft pal...	OMIM:619123
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Short neck, ...	OMIM:224400
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li...	ORPHA:93311
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Cryptorchidism, Short toe, Orofacial cleft, Thin vermilion border, Everted low...	ORPHA:1519
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Short neck, Micrognathia, Atrial septal ...	OMIM:613458
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Brachydactyly, Abnormality of the philtrum, Ventricular septal defect, Non-midline cleft lip, Cle...	ORPHA:1770
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Anal stenosis, Micrognathia, Narrow mouth, 2-3 toe cutaneous syndactyly...	OMIM:620029
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Vertebral segmentation defect, Narrow gre...	OMIM:312870
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy, High palate, Pulmonary arterial hypertension	OMIM:619272
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, High, narrow palate, High palate, Atr...	OMIM:163950
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Respiratory distress	OMIM:619466
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia, Axial muscle stiffness	ORPHA:240085
Nephrotic Syndrome, Type 11	Ventricular septal defect, Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb ...	OMIM:616730
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Micrognathia, Neonatal death, Arthrogrypo...	OMIM:253310
Noonan Syndrome 4	Ventricular septal defect, Short neck, Cubitus valgus, Cryptorchidism, Dental malocclusion, Wide ...	OMIM:610733
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contra...	OMIM:130070
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia, Low-set ears...	OMIM:601163
Coffin-Siris Syndrome 12	Micrognathia, Protruding ear, High palate, Gastroesophageal reflux, Hypothyroidism, Simple ear, F...	OMIM:619325
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Myopathy	ORPHA:91130
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Leu...	ORPHA:36238
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Ventricular septal defect, Tarsal synostosis, Multiple pterygi...	OMIM:178110
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B...	ORPHA:411703
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Thrombocytopenia, Splenomega...	ORPHA:79312
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Diarrhea, Vomiting, Feeding difficulties	OMIM:612075
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly	OMIM:615397
Floating-Harbor Syndrome	Enlarged joints, Hypoplasia of the maxilla, Humeral pseudarthrosis, Oligodontia, Gastroesophageal...	ORPHA:2044
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Abnormal morphology of ulna, Feeding difficulties in infancy, ...	ORPHA:1340
Fanconi Anemia, Complementation Group D2	Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Esophageal atresia, Patent ductus ...	OMIM:227646
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Hydrocephalus, Postaxial hand polydactyly, Abnormal cardiac septum mor...	ORPHA:83473
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Macrodontia, Ventricular septal defect, Thoracolumbar kyphoscoliosis, Prot...	OMIM:212066
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Respiratory distress, Neonatal resp...	ORPHA:209905
Primary Pulmonary Hypoplasia	Dextrocardia, Micrognathia, Secundum atrial septal defect, Cleft palate, Patellar hypoplasia, Abn...	ORPHA:2257
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Hypoplasia of the ulna...	OMIM:200980
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Short neck, Microg...	OMIM:612474
Faciocardiomelic Syndrome	Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusion, Wide mouth, Slender long bone,...	OMIM:612731
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Respiratory distress, Neonatal respira...	OMIM:260400
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Atrial septal defect, Redundant neck skin, Short lingual frenulum, Vent...	OMIM:617360
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Ventricular septal defect, Single transverse palmar crease, Adrenal hypoplas...	OMIM:214100
Castleman Disease	Nausea and vomiting, Intestinal obstruction, Generalized lymphadenopathy, Abdominal pain, Follicu...	ORPHA:160
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomegaly, Micrognath...	OMIM:614921
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cry...	OMIM:613457
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypoplastic ilia, Hip dislocation...	OMIM:615349
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, High palate	OMIM:609654
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Sandal gap, Supe...	OMIM:612530
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pu...	ORPHA:99125
Chylomicron Retention Disease	Acanthocytosis, Abdominal distention, Diarrhea, Myopathy, Fat malabsorption, Vomiting, Steatorrhe...	ORPHA:71
Primary Dystonia, Dyt4 Type	Respiratory distress, Torticollis, Kyphoscoliosis, Dysphagia, Movement abnormality of the tongue,...	ORPHA:98805
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus arteriosus, Orofacia...	ORPHA:2328
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Kyphoscoliosis, Hemivertebrae, Punc...	OMIM:302960
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Hyperparathyroidism, Short femur, Wide cranial sutures, Metaphyseal spurs, ...	OMIM:618188
Neurocardiofaciodigital Syndrome	Syndactyly, Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Thin vermilion b...	OMIM:619869
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Tooth abscess, Enthesitis	ORPHA:289176
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux,...	OMIM:613803
Oculopharyngodistal Myopathy 1	Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci...	OMIM:164310
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Acute Intermittent Porphyria	Nausea and vomiting, Proximal muscle weakness in upper limbs, Abdominal pain, Abdominal distentio...	ORPHA:79276
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Laryngeal stenosis, Erosion of oral mucosa, Abnormal oral mucosa morphology...	ORPHA:79404
Distal Duplication 5Q	Micrognathia, Carious teeth, Thin vermilion border, Narrow mouth, Long philtrum	ORPHA:96097
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Primary Hepatic Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy, Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodi...	ORPHA:100085
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp...	ORPHA:140896
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Macrotia,...	ORPHA:2785
Genitopatellar Syndrome	Congenital hip dislocation, Micrognathia, Knee flexion contracture, Anteriorly placed anus, Hypot...	OMIM:606170
Kleefstra Syndrome Due To 9Q34 Microdeletion	Protruding tongue, Cryptorchidism, Conotruncal defect, Coarctation of aorta, Downturned corners o...	ORPHA:96147
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Brachydactyly, Micrognathia, External ear malformation, Absent r...	ORPHA:233
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Corneal scarring, Keloids, Enamel hypoplasia, Joint contracture of the hand	OMIM:309000
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the ear, Downturned corners...	ORPHA:3455
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Splenomegaly, Hydrocephalus, Postaxial hand polydactyly, Orofacial cle...	OMIM:615630
Loeys-Dietz Syndrome	Joint dislocation, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Arterial tortuosity...	ORPHA:60030
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Median cleft lip, Overriding aorta, Hypoplas...	ORPHA:3186
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ...	OMIM:617982
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Lymphoid nodular hyperplasia, Preaxial hand polydactyly, Foot polydactyly	ORPHA:210548
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Delayed closure of the anterior ...	OMIM:618460
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short t...	OMIM:613390
Frontorhiny	Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Cleft pa...	ORPHA:391474
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Neoplasm of the pancreas, Torticollis, Anorexia, Precocious puberty, Abdomin...	ORPHA:370348
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pul...	OMIM:618021
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormal stomach morphology, Ascending aorta hypoplasia, Patent ductus...	ORPHA:141127
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bo...	OMIM:194190
3Q29 Microduplication Syndrome	Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Abnormality of the denti...	ORPHA:251038
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct...	ORPHA:2519
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Cryptorchidism, Respiratory insufficiency, Short long bone, Brachydactyly	OMIM:615633
Holoprosencephaly 14	Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Cleft...	OMIM:619895
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen cont...	ORPHA:367
Short Stature-Micrognathia Syndrome	Ventricular septal defect, Rhizomelia, Micrognathia, Bowing of the legs, Cryptorchidism, Metaphys...	OMIM:617164
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl...	OMIM:618748
Gonadoblastoma	Abdominal pain, Abdominal distention, Increased serum testosterone level, Ovarian gonadoblastoma,...	ORPHA:206484
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v...	ORPHA:2184
Ovarian Fibrothecoma	Ovarian fibroma, Abdominal pain, Abdominal distention, Abnormal circulating hormone concentration...	ORPHA:314478
Ring Chromosome 12 Syndrome	Syndactyly, Lumbar hyperlordosis, High, narrow palate, Abnormal 5th finger morphology, Cryptorchi...	ORPHA:1439
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Anotia, Microtia, Conductive hearing impairment	OMIM:251800
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the f...	ORPHA:2256
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Sagittal cranios...	OMIM:615879
Atelosteogenesis Type I	Joint dislocation, Laryngeal stenosis, Short femur, Rhizomelia, Micrognathia, Malrotation of colo...	ORPHA:1190
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy	ORPHA:103910
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr...	ORPHA:216694
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met...	OMIM:272950
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega...	OMIM:614749
Aortic Valve Disease 2	Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As...	OMIM:614823
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology	ORPHA:79430
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the abdominal wall musculature, High, narrow p...	OMIM:612289
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Dental crowding, Rectal prolapse, Short metatarsal, Pseudohypoparathyroidism, F...	OMIM:617157
Spondylo-Ocular Syndrome	Ventricular septal defect, Short neck, Low posterior hairline, Platyspondyly, Thin vermilion bord...	ORPHA:85194
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Leiomyos...	ORPHA:116
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Cardiomyopathy, Redundant neck skin	OMIM:619003
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Adrenal calcification, Bone-marrow foam cell...	ORPHA:275761
Congenital Sialidosis Type 2	Protruding tongue, Gingival overgrowth, Hepatosplenomegaly, Polydactyly, Low-set ears, Umbilical ...	ORPHA:93400
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abdominal pain, Ab...	ORPHA:180229
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Seckel Syndrome 9	Ventricular septal defect, Micrognathia, Pulmonary artery hypoplasia, Talipes equinovarus, Atrial...	OMIM:616777
Bacterial Toxic-Shock Syndrome	Respiratory distress, Myositis, Sinusitis, Pneumonia, Abdominal pain, Diarrhea, Increased circula...	ORPHA:36234
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth	OMIM:617799
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Short neck, Micrognathia, Hemivertebrae,...	ORPHA:96121
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Short neck, High, narrow palate, Vertebral seg...	ORPHA:373
Meester-Loeys Syndrome	Joint dislocation, Arachnodactyly, Gingival overgrowth, Mitral valve prolapse, Ascending tubular ...	OMIM:300989
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Short neck, Abs...	OMIM:609053
Idiopathic Neonatal Atrial Flutter	Feeding difficulties in infancy, Tachypnea, Respiratory distress, Maternal diabetes	ORPHA:45452
Trisomy 18	Holoprosencephaly, Atrial septal defect, Bilateral single transverse palmar creases, Microretrogn...	ORPHA:3380
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Hardikar Syndrome	Vomiting, Cleft soft palate, Thoracolumbar scoliosis, Abdominal pain, Vertigo, Hepatosplenomegaly...	OMIM:301068
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Chops Syndrome	Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Cryptorchidism, Splenom...	OMIM:616368
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome...	ORPHA:365
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Feedi...	ORPHA:308552
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Dyskeratosis Congenita, Autosomal Recessive 1	Microdontia, Carious teeth, Oral leukoplakia	OMIM:224230
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia...	ORPHA:2140
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hyposegmentati...	OMIM:614800
Retinitis Pigmentosa 89	Esophageal varix, Postaxial polydactyly, Hepatosplenomegaly	OMIM:618955
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Alg9-Cdg	Villous atrophy, Short neck, Micrognathia, Right ventricular dilatation, Abnormal left ventricula...	ORPHA:79328
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Congenit...	OMIM:601803
Necrotizing Enterocolitis	Apnea, Abdominal distention, Diarrhea, Leukocytosis, Bloody diarrhea, Vomiting, Neutropenia, Thro...	ORPHA:391673
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Asplenia, Calcaneova...	ORPHA:261537
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Microdontia, Clin...	OMIM:618268
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Secretory diarrhea, Iron deficiency anemia, Colitis, Vomiting, Ne...	ORPHA:37042
Fetal Gaucher Disease	Death in infancy, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage,...	ORPHA:85212
Nephronophthisis 15	Polydactyly	OMIM:614845
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Short neck, Micrognathia, High, narrow palat...	ORPHA:2879
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Upper airway obstruction, Swollen lip	ORPHA:100057
Microcephaly-Capillary Malformation Syndrome	Brachydactyly, Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Atrial septal ...	OMIM:614261
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Sagittal craniosynost...	OMIM:618027
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A...	OMIM:611561
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Feeding difficulties in infancy, Gastrointestinal dysmotility, Hemiver...	ORPHA:500150
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Micrognathia, Precocious pu...	OMIM:619312
Marfan Syndrome	Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Arachnodactyly, Open ...	ORPHA:558
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Hypoplast...	OMIM:263650
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ni...	OMIM:100300
Kabuki Syndrome	Hemivertebrae, Orofacial cleft, Abnormal form of the vertebral bodies, High palate, Widely spaced...	ORPHA:2322
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Cryptorchidism, Feeding difficulties, Death in childhood, Thrombocytopenia	OMIM:615597
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Ventricular septal defect, Craniosynostosis, Micrognathia, Abnor...	ORPHA:166035
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Vasculitis...	ORPHA:906
Woods Syndrome	Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, 3-4 finger cuta...	OMIM:615236
Nipah Virus Disease	Nausea and vomiting, Respiratory distress, Anorexia, Vertigo, Cough	ORPHA:99825
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Splenomegaly, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough...	ORPHA:2414
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ...	ORPHA:280
Hartsfield Syndrome	Syndactyly, Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Cleft upper lip, Crypto...	OMIM:615465
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Broad toe, Prominent metopic ridge, Tented upper lip vermilion, Ventricula...	ORPHA:488632
Triosephosphate Isomerase Deficiency	Normocytic anemia, Skeletal muscle atrophy, Death in infancy, Hemolytic anemia, Macrocytic anemia...	OMIM:615512
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries, Ankle clonus, High palate, ...	OMIM:619995
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion	OMIM:259730
Wilson Disease	Acute hepatic failure, Hypoparathyroidism, Hemolytic anemia, Abdominal distention, Osteoarthritis...	OMIM:277900
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Asplenia, Gastrointe...	ORPHA:2152
Succinic Acidemia	Respiratory distress	OMIM:600335
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,...	ORPHA:927
Mend Syndrome	Thickened nuchal skin fold, Broad hallux, Overlapping toe, Asymmetry of the mouth, Micrognathia, ...	ORPHA:401973
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hyp...	ORPHA:264200
Cockayne Syndrome B	Mandibular prognathia, Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Ca...	OMIM:133540
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Neo...	OMIM:620024
Chromosome 1P36 Deletion Syndrome, Distal	Feeding difficulties in infancy, Orofacial cleft, High palate, Gastroesophageal reflux, Clinodact...	OMIM:607872
Thoracoabdominal Syndrome	Cleft upper lip, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Cleft palate, Transpositio...	OMIM:313850
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth	OMIM:263630
Jansen-De Vries Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Small ...	OMIM:617450
Epidermolysis Bullosa Simplex With Pyloric Atresia	Oral mucosal blisters, Abdominal distention, Flexion contracture, Congenital pyloric atresia, Mic...	ORPHA:158684
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, Incomplete part...	OMIM:617660
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Cleft palate, Femoral bowing, ...	OMIM:616462
Fryns Syndrome	Tented upper lip vermilion, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal ...	OMIM:229850
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Atrial se...	OMIM:617063
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain	ORPHA:168829
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Webbed neck, Dermatoglyphic...	ORPHA:99413
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Anteriorly place...	ORPHA:1488
Mosaic Monosomy X	Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Webbed neck, Dermatoglyphic...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Webbed neck, Dermatoglyphic...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Short neck, Micrognathia, High, narrow palate, Webbed neck, Dermatoglyphic...	ORPHA:881
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Lumbar hyperlordosis, Thrombocytopenia, Flexion contracture, Hepatosplenome...	ORPHA:505248
Restrictive Dermopathy	Natal tooth, Thoracic kyphoscoliosis, Multiple joint contractures, Camptodactyly of finger, Micro...	ORPHA:1662
8Q12 Microduplication Syndrome	Ventricular septal defect, Narrow mouth, Short foot, Everted lower lip vermilion, Long philtrum, ...	ORPHA:228399
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Knee flexion co...	OMIM:618733
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Brach...	OMIM:603233
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal diabetes, Cleft...	ORPHA:563609
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure...	OMIM:614299
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death	OMIM:619817
Keutel Syndrome	Calcification of the auricular cartilage, Ventricular septal defect, Miscarriage, Short hallux, C...	OMIM:245150
Meckel Syndrome	Encephalocele, Accessory spleen, Bowing of the long bones, Pancreatic fibrosis, Aplasia/Hypoplasi...	ORPHA:564
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ...	OMIM:136140
Hereditary Spherocytosis	Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Abdominal pain, Abdo...	ORPHA:822
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Narrow mouth, Atrial septal defect,...	ORPHA:3469
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Cleft lip, Pulmonary artery stenosis, Cleft palate, Adrenal gland agen...	OMIM:611812
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Aase-Smith Syndrome I	Death in infancy, Ventricular septal defect, Hydrocephalus, Cleft palate, Talipes equinovarus, Op...	OMIM:147800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Subglottic stenosis, Decreased response to growth hormone stimulation test, Micrognathia, Downtur...	ORPHA:444077
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Proximal placement of thumb, Micrognathia, Cryptorchidism, Thrombocyto...	ORPHA:261250
Joubert Syndrome 20	4-5 toe syndactyly, Respiratory insufficiency, Postaxial polydactyly	OMIM:614970
Liver Failure, Infantile, Transient	Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V...	OMIM:613070
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, Hypothyroidism, 2...	OMIM:107480
Zellweger Syndrome	Thickened nuchal skin fold, Death in infancy, Ventricular septal defect, Malabsorption, Micrognat...	ORPHA:912
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, High palate, At...	OMIM:147920
Leprechaunism	Skeletal muscle atrophy, Enlarged ovaries, Abdominal distention, Rectal prolapse, Hyperinsulinemi...	ORPHA:508
Acro-Renal-Ocular Syndrome	Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Aganglionic megacolon, Broad hallux ...	ORPHA:959
Liver Disease, Severe Congenital	Chronic gastritis, Micrognathia, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Vom...	OMIM:619991
Japanese Encephalitis	Respiratory distress, Skeletal muscle atrophy, Neutrophilia, Genu recurvatum, Facial palsy, Anore...	ORPHA:79139
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Decreased testicular size, Ve...	ORPHA:459070
Myotonic Dystrophy 1	Respiratory distress, Feeding difficulties in infancy, Facial diplegia, Hypogonadism, Dysphagia, ...	OMIM:160900
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Kyphosis,...	OMIM:616449
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Pancrea...	OMIM:263520
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Abn...	ORPHA:2847
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Micrognath...	ORPHA:96191
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Abdominal pain, Abdominal distention, Vomiting, Nausea	ORPHA:90003
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ...	OMIM:619534
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt...	OMIM:249270
Holoprosencephaly 2	Aplasia of the premaxilla, Adrenal hypoplasia, Submucous cleft hard palate, Absent nasal septal c...	OMIM:157170
Popliteal Pterygium Syndrome	Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal ptery...	OMIM:119500
Carnitine Deficiency, Systemic Primary	Respiratory distress, Diarrhea, Myopathy, Vomiting, Reduced muscle carnitine level	OMIM:212140
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Single transverse palmar crease, Gastrointest...	ORPHA:466943
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Sagittal craniosynostosis, Cryptorch...	OMIM:609942
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Distal Deletion 19P	Long toe, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Sho...	ORPHA:96129
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Micrognathia, Increased nuchal translucency, Cleft palate, Coarctation of a...	ORPHA:1052
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he...	ORPHA:488618
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Proteus Syndrome	Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Abnormal finger morphology, Ab...	ORPHA:744
Septooptic Dysplasia	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Polydactyly...	OMIM:182230
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Fanconi-Bickel Syndrome	Diabetes mellitus, Abdominal distention, Bowing of the long bones, Hepatic failure	ORPHA:2088
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Congenital hip dislocation, Maternal diabetes, Short ...	OMIM:300855
Kbg Syndrome	Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Single transverse palmar c...	OMIM:148050
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom...	ORPHA:64739
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Abnormality of the...	ORPHA:85276
Phelan-Mcdermid Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Dental malocclusion, 2-3 toe s...	OMIM:606232
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Lumbar hyperlordosis, Ventricular septal defect, Micrognathia, Cleft lip, Patent duct...	OMIM:616975
Warsaw Breakage Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Wide mouth, High ...	OMIM:613398
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Microgn...	ORPHA:2556
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Death in infancy, Proximal placement of thumb, Anisop...	OMIM:615789
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Leukocytosis, Flexion contracture, Genu valgum, Downtu...	OMIM:619321
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Nausea and vomiting, Respiratory distress, Anemia, Neutropenia, Thrombocytopenia	ORPHA:289916
Roberts-Sc Phocomelia Syndrome	Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal d...	OMIM:268300
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas...	OMIM:603554
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect,...	ORPHA:49827
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, D...	OMIM:618371
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Anterior pituitary hy...	ORPHA:464306
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short neck, Bilateral cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Lumbar hemiv...	OMIM:619859
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Absent nipple, Hemivertebrae, Umbilical hernia, High pala...	OMIM:104350
Limb Body Wall Complex	Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Atrial septal defect,...	ORPHA:2369
Mucopolysaccharidosis Type 2, Severe Form	Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Abnormal vertebra...	ORPHA:217085
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Nasogastric tube feeding in...	ORPHA:206436
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Feeding difficulties in infancy, Submucous cleft hard palate, Flexion contracture, Generalized li...	OMIM:618891
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Autoamputation of digits, Respiratory distress, R...	OMIM:256810
Acquired Methemoglobinemia	Respiratory distress, Abdominal pain, Dyspnea, Vertigo, Hypoxemia, Vomiting, Methemoglobinemia	ORPHA:464453
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia, Anemia, Hepatosplenomegaly	OMIM:273680
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Asplenia, Calcaneova...	ORPHA:261552
Atypical Werner Syndrome	Abnormal cerebral vascular morphology, Micrognathia, Fasting hyperinsulinemia, Finger clinodactyl...	ORPHA:79474
Neuroocular Syndrome	Hyperextensibility of the finger joints, Genu recurvatum, Downturned corners of mouth, Widely spa...	OMIM:619539
Meconium Aspiration Syndrome	Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, As...	ORPHA:70588
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Vomiting	OMIM:237310
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Kindler Syndrome	Carious teeth, Periodontitis, Oral leukoplakia, Gingivitis	OMIM:173650
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Abnormal vertebra...	ORPHA:217093
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Downturned corners of mouth, Widely spaced teeth, Short philtrum, Atrial septal ...	OMIM:301044
15Q14 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, ...	ORPHA:261190
Camurati-Engelmann Disease	Mandibular prognathia, Carious teeth	OMIM:131300
Isolated Atp Synthase Deficiency	Hypogonadism, Sensorineural hearing impairment, Hypothyroidism, Respiratory distress	ORPHA:254913
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal pain, Abdominal distention, Vertigo, Leukocytosis, Recurrent infection of the...	ORPHA:51890
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Tyshchenko Syndrome	Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Cleft palat...	OMIM:615102
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Miscarriage, Ventricular septal defect, Proxim...	ORPHA:2438
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Situs inversus totalis, Abnormality of the spleen,...	ORPHA:991
Stt3B-Cdg	Respiratory distress, Cryptorchidism, Thrombocytopenia, Feeding difficulties	ORPHA:370924
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Adrenal hypopl...	ORPHA:2166
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Mccune-Albright Syndrome	Intestinal polyposis, Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated c...	OMIM:174800
Bardet-Biedl Syndrome 8	Hypogonadism, Postaxial polydactyly	OMIM:615985
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Single transverse palmar crease, Supernumera...	OMIM:613884
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent...	ORPHA:2241
Peritoneal Cystic Mesothelioma	Abdominal distention, Constipation, Abdominal pain	ORPHA:168816
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention...	ORPHA:436252
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad...	ORPHA:91359
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st...	OMIM:245590
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Micrognathia, Rectal ...	ORPHA:904
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A...	ORPHA:158668
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Hy...	OMIM:618500
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Sensorineural hearing impairment, Feeding difficulties, Chronic constipation, Low-set...	OMIM:616430
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit...	ORPHA:3138
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Wi...	ORPHA:466791
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Pate...	OMIM:619268
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Ventricular septal defect, Short neck, Hypoplasia of the maxilla, Tapered ...	OMIM:609460
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Open mouth, Ventricular septal defect	OMIM:616816
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Scapular winging, Dental crowding, Micrognathia, Kyphosis, K...	OMIM:620351
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se...	ORPHA:99094
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As...	ORPHA:402075
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Exaggerated cupid's bow, Spina bifida, Tapered finger, Cyst of the ductus choledochu...	OMIM:619480
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep...	OMIM:613001
Myopathy With Extrapyramidal Signs	Tented upper lip vermilion, Ventricular septal defect, Short neck, Splenomegaly, Leukocytosis	OMIM:615673
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Skeletal muscle atrophy, Anorexia, Abnormality of the thyroid gland, Kyphosis,...	ORPHA:1969
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Townes-Brocks Syndrome	Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Atrial septal defect...	ORPHA:857
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal thumb morphology,...	ORPHA:500095
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Diastasis recti, Unilateral hypoplasia of pectoralis major mu...	ORPHA:1521
Glycogen Storage Disease Ib	Pancreatic fibrosis, Splenomegaly, Neutropenia, Oral ulcer, Gout, Inflammation of the large intes...	OMIM:232220
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Talipes equinovarus, Anal atresia	OMIM:601389
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Feeding difficulties, Stridor, Gastroesophageal reflux, Increased variabili...	OMIM:615595
Sotos Syndrome	No permanent dentition, Flexion contracture, Gastroesophageal reflux, Conductive hearing impairme...	ORPHA:821
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal heart valve morphology, A...	ORPHA:580
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Isolated Arrhinia	Respiratory distress, Microtia, Hypoplasia of the nasal bone, Absent nasal septal cartilage	ORPHA:1134
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect, Scoliosis	ORPHA:357225
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hydrocephalus, Clef...	OMIM:309801
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Pectoral m...	ORPHA:306542
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention	OMIM:618528
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Single transverse palmar crease, Micrognathia, Bilatera...	OMIM:150230
Fraser Syndrome	Subglottic stenosis, Laryngeal stenosis, Dental crowding, Orofacial cleft, Vertebral segmentation...	ORPHA:2052
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Supernumerary nipple, Cryptorch...	ORPHA:3255
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Abnormal pinna morphology, Wide anterior fontanel, Vomiting, Neonatal death...	OMIM:231680
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Micrognathia, Calcaneo...	ORPHA:3078
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Neutrophilia, Splenomegaly, Fused cervical vertebrae, Joint swelling, Stoma...	OMIM:612852
Okamoto Syndrome	Tented upper lip vermilion, Redundant neck skin, Primum atrial septal defect, Downturned corners ...	ORPHA:2729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g...	OMIM:253800
Proximal Renal Tubular Acidosis	Enamel hypomineralization	ORPHA:47159
Delpire-Mcneill Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Hip dislocation	OMIM:619083
Fetal Akinesia Deformation Sequence 1	Short neck, Micrognathia, High, narrow palate, High palate, Wrist flexion contracture, Elbow anky...	OMIM:208150
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Exercise-induced rhabdomyolysis, Episodic tachypnea, Pneumonia, Tachypnea, ...	ORPHA:26793
Yunis-Varon Syndrome	Redundant neck skin, Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single...	OMIM:216340
Plague	Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Diarrhea...	ORPHA:707
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Camptodactyly of fi...	ORPHA:261236
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hypertension	OMIM:215600
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Ventricular septal defect, Microgna...	OMIM:309500
Renal-Hepatic-Pancreatic Dysplasia 1	Pancreatic fibrosis, Intestinal malrotation, Situs inversus totalis, Asplenia, Patent ductus arte...	OMIM:208540
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, L...	ORPHA:2211
Mirizzi Syndrome	Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Gallbladder perforation, Vomitin...	ORPHA:521219
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Persistent open anterior fontanelle, Ventricular septal defect, Single transver...	OMIM:614866
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Cryptorchidism, Ventricular septal defect, Death in infancy	OMIM:613730
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormality of the neck, Clinodactyly of the 5th finger, Hypothyroidis...	ORPHA:1606
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Neonatal death	OMIM:245650
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
Weill-Marchesani Syndrome	Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly	ORPHA:3449
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Cryptorchidism, Sensorineural hearing impairment, Vomiting, Postaxial polydactyly	OMIM:615824
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P...	ORPHA:95455
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Facial hypotonia, Single transverse palmar crease, Oral-pharyngeal dysphagi...	OMIM:615273
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormo...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormo...	ORPHA:363958
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Respiratory distress, Anorexia, Tachypnea, Thrombocytopenia	ORPHA:79242
Microvillus Inclusion Disease	Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea	ORPHA:2290
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Premature loss of teeth, Oral leukoplakia	OMIM:127550
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Cryptorchidism, Abnormal heart morphology, Hip dysplasia...	ORPHA:494344
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Rodrigues Blindness	Tooth malposition, Nasal flaring, Protruding ear	OMIM:268320
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Myocardial sarcomeric disarray, Cerebral hemorrhage, Myofiber disarray, ...	OMIM:619897
Senior-Loken Syndrome 9	Hypogonadism, Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Afibrinogenemia, Congenital	Death in infancy, Epidural hemorrhage, Splenic rupture, Subdural hemorrhage, Death in adolescence...	OMIM:202400
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia...	OMIM:616682
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Reye syndrome-like episo...	ORPHA:348
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Abdominal pain, Abdominal distention, Thrombocytopenia, Ab...	ORPHA:2330
Lymphatic Malformation 7	Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Anemia	OMIM:617300
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Peters Plus Syndrome	Micromelia, Short neck, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein morpholog...	ORPHA:709
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti...	ORPHA:330021
Jacobsen Syndrome	Ventricular septal defect, Short neck, Micrognathia, Pyloric stenosis, Cryptorchidism, Hydrocepha...	OMIM:147791
Primary Biliary Cholangitis	Celiac disease, Abdominal distention, Abnormality of the thyroid gland, Gastrointestinal inflamma...	ORPHA:186
Cardiomyopathy, Dilated, 1S	Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio...	OMIM:613426
Donnai-Barrow Syndrome	Umbilical hernia, Ventricular septal defect, Intestinal malrotation	ORPHA:2143
Ataxia-Telangiectasia	Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplas...	OMIM:208900
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Phace Syndrome	Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root...	ORPHA:42775
Opitz Gbbb Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cleft upper lip, Rectourethral fistula, Cryp...	OMIM:300000
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Pulmonary arteriovenous malformation, Cerebral arteriovenous...	OMIM:175050
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Ventricular septal defect, Micrognathia, Nephrogenic diabetes insipidus, Hip dy...	OMIM:208085
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Craniosynostos...	OMIM:250410
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Abdominal distention, Hemivertebrae, Supernumerary vertebrae, ...	OMIM:271520
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus, ...	OMIM:217100
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Micromelia	ORPHA:2772
Lymphatic Malformation 13	Patent ductus arteriosus, Hydrocele testis, Neonatal death, Long philtrum, Atrial septal defect, ...	OMIM:620244
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Ankle flexion contracture, Tapered finger, Cryptorchidism, Patent duct...	ORPHA:464311
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Megaloblastic anemia, Pulmonary embolism, Thrombocytopenia, Feeding difficu...	ORPHA:79282
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Gitelman Syndrome	Respiratory distress, Maternal diabetes, Iron deficiency anemia, Hashimoto thyroiditis, Abdominal...	ORPHA:358
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea, Hyperactive renin-angiotensin system, Hyperaldosteronis...	OMIM:214700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Hypoperistalsis	OMIM:619365
Ulnar-Mammary Syndrome	Subglottic stenosis, Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia,...	OMIM:181450
Pontocerebellar Hypoplasia, Type 8	Tented upper lip vermilion, Ventricular septal defect, Talipes equinovarus, Scoliosis, Talipes va...	OMIM:614961
Currarino Syndrome	Anal stenosis, Hemisacrum, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, ...	OMIM:176450
Trichohepatoenteric Syndrome 1	Villous atrophy, Ventricular septal defect, Increased mean platelet volume, Avascular necrosis of...	OMIM:222470
Fanconi Anemia, Complementation Group N	Aplastic anemia, Short thumb, Ventricular septal defect, Short neck	OMIM:610832
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Everted lower lip vermilion, Short finger	OMIM:242500
Metachromatic Leukodystrophy, Adult Form	Abdominal distention, Bilateral sensorineural hearing impairment, Bowel incontinence, Neoplasm of...	ORPHA:309271
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Fulminant hepatitis, Odynophagia, Diarrhea, ...	ORPHA:319213
Costello Syndrome	Hyperextensibility of the finger joints, Redundant neck skin, Ventricular septal defect, Limited ...	OMIM:218040
Coccidioidomycosis	Respiratory distress, Eosinophilia, Pneumonia, Abnormality of the endocrine system, Abnormality o...	ORPHA:228123
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Kyphoscoliosis, Micrognathia, Hyperlordosis, Patent foramen ovale, Hyd...	ORPHA:363700
Cocaine Intoxication	Respiratory distress, Abdominal pain, Intestinal perforation, Wheezing, Rhabdomyolysis, Tachypnea...	ORPHA:90068
Multifocal Atrial Tachycardia	Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec...	ORPHA:3282
Fanconi-Bickel Syndrome	Abdominal distention, Poor appetite, Malabsorption	OMIM:227810
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Abdominal distention, Episodic abdominal pain, N...	ORPHA:100086
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Cleft palate, Death in childhood, Limb undergrowth, ...	OMIM:619124
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Leukopenia, Vomiting, Neutropenia, Thrombocytopenia	OMIM:251000
Inhalational Anthrax	Respiratory distress, Dyspnea, Vomiting, Abnormal sweat gland morphology	ORPHA:247257
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Diarrhea, Rhabdomyolysis, Hepatic g...	ORPHA:533
Alagille Syndrome 1	Hypoplasia of the ulna, Ventricular septal defect, Butterfly vertebral arch, Hemivertebrae, Coarc...	OMIM:118450
Hereditary Fructose Intolerance	Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ...	ORPHA:469
Microphthalmia, Syndromic 3	Vertebral fusion, Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadotropic hypo...	OMIM:206900
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention, Bilateral sensorineural hearing impairment	ORPHA:309256
Toxic Epidermal Necrolysis	Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Respiratory distress, Ab...	ORPHA:537
Bardet-Biedl Syndrome 6	Syndactyly, Diabetes mellitus, Postaxial polydactyly	OMIM:605231
Pmm2-Cdg	Mandibular prognathia, Respiratory distress, Multiple joint contractures, Elevated circulating th...	ORPHA:79318
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Ventricular septal defect, Single transverse palmar crease, Tapered finger, Carious te...	OMIM:619522
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Abdominal distention, Microcolon	OMIM:619362
Congenital Gerbode Defect	Ventricular septal defect, Ankle swelling, Right atrial enlargement, Perimembranous ventricular s...	ORPHA:99095
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect, Postaxial polydactyly, Vascular dilatation	OMIM:219730
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Leukopenia,...	ORPHA:292
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia, Limb hypertonia	OMIM:620306
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Sensorin...	OMIM:619351
Aprosencephaly And Cerebellar Dysgenesis	Talipes equinovarus, Bifid uvula, Micrognathia	OMIM:601374
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death	OMIM:620203
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Pseudohypoparathyroidism, Type Ii	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism	OMIM:203330
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Cryptorchidism, Death in childhood, Long philtrum, Neonatal death, Umbilical h...	OMIM:614052
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Micrognathia, Hydrocele testis, Narrow mouth, Neonatal death, Hypertrophic cardiomyopathy	OMIM:618810
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Abnormal lymph node morphology, Vomiting, Pancrea...	ORPHA:677
Joubert Syndrome 39	Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p...	OMIM:619562
Pseudohypoparathyroidism Type 2	Calcinosis, Elevated circulating parathyroid hormone level, Abdominal symptom, Pseudohypoparathyr...	ORPHA:94090
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Feeding difficulties, Macroglossia, Myopathy, Pleural effusion	OMIM:261740
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Abdominal distention, Vertigo, Whe...	ORPHA:97214
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Abdominal distention, Hepatic failure, Death in infancy	OMIM:617156
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Bilateral sensorineural hearing impairment	ORPHA:309263
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Pneumonia, Mediastinal lymphadenopathy, Dyspnea, Pleural...	ORPHA:1546
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Colitis, Steatorrhea	ORPHA:309031
Glycogen Storage Disease Ia	Decreased muscle mass, Gout, Protuberant abdomen, Delayed puberty, Intermittent diarrhea	OMIM:232200
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation, Myelopathy, Sensorineural hearing impairment, Limb...	ORPHA:79241
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, High, narrow palate, Hydrocephalus, Short philtrum, Peripheral pulmona...	OMIM:619575
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious...	ORPHA:438213
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate, Long philtrum, Open mouth	OMIM:618798
Senior-Loken Syndrome 8	Pancreatic cysts, Polydactyly, Vascular dilatation	OMIM:616307
Maternal Uniparental Disomy Of Chromosome 2	Miscarriage, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Pre...	ORPHA:96179
Generalized Arterial Calcification Of Infancy	Respiratory distress, Abnormality of the knee, Stapes ankylosis, Calcification of the auricular c...	ORPHA:51608
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Camptodactyly of finger, Abnormal dental enamel morphology, Cheilitis	ORPHA:2273
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Ventricular septal defect, Single transverse palmar crease	ORPHA:79243
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Diets-Jongmans Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Wide mouth, Interrupted infe...	OMIM:618846
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Pancytopenia, Feeding difficulties in infancy, Anemia, Vomiting, Neutropeni...	OMIM:251110
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi...	OMIM:618775
Alström Syndrome	Respiratory distress, Abnormality of dental color, Thoracic scoliosis, Decreased response to grow...	ORPHA:64
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Feeding difficultie...	OMIM:618426
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Early onset of sexual maturation, Atrial septal defect, M...	OMIM:194050
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, Short neck, Cryptorchidism, Deep palmar crease, High palate, Pulmonic ...	OMIM:607721
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect, Micrognathia	OMIM:607598
Nocardiosis	Respiratory distress, Pneumonia, Anorexia, Productive cough, Lymphadenitis, Nonproductive cough, ...	ORPHA:31204
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren...	ORPHA:369929
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Absent thumb, Absent rad...	OMIM:227645
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Q Fever	Respiratory distress, Pneumonia, Anorexia, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Hepat...	ORPHA:781
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Pancytopenia, Feeding difficulties in infancy, Anemia, Vomiting, Neutropeni...	OMIM:251100
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Abdominal pain, Hematemesis, Thrombocytopenia, Diarrh...	ORPHA:340
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Peripheral pulmonary artery stenosis, Long philtrum	OMIM:123700
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Ventricular septal defect, Increased overbite	OMIM:618504
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Death in infancy, Ventricular septal defect, Nephrogenic diabetes insipidus, Hip dysplasia, Right...	OMIM:613404
Serkal Syndrome	Ventricular septal defect, Malrotation of small bowel, Orofacial cleft, Abnormality of the adrena...	ORPHA:139466
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Short philtrum, High...	OMIM:619475
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange...	OMIM:615550
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Cerebral hemorrhage, Dilated cardiomyopathy, Neonatal death, Left ventricular d...	OMIM:620300
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Patent ductus arteriosus, Agenesis ...	ORPHA:141099
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, Asthma, 2-3 toe synd...	OMIM:619471
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Hypogonadism	OMIM:615989
Donnai-Barrow Syndrome	Short sternum, Umbilical hernia, Ventricular septal defect, Intestinal malrotation	OMIM:222448
Ethylene Glycol Poisoning	Gastritis, Facial palsy, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distres...	ORPHA:31826
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Myopathy, Dyspnea	OMIM:115197
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Increased serum...	OMIM:618901
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Feeding difficulties...	ORPHA:1329
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Genu valgum, Wide...	OMIM:617798
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Sensorineural hearing impairment, Ragged-red muscle fibers, Episodic respiratory ...	ORPHA:255210
Colchicine Poisoning	Respiratory distress, Leukocytosis, Diarrhea, Cardiorespiratory arrest, Vomiting, Nausea	ORPHA:31824
Legius Syndrome	Acute monocytic leukemia, Ovarian neoplasm, Diaphyseal dysplasia, Vestibular schwannoma, Polydact...	ORPHA:137605
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Congenital hypoparathyroidism, Parathyroid agenesis	ORPHA:2239
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect, Hypothyroidism	OMIM:619908
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Toe clinodactyly, Ventricular septal defect, San...	OMIM:620330
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal death, Death in infancy, Clubbing, Misalignment of the pulmonary veins	OMIM:265120
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Accessory spleen, Ventricular septal defect, Splenomegaly, Lymphadenopathy, Hi...	OMIM:619418
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Ventricular septal defect, Bowing of the legs, Mitral valve prolapse, Macr...	OMIM:617107
Tuberous Sclerosis Complex	Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Res...	ORPHA:805
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Death in infancy, Patent ductus arteriosus, Neutropenia	OMIM:617248
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Cleft palate, Parathyroid hypoplasia, Progressive sensorin...	ORPHA:2237
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Aplasia of the ulna, Hand oligodactyly, Endocardial fibroelastosis	OMIM:276822
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, L...	OMIM:619306
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Precocious puberty, Cleft palate, Broad finger, Short finger, Umbilica...	ORPHA:1934
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombo...	OMIM:274150
Craniotubular Dysplasia, Ikegawa Type	Short palm, Metaphyseal dysplasia, Ventricular septal defect, Thick lower lip vermilion, Broad is...	OMIM:619727
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Hypophosphatemic Rickets And Hyperparathyroidism	Parathyroid hyperplasia, Hyperparathyroidism, Elevated circulating parathyroid hormone level	OMIM:612089
Johanson-Blizzard Syndrome	Downturned corners of mouth, Hypoplasia of the primary teeth, Long philtrum, Agenesis of permanen...	OMIM:243800
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Leptospirosis	Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Diarrhea, Rhabdomyolysis, Ly...	ORPHA:509
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula...	OMIM:615474
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Polycystic ovaries, Stroke-...	ORPHA:137675
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Aganglionic megacolon, Cryptorchidism, Postaxial hand polydactyly, Hip dislocat...	OMIM:308205
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, High palate, Talipes equinovarus, Hand clenching, Open mouth	OMIM:614653
Atresia Of Urethra	Abdominal distention, Patent urachus	ORPHA:105
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Narrow mouth, Macrotia	OMIM:614748
Leigh Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Anemia, Neutropenia	ORPHA:506
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platysp...	OMIM:259770
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Single transverse palmar crease, Ventricular septal hypertrophy, Small...	OMIM:614947
Sacral Agenesis With Vertebral Anomalies	Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Anal atresia, Persistent cloaca	OMIM:615709
Renal Agenesis	Ventricular septal defect, Talipes equinovarus, Anal atresia	ORPHA:411709
Penile Agenesis	Ventricular septal defect, Maternal diabetes, Rectal fistula, Cryptorchidism, Tracheoesophageal f...	ORPHA:49

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pax9

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pax9.

No publications found that use IMPC mice or data for Pax9.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pax9^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Pax9^{tm271890(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us