Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Cleft lip,... |
OMIM:301022 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Accessory oral frenulum, Hypoplasia of the maxilla, Micrognathia, Overfolded helix... |
ORPHA:79113 |
Branchiootic Syndrome |
|
Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the inner e... |
ORPHA:52429 |
Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Myelomeningocele, Non-m... |
ORPHA:1752 |
Symphalangism, Proximal, 1A |
|
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Proximal ... |
OMIM:185800 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Ear pain, Cranial nerve compression, Schwannoma, Odynophagia, Malnutri... |
ORPHA:221098 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Sensorineural hearing impairment, Short phi... |
ORPHA:3241 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency,... |
OMIM:614701 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus... |
OMIM:252100 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metacarp... |
OMIM:311895 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Fused... |
OMIM:184460 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Holoprosence... |
ORPHA:83463 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Encephalocele, Camptodactyly of finger, Hypoplasia of the maxi... |
ORPHA:391474 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hearing impairment, Hamartoma ... |
OMIM:174300 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Microretrognathia, Hamartoma of tongue, Cleft lip, Bifid tongue, Clef... |
OMIM:616300 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic... |
OMIM:614669 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... |
OMIM:620045 |
Bilateral Polymicrogyria |
|
Micrognathia, Sensorineural hearing impairment, Feeding difficulties, Wide mouth, Facial diplegia... |
ORPHA:268940 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Bifid tongue, Cleft palate, ... |
ORPHA:2167 |
Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Abnormality of the middle ear ossicles, Trismus, Sensorineural hearing ... |
OMIM:609166 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Chiari type I malformation, Anteriorly placed anus, Sho... |
ORPHA:798 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hearing impairment, Hamartoma of tongue, Carious teeth, Clef... |
OMIM:311200 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Non-midline cleft lip, Abnormality of the inner ear, Sens... |
ORPHA:2549 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Dental crowding, ... |
OMIM:268310 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Cleft palate, Micrognathia |
ORPHA:2015 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atresia of the external ... |
ORPHA:3236 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... |
ORPHA:352665 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Micrognathia, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Nasal regurgitation, Facial palsy, Dysphagia |
OMIM:617732 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Occipital encephalocele, Natal tooth, Cerebellar vermis hypoplasia, Posteriorl... |
OMIM:615948 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Feeding difficult... |
ORPHA:199306 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Au-Kline Syndrome |
|
Sensorineural hearing impairment, Lipomyelomeningocele, Dental malocclusion, Bifid tongue, Cleft ... |
OMIM:616580 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology, Hearing impairment |
ORPHA:2291 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, High palate, Low-set ears |
OMIM:608363 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Submucous cleft soft palate, Un... |
ORPHA:2751 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment |
OMIM:251800 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Tongue atrophy, Prolon... |
OMIM:601596 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup... |
OMIM:602483 |
Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Cleft palate, Glossopto... |
ORPHA:1388 |
Weaver-Williams Syndrome |
|
Protruding ear, Cleft palate, Narrow mouth |
ORPHA:3448 |
Tick-Borne Encephalitis |
|
Facial palsy, Hearing impairment, Anorexia, Nausea, Vertigo, Abnormal glossopharyngeal nerve morp... |
ORPHA:297 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perm... |
OMIM:616894 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic... |
ORPHA:949 |
Auriculocondylar Syndrome 3 |
|
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... |
OMIM:615706 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Holoprosencephaly, Aplasia/Hypoplasia of the cereb... |
ORPHA:818 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Furrowed tongue |
OMIM:155900 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the external audit... |
OMIM:612290 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl... |
OMIM:216300 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... |
ORPHA:199302 |
Robinow Syndrome |
|
Mixed hearing impairment, Posteriorly rotated ears, Dental crowding, Persistence of primary teeth... |
ORPHA:97360 |
Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Thin upper lip vermilion, Stapes ankylosis, Proximal/middle symphalangism of 5... |
OMIM:186500 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking... |
ORPHA:320401 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Glossoptosis, Long ... |
ORPHA:166100 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Low-set ears, Arthrogryposis multiplex congenita, Cleft palate, Micrognathia |
OMIM:616570 |
Autosomal Dominant Robinow Syndrome |
|
Median cleft lip and palate, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Ope... |
ORPHA:3107 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Dental crowding, Abnormality of the middle ear ossicles, Micrognathia, ... |
ORPHA:2789 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Overfolded helix, Submucous cleft hard palate, Feeding difficulties |
ORPHA:209908 |
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome |
|
Limb joint contracture, Abnormal pinna morphology, Ankle flexion contracture, Elbow flexion contr... |
ORPHA:280384 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Trismus, Cleft p... |
ORPHA:916 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal |
OMIM:221320 |
Abruzzo-Erickson Syndrome |
|
Hearing impairment, Macrotia, Cleft palate, Protruding ear |
OMIM:302905 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Micrognathia, Feeding diffi... |
OMIM:611890 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166220 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Uplifted earlobe, Feeding difficulties in infancy, Esophageal atresia, Downtur... |
OMIM:618779 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Posteriorly rotated ears, Micrognathia, High palate, Prenatal death, Low... |
OMIM:618393 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, High, narrow palate, Velopha... |
OMIM:619941 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Microtia, Cleft palate |
OMIM:243440 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Posteriorly rotated ears, Dental crowding, Abnormality of the middle ear o... |
OMIM:130720 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi... |
OMIM:613717 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Death in infancy, Anal stenosis, Dental crowdin... |
ORPHA:2052 |
Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Stapes ankylosis, Papilledema, Mandibular prognathia, Dental crowding,... |
OMIM:614188 |
X-Linked Intellectual Disability, Abidi Type |
|
Hearing impairment, Non-midline cleft lip, Cleft palate, Protruding ear |
ORPHA:85273 |
Orofaciodigital Syndrome Xix |
|
Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ear, Additio... |
OMIM:620107 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve, Nasogas... |
ORPHA:90117 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Posteriorly rotated ears, Cleft lip, Cleft palate, Short philtrum, Ev... |
OMIM:616898 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Dilated fourth ventricle, Microretrognathia, Accessory oral fr... |
ORPHA:434179 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Abnormality of the denti... |
ORPHA:1596 |
Microtia-Anotia |
|
Holoprosencephaly, Anotia, Microtia |
OMIM:600674 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Micrognathia, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Long philtrum, ... |
OMIM:618761 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... |
OMIM:246560 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Gingival overgrowth, Cleft palate, Protruding ear, Macrotia |
ORPHA:2013 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Myopathy, High palate, Dysphagia... |
OMIM:201550 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Microtia, Short mandibular rami |
OMIM:141300 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Sensorineural hearing im... |
OMIM:158900 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Temporomandibular joint ankylosis, Cleft palate, Micrognathia |
ORPHA:141152 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166200 |
Treacher Collins Syndrome 4 |
|
Conductive hearing impairment, Cleft palate, Micrognathia |
OMIM:618939 |
Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Hearing abnormality, Schwannoma, Vertigo, Peripheral schwanno... |
ORPHA:252164 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Acetabular spurs, Bif... |
OMIM:613091 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Cleft palate, Thin vermilion border, ... |
ORPHA:2631 |
Fetal Akinesia Deformation Sequence 2 |
|
Tented upper lip vermilion, Micrognathia, Flexion contracture, Cleft palate, High palate, Low-set... |
OMIM:618388 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... |
OMIM:248390 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Cleft lip, Abnormal earlobe morphology, Cleft palate, Downturned corners o... |
ORPHA:217017 |
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome |
|
Atresia of the external auditory canal, Hearing impairment |
ORPHA:3023 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Overfolded helix, Th... |
OMIM:617412 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Toriello-Carey Syndrome |
|
Abnormal pinna morphology, Aganglionic megacolon, Aplasia/Hypoplasia of the cerebellum, Micrognat... |
ORPHA:3338 |
Deafness, X-Linked 7 |
|
Stenosis of the external auditory canal, Posteriorly rotated ears, Atresia of the external audito... |
OMIM:301018 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment |
OMIM:601369 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud... |
OMIM:113650 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Orofacial Cleft 13 |
|
Oligodontia, Retrognathia, Cleft soft palate, Micrognathia |
OMIM:613857 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Retrogna... |
OMIM:619981 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Otosclerosis, Papilledema, Hyperactivity, Impulsivity, Aggressive be... |
ORPHA:580 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Thin upper lip vermilion, Micrognathia, Aggressive behavior, Microtia, Recurrent ot... |
ORPHA:529962 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Abnormality of the ear, Cleft palate, Micrognathia |
OMIM:183700 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Midline notch of upper alveolar ridge, Lobulated tongue, Low-set ea... |
OMIM:617127 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, Cleft soft palate, Micrognat... |
OMIM:616331 |
Amyotrophy, Hereditary Neuralgic |
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Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Cleft palate, Brach... |
OMIM:162100 |
Otofaciocervical Syndrome |
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Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive... |
ORPHA:2792 |
Lambotte Syndrome |
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Macrotia, Atresia of the external auditory canal, Semilobar holoprosencephaly |
OMIM:245552 |
Usher Syndrome Type 1 |
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Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea morphology,... |
ORPHA:231169 |
Teebi Hypertelorism Syndrome 2 |
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Delayed eruption of teeth, Thin upper lip vermilion, Wide anterior fontanel, Cleft palate, Everte... |
OMIM:619736 |
Whistling Face Syndrome, Recessive Form |
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Shoulder flexion contracture, Micrognathia, Whistling appearance, Narrow mouth, Trismus, Elbow fl... |
OMIM:277720 |
Chand Syndrome |
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Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Omphalocele-Cleft Palate Syndrome, Lethal |
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Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Congenital sensorineural hearing impairment, Elevated circulating creatinine concentration, Hypog... |
OMIM:617872 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Delayed eruption of teeth, Posteriorly rotated ears, Facial palsy, Micrognathia, High, narrow pal... |
ORPHA:2780 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Abnormal pinna morphology, Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Condu... |
OMIM:214300 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
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Atresia of the external auditory canal |
OMIM:209770 |
Crouzon Syndrome |
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Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Narrow palate, Chiari malformation, Cere... |
ORPHA:207 |
Viss Syndrome |
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Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Micr... |
OMIM:619472 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
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Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly, Conductive he... |
OMIM:608257 |
Trehalase Deficiency |
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Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
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Low-set, posteriorly rotated ears, Micrognathia, Furrowed tongue, Abnormal antihelix morphology, ... |
ORPHA:1387 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
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Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Pierre-Robin sequence, Glossopt... |
OMIM:613604 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
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Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... |
ORPHA:2521 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Low-set, posteriorly rotated ears, Holoprosencephaly, Narrow mouth, Aplasia/Hypoplasia of the cer... |
ORPHA:990 |
Diprosopus |
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External ear malformation, Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
Opticocochleodentate Degeneration |
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Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
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Glossoptosis, Death in infancy |
OMIM:614876 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Wide anterior fontanel, Atresia of the external auditory canal |
OMIM:601356 |
Short Stature And Facioauriculothoracic Malformations |
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Cleft upper lip, Cupped ear, Cleft palate, Microtia, High palate, Low-set ears, Overfolded helix |
OMIM:609654 |
Genitopalatocardiac Syndrome |
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Low-set ears, Micrognathia, Cleft palate, Cleft upper lip |
OMIM:231060 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Dilated fourth ventricle, Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue... |
OMIM:613443 |
Robinow Syndrome, Autosomal Recessive 2 |
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Posteriorly rotated ears, Cleft soft palate, Abnormality of the dentition, Micrognathia, Gingival... |
OMIM:618529 |
Amish Lethal Microcephaly |
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Death in infancy, Cleft soft palate, Micrognathia, Optic atrophy, Feeding difficulties |
ORPHA:99742 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... |
ORPHA:1215 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
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Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
Neuropathy, Congenital Hypomyelinating, 3 |
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Decreased motor nerve conduction velocity, Micrognathia, Gingival overgrowth, Narrow palate, Faci... |
OMIM:618186 |
Oculoauriculofrontonasal Syndrome |
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Micrognathia, Cleft lip, Cleft palate, Microtia, Narrow mouth, Conductive hearing impairment, Bro... |
ORPHA:398156 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
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Oligodontia of primary teeth, Bilateral conductive hearing impairment, Atresia of the external au... |
ORPHA:2010 |
Coxoauricular Syndrome |
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Microtia, Atresia of the external auditory canal, Hearing impairment |
ORPHA:1508 |
Hypoglossia With Situs Inversus |
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Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia |
OMIM:612776 |
Hydrolethalus |
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Low-set, posteriorly rotated ears, Micrognathia, Hydrocephalus, Submucous cleft hard palate, Anen... |
ORPHA:2189 |
Postaxial Acrofacial Dysostosis |
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Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Non-midline cleft lip, ... |
ORPHA:246 |
Trisomy 8P |
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Multiple joint contractures, Posteriorly rotated ears, Hydrocephalus, Malrotation of small bowel,... |
ORPHA:264450 |
Agnathia-Otocephaly Complex |
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Micrognathia, Aglossia, Cleft palate, Holoprosencephaly, Low-set ears, Narrow mouth, Conductive h... |
OMIM:202650 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, Conductive hearing ... |
OMIM:300946 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
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Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... |
OMIM:601455 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
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Micrognathia, Cleft upper lip, Cleft palate, Small thenar eminence, Microtia, Atresia of the exte... |
OMIM:239800 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
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Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
ORPHA:2213 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
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Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:133705 |
Say Syndrome |
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Macrotia, Cleft palate, Micrognathia |
OMIM:181180 |
Isotretinoin-Like Syndrome |
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Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microtia,... |
ORPHA:2306 |
Buratti-Harel Syndrome |
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Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, Microtia, Hi... |
OMIM:619314 |
Isotretinoin Syndrome |
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Microtia, Abnormality of the outer ear, Cleft palate, Micrognathia |
ORPHA:2305 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
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Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Shor... |
ORPHA:293725 |
Hamel Cerebro-Palato-Cardiac Syndrome |
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Cupped ear, Micrognathia, Cleft palate, Narrow mouth |
ORPHA:93946 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
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Abnormal autonomic nervous system physiology, Aganglionic megacolon, Atresia of the external audi... |
OMIM:243180 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
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Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
Mucopolysaccharidosis, Type Ix |
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Recurrent otitis media, Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
Burn-Mckeown Syndrome |
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Mandibular prognathia, Cleft upper lip, Micrognathia, Cleft palate, Protruding ear, Hypomimic fac... |
OMIM:608572 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Microretrognathia, Low-set, posteriorly rotated ears, Tarsal synostosis, Abnormality of the wrist... |
ORPHA:1307 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
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Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Oculofaciocardiodental Syndrome |
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Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Feeding difficul... |
ORPHA:2712 |
Cerebral Creatine Deficiency Syndrome 2 |
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Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia |
OMIM:612736 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
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Furrowed tongue |
OMIM:165150 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
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Hearing impairment, Cleft palate, Cleft upper lip |
OMIM:120433 |
Renal Failure, Progressive, With Hypertension |
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Elevated circulating creatinine concentration |
OMIM:161900 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
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Dental crowding, Posteriorly rotated ears, Protruding tongue, Submucous cleft hard palate, Feedin... |
OMIM:618106 |
Mucopolysaccharidosis Type 3 |
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Flexion contracture, Otitis media, Thickened helices, Conductive hearing impairment, Chronic otit... |
ORPHA:581 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
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Intestinal malrotation, Abdominal distention, Optic disc coloboma, Secretory diarrhea, Cleft pala... |
OMIM:270420 |
Microcephaly 30, Primary, Autosomal Recessive |
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Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate, Uplifted earlobe |
OMIM:620183 |
Larsen-Like Syndrome |
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Wide anterior fontanel, Dental malocclusion, Cleft palate, Recurrent otitis media, Low-set ears, ... |
OMIM:608545 |
8Q22.1 Microdeletion Syndrome |
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Underfolded helix, Abnormal pinna morphology, Abnormality of the dentition, Hypoplasia of the max... |
ORPHA:178303 |
Schilbach-Rott Syndrome |
|
Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Microtia, Narrow mouth, Bifi... |
OMIM:164220 |
Walker-Warburg Syndrome |
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Skeletal muscle atrophy, Posteriorly rotated ears, Hydrocephalus, Submucous cleft hard palate, Op... |
ORPHA:899 |
Cree Mental Retardation Syndrome |
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Posteriorly rotated ears, Cleft soft palate, Low-set ears, Micrognathia |
OMIM:606851 |
Meckel Syndrome, Type 8 |
|
Low-set ears, Abdominal distention, Cleft palate, Cleft upper lip |
OMIM:613885 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Congenital muscular torticollis, Thin upper lip vermilion, Aggressive behavior, Wide anterior fon... |
ORPHA:457279 |
Usher Syndrome Type 3 |
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Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Small intestinal dysmoti... |
ORPHA:298 |
Spondylometaphyseal Dysplasia, Schmidt Type |
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Cleft soft palate, Micrognathia, Nasogastric tube feeding in infancy, Gastroesophageal reflux, St... |
ORPHA:93316 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
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Mixed hearing impairment, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia... |
OMIM:606164 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
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Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Gl... |
OMIM:620269 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Orofacia... |
ORPHA:268249 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Smooth philtrum, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Post... |
OMIM:611209 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Feeding difficulties in infancy, High palate, Shor... |
OMIM:612292 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Conductive hearing imp... |
ORPHA:1488 |
Myasthenic Syndrome, Congenital, 10 |
|
Weakness of facial musculature, Tongue atrophy, Distal amyotrophy, Proximal amyotrophy |
OMIM:254300 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Fanconi Anemia, Complementation Group L |
|
Micrognathia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Anotia,... |
OMIM:614083 |
Split-Hand/Foot Malformation 1 |
|
Abnormal pinna morphology, Cleft palate, Hearing impairment |
OMIM:183600 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Cranial nerve compression, Vertigo, Abnormality of the v... |
ORPHA:268882 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Darwin tubercle of helix, Thicke... |
OMIM:619122 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Low-set ears, A... |
OMIM:618021 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Vacterl With Hydrocephalus |
|
Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal atresia, Hydr... |
ORPHA:3412 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Papilledema, Abnormal dental morphology, Camptodactyly of finger, Sensorineural hea... |
ORPHA:217085 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Mandibular prognathia, Submucous cleft hard palate, Thick lower lip vermilion... |
OMIM:619103 |
Developmental And Epileptic Encephalopathy 80 |
|
Optic disc pallor, Peripheral axonal neuropathy, Death in infancy, Posteriorly rotated ears, Abno... |
OMIM:618580 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Distal Deletion 10Q |
|
Smooth philtrum, Thin upper lip vermilion, Scapular winging, Micrognathia, Aggressive behavior, C... |
ORPHA:96148 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Papilledema, Abnormal dental morphology, Camptodactyly of finger, Sensorineural hea... |
ORPHA:217093 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Conduc... |
ORPHA:1071 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia |
OMIM:227270 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Sensorineural hearing impairment, Cupped ear, Optic disc coloboma, Cle... |
ORPHA:52055 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Feeding difficulties, Micro... |
OMIM:613805 |
Lethal Kniest-Like Dysplasia |
|
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix, Cleft palate, L... |
ORPHA:2347 |
Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Hypoplas... |
ORPHA:2554 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Protruding ear, Low-set ears, Neonat... |
ORPHA:85284 |
Johnson Neuroectodermal Syndrome |
|
Facial palsy, Protruding ear, Microtia, Atresia of the external auditory canal, Conductive hearin... |
ORPHA:2316 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Inability to walk, Sensorineural hearing impairment, Optic a... |
ORPHA:52368 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Open mouth,... |
ORPHA:3010 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Cleft palate, Lobulated tongue, High ... |
OMIM:258860 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Otosclerosis, Diastasis recti, Congenital diaphragmatic hernia, Rhabdomyos... |
ORPHA:116 |
Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Retrognathia, Cleft palate, Anotia, Microtia, Macrotia |
OMIM:616462 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Micrognathia, Repetitive compulsive behavior, Abnormality of the gin... |
ORPHA:513456 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Sensorineural hearing impairment, Hydrocephalus, Alveolar ridge overgrowth, Cl... |
OMIM:612938 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abn... |
ORPHA:3201 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia, Generalized amyotrophy |
OMIM:616540 |
Verloove Vanhorick-Brubakk Syndrome |
|
Micrognathia, Non-midline cleft lip, Cleft palate, Microtia, Atresia of the external auditory can... |
ORPHA:3429 |
Preeclampsia |
|
Type I diabetes mellitus, Elevated circulating creatinine concentration |
ORPHA:275555 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Mandibular prognathia, Hyperactivity, Restlessness, Facial hypotoni... |
OMIM:300534 |
Native American Myopathy |
|
Micrognathia, Conductive hearing impairment, Cleft palate, Feeding difficulties, Downturned corne... |
ORPHA:168572 |
Solar Urticaria |
|
Vertigo, Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Br... |
OMIM:213300 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Conductive hearing impairment... |
ORPHA:861 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death |
OMIM:619817 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Mandibular prognathia, Smooth philtrum, Posteriorly rotated ears, Protruding ... |
OMIM:617804 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Sensorineural hearing impairment, Cleft palate |
OMIM:612370 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip... |
ORPHA:245 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Posteriorly rotated ears, Cleft soft palate, Micrognathia, Carious teeth, Cleft li... |
OMIM:117650 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Micrognathia, Optic atrophy, Cleft palate... |
OMIM:311900 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Abnormality of the philtrum, Spina bifida, Micrognathia, Trismus, Flexio... |
ORPHA:2671 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Malabsorption, Enamel hypoplasia, Tympanosclerosis, Atrophic gastritis |
OMIM:240300 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Lop ear, Sensorineural hearing impairment, Optic disc coloboma, Cupped ... |
OMIM:300472 |
Acrootoocular Syndrome |
|
Sensorineural hearing impairment, Abnormal earlobe morphology, Pseudopapilledema, Atresia of the ... |
ORPHA:2980 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia |
OMIM:614526 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, M... |
OMIM:300990 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Accessory oral frenulum, Micrognathia, Cl... |
OMIM:277170 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Torticollis, Posteriorly rotated ears, Aggressive behavior, Submucous c... |
OMIM:619680 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Micrognathia... |
ORPHA:1452 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Hearing impairment, A... |
OMIM:211530 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Abnormal... |
ORPHA:2759 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Low-set e... |
OMIM:608104 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Hydrocephalus, Cupped ear, Submucous cleft hard pa... |
OMIM:612863 |
Dubowitz Syndrome |
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Low-set, posteriorly rotated ears, Delayed eruption of teeth, Anal stenosis, Micrognathia, Abnorm... |
ORPHA:235 |
Interstitial Nephritis, Karyomegalic |
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Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Sweeney-Cox Syndrome |
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Uplifted earlobe, Micrognathia, Wide anterior fontanel, Narrow mouth, Cupped ear, Velopharyngeal ... |
OMIM:617746 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
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Posteriorly rotated ears, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Cleft pal... |
OMIM:607597 |
Congenital Disorder Of Glycosylation, Type Iia |
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Mandibular prognathia, Posteriorly rotated ears, Macrodontia, Aggressive behavior, Diastema, Prot... |
OMIM:212066 |
Raine Syndrome |
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Mandibular prognathia, Natal tooth, Mixed hearing impairment, Death in infancy, Abnormal pinna mo... |
OMIM:259775 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Hyperactivity, Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Athyreosis |
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Macroglossia, Constipation, Abdominal distention, Feeding difficulties |
ORPHA:95713 |
Arthrogryposis, Distal, Type 5D |
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Tongue atrophy, Decreased muscle mass, Congenital hip dislocation, Limited elbow movement, Microg... |
OMIM:615065 |
Holoprosencephaly 13, X-Linked |
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Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Micrognathia... |
OMIM:301043 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
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Tongue atrophy, Impulsivity, Optic atrophy, Compulsive behaviors, Dysphagia, Violent behavior |
ORPHA:216873 |
Cerebrocostomandibular Syndrome |
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Death in infancy, Hydranencephaly, Spina bifida, Micrognathia, Myelomeningocele, Meningocele, Cle... |
ORPHA:1393 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Conductive hearing impairment, Micrognathia, Cleft palate, Cleft upper lip |
OMIM:601076 |
Cardiofaciocutaneous Syndrome 1 |
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Micrognathia, Feeding difficulties in infancy, Deep philtrum, High palate, Vomiting, Gastroesopha... |
OMIM:115150 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Posteriorl... |
OMIM:608670 |
Hemifacial Hyperplasia With Strabismus |
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Submucous cleft hard palate |
OMIM:141350 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Esophageal atresia, Submucous cleft hard palate, Retrognathia, Tracheoesophageal fistula, Attenti... |
OMIM:619227 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Cleft hard palate, Micrognathia |
ORPHA:166016 |
Loeys-Dietz Syndrome 5 |
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Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... |
OMIM:615582 |
Crouzon Syndrome |
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Conductive hearing impairment, Hydrocephalus, Optic atrophy, Atresia of the external auditory canal |
OMIM:123500 |
Clark-Baraitser syndrome |
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Exaggerated median tongue furrow, Genu recurvatum, Thick lower lip vermilion, Genu valgum, Promin... |
OMIM:300602 |
Charcot-Marie-Tooth Disease Type 1F |
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Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Scapular wingi... |
ORPHA:101085 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Stickler Syndrome, Type I |
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Micrognathia, Sensorineural hearing impairment, Submucous cleft hard palate, Pierre-Robin sequenc... |
OMIM:108300 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
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Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic h... |
OMIM:620285 |
Desmosterolosis |
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Low-set, posteriorly rotated ears, Intestinal malrotation, Micrognathia, Hydrocephalus, Submucous... |
ORPHA:35107 |
Tetraploidy |
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Hypoplasia of the ear cartilage, Short philtrum, Cleft palate, Micrognathia |
ORPHA:3305 |
Spinocerebellar Ataxia Type 36 |
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Skeletal muscle atrophy, Tongue atrophy, Vertigo, Loss of Purkinje cells in the cerebellar vermis... |
ORPHA:276198 |
Kleefstra Syndrome 1 |
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Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Persistence of primary teeth, Aggr... |
OMIM:610253 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
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Upper limb muscle weakness, Tongue atrophy, Lower limb muscle weakness, Foot dorsiflexor weakness |
OMIM:616155 |
Orofaciodigital Syndrome Type 4 |
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Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, A... |
ORPHA:2753 |
Congenital Sucrase-Isomaltase Deficiency |
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Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Treacher Collins Syndrome 1 |
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Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Microtia, Abnormal parotid gland morph... |
OMIM:154500 |
Monosomy 9P |
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Congenital diaphragmatic hernia, Micrognathia, Abnormality of the dentition, Narrow mouth, Cleft ... |
ORPHA:261112 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
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Facial palsy, Furrowed tongue |
ORPHA:2743 |
Carey-Fineman-Ziter Syndrome 1 |
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Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Micrognathia, Trismus, Sens... |
OMIM:254940 |
Spinocerebellar Ataxia 36 |
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Cerebellar atrophy, Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations, Dysphagia, He... |
OMIM:614153 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
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Cleft soft palate, Micrognathia, Feeding difficulties, Microtia, Submucous cleft soft palate, Hea... |
ORPHA:2282 |
Aase-Smith Syndrome I |
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Open mouth, Flexion contracture, Abnormal pinna morphology, Cleft palate |
OMIM:147800 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, Incomplete part... |
OMIM:617660 |
Thyroid Hemiagenesis |
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Macroglossia, Constipation, Abdominal distention |
ORPHA:95719 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Optic disc pallor, Posteriorly rotated ears, Micrognathia, Protruding tongue, Wide anterior fonta... |
OMIM:214100 |
Fanconi Renotubular Syndrome 3 |
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Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria |
OMIM:615605 |
Familial Visceral Myopathy |
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Low-set, posteriorly rotated ears, Aganglionic megacolon, Micrognathia, Abdominal distention, Cle... |
ORPHA:2604 |
Generalized Arterial Calcification Of Infancy |
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Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Sensorineur... |
ORPHA:51608 |
Down Syndrome |
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Aganglionic megacolon, Microdontia, Protruding tongue, Narrow mouth, Abnormality of the dentition... |
ORPHA:870 |
Volvulus Of Midgut |
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Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Icf Syndrome |
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Communicating hydrocephalus, Micrognathia, Protruding tongue, Malabsorption, Macroglossia, Low-se... |
ORPHA:2268 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Thin upper lip vermilion, Death in infancy, Micrognathia, Abdominal distention, Alveolar ridge ov... |
OMIM:235255 |
Diarrhea 12, With Microvillus Atrophy |
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Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
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Low-set, posteriorly rotated ears, Hearing abnormality, Meningocele, Protruding ear, Glossoptosis |
ORPHA:2031 |
Anophthalmia Plus Syndrome |
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Low-set, posteriorly rotated ears, Non-midline cleft lip, Aplasia/Hypoplasia of the earlobes, Cle... |
ORPHA:1104 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis, Hyperactivity, Hypoplasia of the maxilla, Hypoplasia of the... |
ORPHA:251061 |
Joubert Syndrome 18 |
|
Trident pelvis, Cleft palate, Lobulated tongue, Camptodactyly, Retrognathia |
OMIM:614815 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Hearing impairment |
OMIM:616733 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
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Low-set, posteriorly rotated ears, Umbilical hernia, Microtia, Atresia of the external auditory c... |
ORPHA:1770 |
Double Outlet Right Ventricle |
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Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cl... |
ORPHA:3426 |
Frontonasal Dysplasia 3 |
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Low-set ears, Posteriorly rotated ears, Cleft palate |
OMIM:613456 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
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Micrognathia, High, narrow palate, Cleft palate, Chiari type I malformation, Glossoptosis, Microt... |
ORPHA:436003 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
Hypomandibular Faciocranial Dysostosis |
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Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Low-set ears,... |
ORPHA:1790 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Micrognathia, Carious teeth, Glossoptosis, Delayed ossification of carpal bones, Hearing impairment |
ORPHA:93346 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Fac... |
OMIM:617114 |
Pelvis-Shoulder Dysplasia |
|
Abnormal pinna morphology, Camptodactyly of finger, Spina bifida, Micrognathia, Hydrocephalus, Cl... |
ORPHA:2839 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Narrow ... |
ORPHA:2461 |
Pontocerebellar Hypoplasia, Type 1B |
|
Skeletal muscle atrophy, Tongue atrophy, Flexion contracture, Hip dislocation, Tongue fasciculations |
OMIM:614678 |
Gorham-Stout Disease |
|
Torticollis, Abnormality of the temporomandibular joint, Chiari type I malformation, Mandibular p... |
ORPHA:73 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Saethre-Chotzen Syndrome |
|
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Hypoplasia ... |
ORPHA:794 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Micrognathia, Hip dislocation, Cleft palate, Microglossia |
OMIM:241800 |
Moebius Syndrome |
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Death in infancy, Skeletal muscle atrophy, Facial palsy, Aplasia/Hypoplasia of the tongue, Microg... |
ORPHA:570 |
Marshall-Smith Syndrome |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Cerebellar hypoplasia, Conductive hearing ... |
ORPHA:561 |
Platyspondylic Dysplasia, Torrance Type |
|
Low-set ears, Abdominal distention, Cleft palate |
ORPHA:85166 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Coronal craniosynostosis |
OMIM:241310 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
16P13.11 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Self-injurious behavior, Holoprosencephaly, Compulsive behavior... |
ORPHA:261236 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal pinna morphology, Camptodactyly of finger, Micrognathia, Myelomeningocele... |
ORPHA:90652 |
Juvenile Sialidosis Type 2 |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Low-set ears, Dysphagia, Umbilical hernia,... |
ORPHA:93399 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit... |
ORPHA:2752 |
Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Hamartoma of tongue, Micrognathi... |
ORPHA:2754 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Abnormality of the dentition, High, narrow palate, Aplasia/Hyp... |
ORPHA:1642 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Feeding difficulties in infancy, Velophar... |
OMIM:223370 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... |
ORPHA:92050 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Submucous cleft hard palate, High palate, Optic nerve hypoplasia, Micrognathia |
OMIM:222765 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced teeth, Recurrent otitis media, Microdo... |
ORPHA:2728 |
Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Morgagni diaphragmatic h... |
OMIM:613309 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Camptodactyly of finger, Submucous cleft hard palate, Cleft palate, Knee f... |
OMIM:114300 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... |
OMIM:614557 |
Sialuria |
|
Thin upper lip vermilion, Macroglossia, High palate, Low-set ears, Long philtrum, Protuberant abd... |
OMIM:269921 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Furrowed tongue |
ORPHA:2928 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Folinic Acid-Responsive Seizures |
|
Abdominal distention, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79097 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Micrognathia, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Ana... |
ORPHA:93271 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Ataxia, Abnormal auditory evoked pot... |
ORPHA:99027 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairment, Osteoa... |
ORPHA:1427 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Uplifted earlobe, Cleft palate, Furrowed tongue, High palate, Short p... |
OMIM:616449 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Microtia, Atresia of the external auditory canal, Low-set ears, Conductive hearing impairment, Ov... |
OMIM:610536 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Abnormal pinna morphology, Posteriorly rotated ears, Hamartoma of ... |
OMIM:269860 |
Distal Deletion 12Q |
|
Hyperactivity, Median cleft lip, Micrognathia, Wide anterior fontanel, Prominent ear helix, Super... |
ORPHA:96149 |
Ring Chromosome 22 Syndrome |
|
Protruding tongue, Neurofibroma, Inappropriate behavior, Thick vermilion border, Macrotia |
ORPHA:1446 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Thin upper lip vermilion, Posteriorly rotated ears, Prominent crus of helix, De... |
OMIM:619194 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Hand muscle weakness, Limb-girdle muscle weakness, Upper limb mu... |
ORPHA:466768 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Sensorineural hearing impairment, Cleft palate, Micrognathia |
ORPHA:440354 |
Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Wide anterior fontanel, Narrow mouth, Cleft palate, Stillbirth, Low-se... |
OMIM:228520 |
Orofaciodigital Syndrome Type 10 |
|
Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia |
ORPHA:2756 |
Thalidomide Embryopathy |
|
Anotia, Abnormality of the outer ear, Hearing impairment |
ORPHA:3312 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct, Widely-spaced incisors |
ORPHA:79414 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Orofacial cleft, High palate, Thickened helices, Conductive hearing impairment, Bifid uvula, Self... |
OMIM:607872 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Protruding tongue, Contractures of the large joints, Everted lower lip ver... |
ORPHA:324410 |
Branchiooculofacial Syndrome |
|
Micrognathia, Conductive hearing impairment, Hypoplastic superior helix, Agenesis of cerebellar v... |
OMIM:113620 |
Congenital Sialidosis Type 2 |
|
Protruding tongue, Hydrocephalus, Optic atrophy, Gingival overgrowth, Low-set ears, Umbilical her... |
ORPHA:93400 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Posteriorly rotated ears, Conductive hearing impairment,... |
OMIM:618885 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Marshall-Smith Syndrome |
|
Irregular dentition, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate, Death in ... |
OMIM:602535 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Branchial anomaly, Olig... |
ORPHA:453499 |
Cousin Syndrome |
|
Posteriorly rotated ears, Micrognathia, Hydrocephalus, Microglossia, Alveolar ridge overgrowth, C... |
OMIM:260660 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bowel incontinence, Gastrointestinal dysmotility, Axonal degeneration, Abnormal sensory nerve con... |
ORPHA:88628 |
Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Cleft upper lip, Rectourethral fistula, Wide ... |
OMIM:300000 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia of the maxilla, High, nar... |
ORPHA:193 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, Narrow palate, Hyperplasia o... |
ORPHA:313892 |
Campomelic Dysplasia |
|
Irregular dentition, Spina bifida, Micrognathia, Carious teeth, Wide anterior fontanel, Hydroceph... |
OMIM:114290 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Conductive hearing impairment, Atresia of the external auditory canal, Simple ear |
OMIM:602471 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Abno... |
ORPHA:364577 |
Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cleft palate, Low-set ears, Mic... |
OMIM:603736 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Pierre-Rob... |
ORPHA:1358 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Aggressive behavior, Decreased nerve conduction velocity, Micrognathia, Cleft... |
OMIM:618356 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, EEG abnormality, Gait d... |
ORPHA:206448 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Diastasis recti, Micrognathia, Narrow mouth, Sensorineural hearing ... |
OMIM:618971 |
Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Low-set ears, Choking episodes |
OMIM:620352 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529799 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Feeding difficulties in infancy, Submucous cleft hard palate, ... |
ORPHA:1340 |
Neu-Laxova Syndrome 2 |
|
Micrognathia, Cleft palate, High palate, Low-set ears, Protuberant abdomen |
OMIM:616038 |
Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Micrognathia, Wide anterior fontanel, Flexion contracture, T... |
OMIM:275210 |
Kapur-Toriello Syndrome |
|
Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears |
ORPHA:2328 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Low-set ears |
OMIM:242860 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hypoplasia of facial musculature, Micrognathia, Hypoplasia of the maxill... |
OMIM:164210 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Atresia of the external auditory canal, Low-set ears |
ORPHA:93259 |
Branchioskeletogenital Syndrome |
|
Attached earlobe, Mandibular prognathia, Mixed hearing impairment, Unilateral cleft palate, Abnor... |
ORPHA:1299 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Narrow mouth, Narr... |
OMIM:616078 |
Lead Poisoning |
|
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Vomiting,... |
ORPHA:330015 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the abdominal wa... |
OMIM:612289 |
Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Pierre-Robin sequence, Optic atrophy, Alveolar r... |
ORPHA:2886 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic her... |
ORPHA:958 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Decreased distal sensory nerve action po... |
ORPHA:99956 |
Faciocardiorenal Syndrome |
|
Cleft palate, Protruding ear, Hypodontia, Narrow mouth, Smooth philtrum |
ORPHA:1973 |
Chromosome 18Q Deletion Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Atresia of the external auditory canal, Conducti... |
OMIM:601808 |
Hypoglossia-Hypodactylia |
|
Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating... |
ORPHA:230 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Hearing impairment, Aggressive behavior, Impulsivity, Protruding tongue, Tong... |
OMIM:619580 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Diamond-Blackfan Anemia 11 |
|
Stenosis of the external auditory canal, Atresia of the external auditory canal |
OMIM:614900 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Proximal amyotrophy, Spinocerebellar atrophy, Cochlear degeneration, Hearing impai... |
ORPHA:95433 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma... |
ORPHA:168563 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Abnormal pinna morphology, Hamartoma of tongue, Micrognathia, Esophageal diverticulu... |
OMIM:617925 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
X-Linked Agammaglobulinemia |
|
Chronic otitis media, Glossoptosis, Sensorineural hearing impairment, Malabsorption |
ORPHA:47 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital diaphragmatic hernia, Congenital sensorineural hearing impai... |
OMIM:157800 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Cleft palate, Ging... |
ORPHA:2588 |
Van Maldergem Syndrome 1 |
|
Wide anterior fontanel, Sensorineural hearing impairment, Microtia, Atresia of the external audit... |
OMIM:601390 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Protruding ear, Hypodontia, Submucous cleft soft pala... |
ORPHA:69085 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Micrognathia, Abdominal distention, Alveolar ridge overgrowth, High pal... |
ORPHA:1655 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Cerebellar atrophy, Death in infancy, Skeletal muscle atrophy, Micrognathia, Protruding tongue, S... |
OMIM:608779 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia |
OMIM:616881 |
W Syndrome |
|
Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit |
ORPHA:2804 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Optic atrophy, Gait disturbance, Difficulty walking,... |
ORPHA:90321 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Cleft palate, Stillbirth, Protuberant abdomen, Long philtrum |
OMIM:200610 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal dental enamel morphology, Facial palsy, High, narrow palate, Hydr... |
ORPHA:2658 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Diastema, Sensorineural heari... |
OMIM:301040 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavior, ... |
ORPHA:464738 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Poster... |
OMIM:608836 |
Van Maldergem Syndrome 2 |
|
Wide anterior fontanel, Sensorineural hearing impairment, Microtia, Atresia of the external audit... |
OMIM:615546 |
Zttk Syndrome |
|
Abnormality of the dentition, Feeding difficulties in infancy, Hypoplasia of the maxilla, Submuco... |
OMIM:617140 |
Arthrogryposis, Distal, Type 2A |
|
Short nose, Wide nasal bridge, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Micrognathia, Anteverted ears, Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Peg-... |
OMIM:610706 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Thick vermilion borde... |
ORPHA:250999 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
Opitz Gbbb Syndrome |
|
Natal tooth, Anal atresia, Posteriorly rotated ears, Congenital diaphragmatic hernia, Aplasia/Hyp... |
ORPHA:2745 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Thin upper lip vermilion, Camptodactyly of finger, High, narrow palate, Sensor... |
ORPHA:261330 |
Seckel Syndrome 2 |
|
Microdontia, Microglossia, Micrognathia |
OMIM:606744 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Optic atrop... |
OMIM:236670 |
Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Micrognathia, Celiac... |
OMIM:619325 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Micrognathia, Cleft palate, Protruding ear, High palate, Low-set ears, Narrow mouth, Retrognathia |
OMIM:301091 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, ... |
ORPHA:989 |
Kinsship Syndrome |
|
Mandibular prognathia, Death in infancy, Smooth philtrum, Thin upper lip vermilion, Micrognathia,... |
OMIM:619297 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Micrognathia, Protruding tongue, Cupped ear, Frequent temper tantrums, ... |
OMIM:617062 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Abdominal distention, Macroglossia, Constipation, Protuberant ab... |
ORPHA:226313 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Gingival overgrowth, Low-set ears, Protruding tongue |
OMIM:618797 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration, Wide nasal bridge |
OMIM:614376 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue |
OMIM:614204 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Abnormal pinna morphology, Posteriorly rotated ears, Micrognathia, ... |
OMIM:616975 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Protruding tongue, Long upper lip, Deep philtrum, Pr... |
ORPHA:99843 |
Sickle Cell Anemia |
|
Hypoxemia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Sensorineural hearing impairment, C... |
ORPHA:96129 |
Mulibrey Nanism |
|
Dental crowding, Dental malocclusion, Hypodontia, Microglossia, Enamel hypoplasia |
OMIM:253250 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Abnormality of ... |
OMIM:192430 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of t... |
ORPHA:2457 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... |
ORPHA:769 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... |
ORPHA:2930 |
Ritscher-Schinzel Syndrome 2 |
|
Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Wide anterior fontanel, High ... |
OMIM:300963 |
Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathia, Open ... |
ORPHA:2750 |
Charge Syndrome |
|
Aqueductal stenosis, Hypoplasia of the semicircular canal, Holoprosencephaly, Compulsive behavior... |
ORPHA:138 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis, Elevated circulating creatinine concentration, Elevated circulating C-reacti... |
ORPHA:79126 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Flexion contracture, Knee fl... |
OMIM:619503 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Micrognathia, Lobulated tongue, Molar tooth sign on MRI, Dandy-Walker ma... |
OMIM:249000 |
Giant Cell Arteritis |
|
Anorexia, Vertigo, Optic atrophy, Conductive hearing impairment, Glossitis, Hearing impairment |
ORPHA:397 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Severe sensorineural hearing impairmen... |
OMIM:620186 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Extra concha fold, Micrognathia, Hypoplasia of ... |
OMIM:209885 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Abdominal pain, Celiac disease, Hematemesis, Vertigo, ... |
OMIM:301068 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:106260 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, Microtia, High palate, Low-set ears, Stomati... |
OMIM:277380 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Pyloric stenosis, Supernumerary tooth, Nasogastric tube feeding in infancy, Pr... |
ORPHA:268261 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hydrocephalus, Optic atrophy, Posteriorly rotated ears, Atresia of the external auditory canal |
OMIM:123790 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Pallister-Hall Syndrome |
|
Natal tooth, Posteriorly rotated ears, Cleft upper lip, Cleft palate, Anteriorly placed anus, Mic... |
OMIM:146510 |
Neurofaciodigitorenal Syndrome |
|
External ear malformation, Abnormal tragus morphology, Abnormal antitragus morphology, Atresia of... |
ORPHA:2673 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Microglossia, Narrow mouth |
ORPHA:1972 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Feeding difficulties, Abnorm... |
ORPHA:3047 |
Cowden Syndrome 1 |
|
Colonic diverticula, Dysplastic gangliocytoma of the cerebellum, Micrognathia, Hypoplasia of the ... |
OMIM:158350 |
Donohue Syndrome |
|
Abdominal distention, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Low-set ears, M... |
OMIM:246200 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Micrognathia, External ear malformation, Sensorineural hearing impairmen... |
ORPHA:233 |
Warburg-Cinotti Syndrome |
|
Dental crowding, Posteriorly rotated ears, Ankle flexion contracture, Elbow flexion contracture, ... |
OMIM:618175 |
Diamond-Blackfan Anemia 7 |
|
Recurrent otitis media, Atresia of the external auditory canal, Hearing impairment |
OMIM:612562 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic vomiting, Nausea, Hearing ... |
ORPHA:100924 |
Achondrogenesis Type 1A |
|
Abdominal distention, Micrognathia, Long philtrum |
ORPHA:93299 |
Lelis Syndrome |
|
Carious teeth, Mandibular prognathia, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... |
ORPHA:75233 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Pursed lips, Micrognathia, Carious teeth, Elbow flexion contracture, Dysphagia,... |
OMIM:601559 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
Diamond-Blackfan Anemia |
|
Cleft soft palate, Micrognathia, Cleft lip, Microtia, High palate, Low-set ears, Adenocarcinoma o... |
ORPHA:124 |
Barber-Say Syndrome |
|
Abnormal pinna morphology, Atresia of the external auditory canal, Hearing impairment |
ORPHA:1231 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Elevated circulating creatinine concentration |
ORPHA:90060 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance... |
OMIM:615873 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Facial palsy, Cheilitis, Furrowed tongue |
ORPHA:2483 |
Meckel Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Aplasia/Hypoplasia of the tongue, Micrognathia,... |
ORPHA:564 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... |
ORPHA:3240 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology, Craniosynostosis |
ORPHA:531151 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroparesis, Optic nerve hypoplasia, Gastrostomy tube feeding in infancy, Feeding difficulties ... |
ORPHA:500150 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Micrognathia, Abnormality of the dentition, Sensorineural hearing impairme... |
OMIM:151050 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:610829 |
Atelosteogenesis, Type I |
|
Micrognathia, Cleft palate, Stillbirth, Multinucleated giant chondrocytes in epiphyseal cartilage... |
OMIM:108720 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Micrognathia, Cleft palate, Flat acetabular roof, Genu valgum, Glossoptos... |
ORPHA:94068 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Bosma Arhinia Microphthalmia Syndrome |
|
Abnormal pinna morphology, Absent tragus, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasi... |
OMIM:603457 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Abnormal autonomic nervous syste... |
ORPHA:1051 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Acrocyanosis, Elevated circulating creatinine concentration, Increased b... |
OMIM:223900 |
Bilateral Perisylvian Polymicrogyria |
|
Cerebellar dysplasia, Cerebellar vermis hypoplasia, Hearing impairment, Micrognathia, Protruding ... |
ORPHA:98889 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Posteriorly rotated ears, Asymmetry of the ears, Persistence of primar... |
OMIM:300166 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Optic nerve hypoplasia, Cleft soft palate, Optic atrophy, Downturned corn... |
OMIM:619321 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sensorineural hearing impairment, Elbow flexion contracture, Knee flexion contracture, Furrowed t... |
OMIM:148210 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Pyloric stenosis, Abdominal d... |
OMIM:235730 |
Stickler Syndrome |
|
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... |
ORPHA:828 |
Malignant Peritoneal Mesothelioma |
|
Abdominal distention, Peritonitis, Ileus, Abdominal pain |
ORPHA:168811 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration |
ORPHA:439232 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention |
OMIM:174050 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
46,Xy Sex Reversal 4 |
|
Sensorineural hearing impairment, Microtia, Elevated circulating creatinine concentration, Increa... |
OMIM:154230 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiti... |
ORPHA:100050 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Stillbirth |
OMIM:600972 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue |
ORPHA:98795 |
Catel-Manzke Syndrome |
|
Micrognathia, Cleft upper lip, Narrow mouth, Pierre-Robin sequence, Cleft palate, Glossoptosis, H... |
OMIM:616145 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Death in infancy, Abdominal distention, Protuberant abdomen |
OMIM:277300 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the dentition, Open bite... |
ORPHA:2907 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Cleft palate, Knee flexion contracture, Downturned corners of... |
ORPHA:488642 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Macroglossia, Abnor... |
ORPHA:85443 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Cleft pala... |
ORPHA:306542 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Abdominal distention, Sensorineural hearing impairment, Feeding difficulties, G... |
OMIM:620275 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Small hypothenar eminence, Micrognathia, Agenesis of mandibular central inciso... |
OMIM:268305 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Wiedemann-Rautenstrauch Syndrome |
|
Abnormality of the ear, Chiari type I malformation, Downturned corners of mouth, Short philtrum, ... |
ORPHA:3455 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir... |
OMIM:137920 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Primary Effusion Lymphoma |
|
Abdominal distention, Abdominal pain |
ORPHA:48686 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Cerebellar vermis hypo... |
OMIM:619841 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micrognathia, Chiari type I malformation, Holoprosencephaly, Bifid uvula, Self-m... |
OMIM:270400 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Optic atrophy, Low-set ears, Stomatitis, Glossitis, Peripheral demyelination, Smoo... |
ORPHA:79282 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... |
OMIM:105830 |
Acrofacial Dysostosis 1, Nager Type |
|
Posteriorly rotated ears, Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Atresia of t... |
OMIM:154400 |
Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ... |
ORPHA:1876 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Abnormal eating behavior, Protruding tongue, Tongue thrusting, Wide mouth,... |
ORPHA:411511 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... |
OMIM:609136 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Protruding ear, Tics, Short philtrum, Otitis media, Compulsive behaviors, Hi... |
OMIM:619475 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
1Q21.1 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Hydrocephalus, High palate, Attention deficit hyperactivity dis... |
ORPHA:250989 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Posteriorly rotated ears, Cupped ear, Atresia of the external auditory canal... |
ORPHA:264200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Feeding difficulties in infancy, Abdominal distention, Optic... |
ORPHA:309256 |
Hartsfield Syndrome |
|
Median cleft lip, Posteriorly rotated ears, Cleft upper lip, Cleft palate, Low-set ears, Hypoplas... |
OMIM:615465 |
Neuroocular Syndrome |
|
Scapular winging, Unilateral deafness, Short uvula, Cupped ear, Submucous cleft hard palate, Ante... |
OMIM:619539 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har... |
ORPHA:261537 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Abnormality of the outer ear, Atresia of the external auditory canal, Hearing ... |
ORPHA:3186 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
Agel Amyloidosis |
|
Tongue atrophy, Facial palsy, Xerostomia, Orthostatic hypotension due to autonomic dysfunction, H... |
ORPHA:85448 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har... |
ORPHA:2152 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve... |
ORPHA:909 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Mixed hearing impairment, Micrognath... |
ORPHA:444077 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Hearin... |
ORPHA:96147 |
Angelman Syndrome |
|
Mandibular prognathia, Optic disc pallor, Hyperactivity, Aggressive behavior, Protruding tongue, ... |
ORPHA:72 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Abnormality of the temporomandibular joint, Facial palsy, ... |
ORPHA:258 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Hyperactivity, Abnormal eating behavior, Protruding tongue, Tongue thrusti... |
ORPHA:98794 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Impulsivity, Aggressive behavior, High, narrow palate, Wide mouth, Widely spaced... |
OMIM:300967 |
Thyroid Hypoplasia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95720 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stom... |
OMIM:212750 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Aminoacidu... |
ORPHA:411634 |
Meier-Gorlin Syndrome 1 |
|
Death in infancy, Microtia, Atresia of the external auditory canal, Low-set ears, Incomplete part... |
OMIM:224690 |
Ovarian Fibroma |
|
Abdominal distention, Odontogenic keratocysts of the jaw, Peritonitis, Abdominal pain |
ORPHA:314473 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Abdominal distention, Rectal atresia, Atresia of the external auditory ca... |
OMIM:617666 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Protruding tongue, Micrognathia, Protuberant abdomen, Long philtrum, Low-set ears |
ORPHA:50945 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Uplifted earlobe, Cleft har... |
ORPHA:261552 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal pinna morphology, Myelomeningocele, Cupped ear, Hydrocephalus, Atresia of... |
OMIM:219000 |
Yunis-Varon Syndrome |
|
Abnormal pinna morphology, Premature loss of primary teeth, Micrognathia, Abnormality of dental s... |
ORPHA:3472 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, Bilateral sensorineural... |
ORPHA:309263 |
Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... |
OMIM:309580 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention |
ORPHA:369 |
Achondrogenesis, Type Ia |
|
Stillbirth, Low-set ears, Protruding tongue |
OMIM:200600 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain |
ORPHA:83469 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Meckel Syndrome 14 |
|
Microretrognathia, Micrognathia, Abdominal distention, Protuberant abdomen, Low-set ears, Retrogn... |
OMIM:619879 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis |
OMIM:175500 |
Ollier Disease |
|
Multiple enchondromatosis, Abnormal cartilage morphology |
ORPHA:296 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... |
OMIM:618874 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Vertigo, Recurrent infection of the gastrointesti... |
ORPHA:51890 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... |
ORPHA:79276 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
Restrictive Dermopathy |
|
Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Large placenta, ... |
ORPHA:1662 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Microtia, Vomiting |
ORPHA:158684 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:71 |
Metachromatic Leukodystrophy, Adult Form |
|
Bowel incontinence, Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, Bil... |
ORPHA:309271 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Cleft palate, Abnormal tragu... |
ORPHA:2636 |
Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Furrowed tongue, Eosinophilia, Hearing impairment |
OMIM:158310 |
Cockayne Syndrome A |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:216400 |
Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Elevated circulating creatinine concentration, Low-set ears |
OMIM:617478 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Schimke Immuno-Osseous Dysplasia |
|
Abdominal distention, Abnormal primary molar morphology, Abnormal intestine morphology, Hypodonti... |
ORPHA:1830 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Papillorenal Syndrome |
|
Sensorineural hearing impairment, Optic disc coloboma, Elevated circulating creatinine concentration |
OMIM:120330 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Abdominal distention, Chronic diarrhea, Vomiting, Gastroesophageal refl... |
OMIM:620233 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Paraganglioma of head and neck, Aganglionic megacolon, Abdominal diste... |
ORPHA:653 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Peritonitis, Constipation, Abdominal pain |
ORPHA:168816 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Eosinophilia, Anorexia, Cheilitis, Glossitis |
ORPHA:90045 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V... |
OMIM:613070 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Flexion contracture, Generalized limb muscle atrophy, Compulsive beh... |
OMIM:618891 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointesti... |
ORPHA:2131 |
Oligomeganephronia |
|
Optic disc coloboma, Elevated circulating creatinine concentration, Hearing impairment |
ORPHA:2260 |
Floating-Harbor Syndrome |
|
Restlessness, Impulsivity, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth... |
ORPHA:2044 |
Ablepharon Macrostomia Syndrome |
|
Umbilical hernia, Microtia, Atresia of the external auditory canal, Hearing impairment |
ORPHA:920 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:133540 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Carcinoid tumor, Nausea, Neuro... |
ORPHA:100085 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Degcags Syndrome |
|
Micrognathia, Oral-pharyngeal dysphagia, High palate, Diaphragmatic eventration, Hiatus hernia, T... |
OMIM:619488 |
Microphthalmia, Syndromic 6 |
|
Posteriorly rotated ears, Uplifted earlobe, Micrognathia, Microglossia, Retrognathia, Cleft palat... |
OMIM:607932 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Cardiogenic Shock |
|
Hypoxemia, Elevated circulating creatinine concentration |
ORPHA:97292 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Leprosy |
|
Skeletal muscle atrophy, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous sys... |
ORPHA:548 |
Norrie Disease |
|
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Sel... |
ORPHA:649 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... |
ORPHA:401973 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Microtia, Conductive h... |
OMIM:190685 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Submucous cleft hard palate, Absent nasal septal cartilage, Bilateral ... |
OMIM:157170 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Gingival overgrowth, Protruding tongue |
OMIM:619179 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Posterior h... |
OMIM:312870 |
Pallister-Hall Syndrome |
|
Low-set, posteriorly rotated ears, Natal tooth, Microretrognathia, Accessory oral frenulum, Cleft... |
ORPHA:672 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent... |
ORPHA:2241 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, Micrognathia, High, narrow palate, Supernumerary tooth... |
ORPHA:2108 |
Gracile Bone Dysplasia |
|
Death in infancy, Ankyloglossia |
OMIM:602361 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Abdominal distention, Diarrhea, Oral ulcer, Vomiting |
ORPHA:93552 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in infancy, Abdominal distention, Death in childhood |
OMIM:619423 |
Generalized Pustular Psoriasis |
|
Arthritis, Geographic tongue, Cheilitis |
ORPHA:247353 |
Sepsis In Premature Infants |
|
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... |
ORPHA:90051 |
Cowden Syndrome |
|
Abnormal cerebellum morphology, Furrowed tongue, Hamartomatous polyposis, Macroglossia, High pala... |
ORPHA:201 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, ... |
ORPHA:89842 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Micrognathia, Bilateral camptodactyly, Elbow flexi... |
OMIM:619777 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Ena... |
ORPHA:79403 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Anorexia, Abdominal distention, Vertigo, Episodic abdominal pain |
ORPHA:370348 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Vomiting, Nausea, Abdominal pain |
ORPHA:90003 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Hutchinson-Gilford Progeria Syndrome |
|
High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Dental crowding, Shor... |
ORPHA:740 |
Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Necrotizing Enterocolitis |
|
Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Oral ulcer, Bowel... |
OMIM:619381 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix |
OMIM:215600 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Celiac disease, Abdominal distention, Gastrointestinal inflammation, Hep... |
ORPHA:186 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:275761 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... |
ORPHA:2729 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Gingival overgrowth, Narrow mouth |
OMIM:230600 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Compulsive behaviors, Muscle fiber atrophy, Decreased amplitude of senso... |
ORPHA:2388 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Sensorineural hearing impairment, Peritonitis, Microcolon |
OMIM:619351 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Craniosynostosis, Oral mucosal blisters, Smooth tongue, Enamel hypo... |
ORPHA:79396 |
Ovarian Fibrothecoma |
|
Abdominal distention, Peritonitis, Abdominal pain |
ORPHA:314478 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Abdominal distention |
OMIM:618528 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Abdominal distention, Episodic abdominal pain, Neuroendocrine neoplasm, Nausea |
ORPHA:100086 |
Doors Syndrome |
|
Optic atrophy, Sirenomelia, Atresia of the external auditory canal, Low-set ears, Spina bifida oc... |
ORPHA:79500 |
Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Atresia of the external audi... |
ORPHA:199 |
Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Thyroid Ectopia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95712 |
Marburg Hemorrhagic Fever |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
ORPHA:99826 |
Wilson Disease |
|
Acute hepatic failure, Decreased nerve conduction velocity, Abdominal distention, Esophageal vari... |
OMIM:277900 |
Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Abnormality of the dentition, Trismus, Flexion contracture, Elbow flexio... |
ORPHA:3206 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Acute hepatic failure, Reye syndrome-like... |
OMIM:256810 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi... |
ORPHA:309031 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention |
OMIM:246400 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Thin vermilion border |
OMIM:602557 |
Leprechaunism |
|
Abdominal distention, Rectal prolapse, Protruding ear, Megarectum, Thick vermilion border, Low-se... |
ORPHA:508 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Micrognathia, Supernumerary tooth, Low-set ears, Recurrent otitis media, Ankyloglossia |
OMIM:619525 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Poor appetite, Malabsorption |
OMIM:227810 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Micrognathia, Abdominal distention, Diarrhea, Malnutrition, Dependency on pare... |
OMIM:619991 |
Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
Castleman Disease |
|
Nausea and vomiting, Abdominal distention, Intestinal obstruction, Abdominal pain |
ORPHA:160 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Currarino Syndrome |
|
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... |
OMIM:176450 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Tented upper lip vermilion, Intestinal pseudo-obstruction, Oral-pharynge... |
ORPHA:273 |
Pyknoachondrogenesis |
|
Abdominal distention, Abnormality of mouth shape, Low-set ears |
ORPHA:3003 |
Idiopathic Hypereosinophilic Syndrome |
|
Abdominal pain, Feeding difficulties in infancy, Malabsorption, Abdominal distention, Chronic dia... |
ORPHA:3260 |
Mirizzi Syndrome |
|
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea |
ORPHA:521219 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain |
ORPHA:64739 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormal cartilage morphology, Cleft palate |
ORPHA:93284 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Macroglossia, Constipation, Abdominal distention |
OMIM:218700 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs... |
ORPHA:436252 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Hepatic failure |
ORPHA:2088 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia |
OMIM:263520 |
Plague |
|
Chapped lip, Anorexia, Enterocolitis, Inflammation of the large intestine, Glossitis, Hearing imp... |
ORPHA:707 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Multiple Osteochondromas |
|
Intestinal obstruction, Peripheral nerve compression, Abnormal cartilage morphology, Cervical mye... |
ORPHA:321 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention |
ORPHA:93352 |
X-Linked Acrogigantism |
|
Diastema, Abdominal distention |
ORPHA:300373 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Anal atresia |
OMIM:271520 |
Igg4-Related Kidney Disease |
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Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Kawasaki Disease |
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Arthritis, Glossitis, Cheilitis |
ORPHA:2331 |
Diarrhea 1, Secretory Chloride, Congenital |
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Abdominal distention, Secretory diarrhea |
OMIM:214700 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Papilledema, Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C... |
ORPHA:91500 |
Hereditary Spherocytosis |
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Abdominal distention, Abdominal pain |
ORPHA:822 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Erosion of oral mucosa, Foot joint contracture, Anal fissure, Oral mucosal blisters, Carious teet... |
ORPHA:79408 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anorexia, Oral mucosal blisters, Intestinal perforation, Oral-pharyngeal dysphagia, Diarrhea, Abd... |
ORPHA:95455 |
Pancreatoblastoma |
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Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
Yellow Fever |
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Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Glucagonoma |
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Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea |
ORPHA:97280 |
Microsporidiosis |
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Myositis, Glossitis, Anorexia |
ORPHA:2552 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Death in infancy, Hepatic failure, Abdominal distention |
OMIM:617156 |
Lymphatic Malformation 7 |
|
Abdominal distention |
OMIM:617300 |
Encephalocraniocutaneous Lipomatosis |
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Abnormal cartilage morphology |
ORPHA:2396 |
Kasabach-Merritt Syndrome |
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Abdominal distention, Abdominal pain |
ORPHA:2330 |
Carney Complex |
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Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... |
ORPHA:1359 |
Eisenmenger Syndrome |
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Abdominal distention, Vertigo |
ORPHA:97214 |
Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |