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Gene: Hoxa2 MGI:96174

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Gene Summary

Name:
homeobox A2
Synonyms:
Hox-1.11

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Hoxa2tm1b(EUCOMM)Wtsi HOM   Early adult 7.54×10-06
abnormal gait Hoxa2tm1b(EUCOMM)Wtsi HET Early adult 5.35×10-05
abnormal auditory brainstem response Hoxa2tm1b(EUCOMM)Wtsi HET   Early adult 5.67×10-06
abnormal snout morphology Hoxa2tm1b(EUCOMM)Wtsi HET   Early adult 5.03×10-05
improved glucose tolerance Hoxa2tm1b(EUCOMM)Wtsi HET   Early adult 7.82×10-05
decreased circulating creatinine level Hoxa2tm1b(EUCOMM)Wtsi HET   Early adult 7.73×10-05
decreased respiratory quotient Hoxa2tm1b(EUCOMM)Wtsi HET Early adult 9.68×10-06
decreased prepulse inhibition Hoxa2tm1b(EUCOMM)Wtsi HET Early adult 6.05×10-10

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Hoxa2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hoxa2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microtia
Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog... ORPHA:83463
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Cleft palate, Increa... OMIM:612290

The table below shows human diseases predicted to be associated to Hoxa2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac... ORPHA:3232
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, Low-set ears, Stenosis of ... ORPHA:3216
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Mullegama-Klein-Martinez Syndrome
Absent stapes, Short philtrum, Sensorineural hearing impairment, Microtia, Low-set ears, Facial p... OMIM:301022
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Sensorineural hearing impairment, Conductive hearing im... OMIM:620576
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Trisomy 8Q
Orofacial cleft, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, High pala... ORPHA:1752
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Orofaciodigital Syndrome Iii
Supernumerary tooth, Low-set ears, Microdontia, Bifid uvula, Tongue nodules, Bifid tongue OMIM:258850
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea... OMIM:185800
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Glossopharyngeal Neuralgia
Mandibular pain, Abnormal palate morphology, Ear pain, Abnormal glossopharyngeal nerve morphology... ORPHA:221098
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness-Craniofacial Syndrome
Abnormal palate morphology, Short philtrum, Sensorineural hearing impairment, Short lingual frenu... ORPHA:3241
Microtia
Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog... ORPHA:83463
Otosclerosis 10
Otosclerosis OMIM:615589
Orofaciodigital Syndrome Ii
Hydrocephalus, High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Conductive he... OMIM:252100
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Low-set ears, Intestinal malrotation, Lobar holoprosencephaly, Velopharyng... OMIM:614701
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Glossoptosis, Micrognathia, Pierre-Robin sequ... OMIM:311895
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Frontorhiny
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of the maxilla, Camptodactyly of fin... ORPHA:391474
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Conductive hearing impairm... OMIM:184460
Orofaciodigital Syndrome V
Aganglionic megacolon, Low-set ears, High palate, Ankyloglossia, Hearing impairment, Cleft palate... OMIM:174300
Cleft Velum
Recurrent otitis media, Cleft soft palate, Oral-pharyngeal dysphagia, Poor suck, Nasal regurgitat... ORPHA:99772
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation, Anal atresia, Macr... OMIM:616300
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Question mark ear, Hearing impairment, Micrognathia, Cleft palate OMIM:620457
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Auriculocondylar Syndrome 2A
Short mandibular rami, Stenosis of the external auditory canal, Dental crowding, Mandibular condy... OMIM:614669
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Intestinal Dysmotility Syndrome
Abdominal distention, Diarrhea, Projectile vomiting, Low-set ears, High palate, Decreased intesti... OMIM:620045
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Orofaciodigital Syndrome I
Supernumerary tooth, Cerebellar cyst, Hydrocephalus, Low-set ears, High palate, Myelomeningocele,... OMIM:311200
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Macrotia, Cleft palate, Aplasia/Hypoplasia of the tongue, Bifi... ORPHA:2167
Schinzel-Giedion Syndrome
Retrognathia, Broad alveolar ridges, Wide mouth, Dysphagia, Umbilical hernia, Aganglionic megacol... ORPHA:798
Bilateral Polymicrogyria
Abnormal glossopharyngeal nerve morphology, Sensorineural hearing impairment, Facial diplegia, Lo... ORPHA:268940
Atresia Of External Auditory Canal And Conductive Deafness
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... OMIM:108760
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A... ORPHA:79113
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Dental crowding, Microtia, Tooth agenesis, Wide mouth, Umbilical hernia, Long philt... OMIM:268310
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Death in infancy, Wide mouth, Umbilical hernia, Long philtrum, Low-set, pos... ORPHA:1507
Branchiootic Syndrome
Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F... ORPHA:52429
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Cleft palate, Low-set, posteriorly rotated ears, Thin upper lip vermilion ORPHA:2015
Robinow Syndrome, Autosomal Dominant 1
Retrognathia, Dental crowding, Umbilical hernia, Long philtrum, Narrow palate, Triangular mouth, ... OMIM:180700
Catel-Manzke Syndrome
Chronic otitis media, Low-set, posteriorly rotated ears, Glossoptosis, Oral synechia, Camptodacty... ORPHA:1388
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Microtia, second degree, Submucous cleft palate, Microtia, firs... OMIM:620444
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bilateral cleft palate, Micrognathia, Bifid tongue ORPHA:2001
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Sensorineural hearing impairment, Abnormality of primary teeth, Op... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Sensorineural hearing impairment, Abnormality of primary teeth, Op... ORPHA:352665
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm... ORPHA:320401
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Abno... ORPHA:2751
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Supernumerary tooth, Aplasia of the epiglottis, Cerebellar hypoplasia, M... OMIM:615948
Au-Kline Syndrome
Retrognathia, Sensorineural hearing impairment, Oligodontia, Microtia, Lipomyelomeningocele, High... OMIM:616580
Cleft Lip/Palate
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Oral-pharyngeal dysp... ORPHA:199306
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Stenosis of the external auditory canal, Dental crowding, Mandib... OMIM:602483
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Facial palsy, Nasal regurgitation, Dysphagia OMIM:617732
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Dental malocclusion, Gingival overgrowth, Low-set ears, Camptodactyly, Hearing ... OMIM:616894
Weaver-Williams Syndrome
Protruding ear, Cleft palate, Narrow mouth ORPHA:3448
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Auriculocondylar Syndrome 3
Retrognathia, Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Q... OMIM:615706
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Hearing abnormality, Intestinal polyposis, Peripheral s... ORPHA:252164
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Sensorineural hearing impairment, Tooth agenesis, Wide mouth, Lo... ORPHA:818
Chromosome 22Q11.2 Duplication Syndrome
Abnormal pinna morphology, Low-set ears, High palate, Velopharyngeal insufficiency, Micrognathia OMIM:608363
Microtia With Meatal Atresia And Conductive Deafness
Microtia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Wide mouth, Anotia OMIM:251800
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Abnormal cranial nerve physiology, Abnormal peripheral actio... ORPHA:90117
Congenital Velopharyngeal Incompetence
Hearing impairment, Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Microtia, Hearing Impairment, And Cleft Palate
Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Cleft palate, Increa... OMIM:612290
Melkersson-Rosenthal Syndrome
Facial palsy, Furrowed tongue OMIM:155900
Robinow Syndrome
Orofacial cleft, Mixed hearing impairment, Triangular mouth, Tooth malposition, Hypodontia, Broad... ORPHA:97360
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Conductive hearing impairment, Atresia of the external auditory canal OMIM:221320
Tick-Borne Encephalitis
Anorexia, Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morphology, Vertigo,... ORPHA:297
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear ossicle... OMIM:609166
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Multiple Synostoses Syndrome 1
Proximal/middle symphalangism of 5th toe, Tarsal synostosis, Cubitus valgus, Short philtrum, Disl... OMIM:186500
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Glossoptosis, Micrognathia, Cleft palate, Osteoarthritis, Long ... ORPHA:166100
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment, Oligodontia of primary teeth, Cleft soft palate, Agenesi... OMIM:216300
Autosomal Dominant Robinow Syndrome
Supernumerary tooth, High, narrow palate, Retrognathia, Short philtrum, Hypodontia, Oligodontia, ... ORPHA:3107
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Non-midline cleft of the upper lip, Microtia, Atresia of ... OMIM:141400
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate, Overfolded helix, Feeding difficulties ORPHA:209908
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cleft palate, Low-set ears, Arthrogryposis multiplex congenita OMIM:616570
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Ankle flexion contracture, Short philtrum, Abnormal pinna morphology, Elbow flexion contracture, ... ORPHA:280384
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Uplifted earlobe, Bifid uvula, Wide mouth, Do... OMIM:618779
Aase-Smith Syndrome
Abnormal pinna morphology, Camptodactyly of finger, Cleft palate, Trismus, Multiple joint contrac... ORPHA:916
Congenital Arthrogryposis With Anterior Horn Cell Disease
Retrognathia, Abnormal anterior horn cell morphology, Peripheral axonal neuropathy, Facial dipleg... OMIM:611890
Abruzzo-Erickson Syndrome
Hearing impairment, Macrotia, Protruding ear, Cleft palate OMIM:302905
Fetal Akinesia Deformation Sequence 4
Retrognathia, Low-set ears, High palate, Prenatal death, Camptodactyly, Micrognathia, Neonatal de... OMIM:618393
Orofaciodigital Syndrome Xix
Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, High palate, Low-s... OMIM:620107
Osteogenesis Imperfecta, Type Iv
Hearing impairment, Otosclerosis, Dentinogenesis imperfecta OMIM:166220
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte... OMIM:125250
Isotretinoin Embryopathy-Like Syndrome
Microtia, Cleft palate, Anotia OMIM:243440
Craniosynostosis And Dental Anomalies
Chronic otitis media, Narrow palate, Supernumerary tooth, Delayed eruption of teeth, Absent malle... OMIM:614188
X-Linked Intellectual Disability, Abidi Type
Hearing impairment, Non-midline cleft of the upper lip, Protruding ear, Cleft palate ORPHA:85273
Bor Syndrome
Retrognathia, Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, A... ORPHA:107
Fraser Syndrome
Orofacial cleft, Anal stenosis, Low-set, posteriorly rotated ears, Encephalocele, Dental crowding... ORPHA:2052
Smith-Magenis Syndrome
Orofacial cleft, Everted upper lip vermilion, Abnormal middle ear morphology, Abnormal nerve cond... OMIM:182290
Distal Deletion 15Q
Congenital diaphragmatic hernia, Short philtrum, Low-set ears, Abnormality of the dentition, Hear... ORPHA:1596
Treacher Collins Syndrome 2
Retrognathia, Microtia, Fusion of middle ear ossicles, Conductive hearing impairment, Micrognathi... OMIM:613717
Orofaciodigital Syndrome Type 14
Supernumerary tooth, Molar tooth sign on MRI, Aplasia of the epiglottis, Low-set, posteriorly rot... ORPHA:434179
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Trigeminal neuralgia, Microtia, Dental malocclu... OMIM:141300
Microtia-Anotia
Microtia, Holoprosencephaly, Anotia OMIM:600674
Mandibulofacial Dysostosis With Alopecia
Stenosis of the external auditory canal, Microtia, Dental crowding, Low-set ears, Glossoptosis, E... OMIM:616367
Auriculocondylar Syndrome
Aplasia/Hypoplasia of the external ear, Abnormality of the temporomandibular joint, Low-set, post... ORPHA:137888
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Cleft palate, Glossoptosis, Abnormality of the dentition ORPHA:3104
Cleft Palate-Large Ears-Small Head Syndrome
Gingival overgrowth, Macrotia, Micrognathia, Cleft palate, Skeletal muscle atrophy, Protruding ear ORPHA:2013
Split-Hand/Foot Malformation 3
Abnormal pinna morphology, High palate, Narrow mouth, Camptodactyly, Hypoplasia of the maxilla, C... OMIM:246560
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Facioscapulohumeral Muscular Dystrophy 1
Scapulohumeral muscular dystrophy, Sensorineural hearing impairment, Calf muscle hypertrophy, Fac... OMIM:158900
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Temporomandibular joint ankylosis, Cleft palate, Microglossia ORPHA:141152
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Low-set ears, Everted lower lip vermilion, Cleft palate, Posteriorly rotated ears... OMIM:616898
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Orofacial cleft, Abnormality of the inner ear, Sensorineural hearing impai... ORPHA:2549
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Anal atresia, Acetabular spurs, Intestinal malrotation, Cleft upper lip, Cleft palate, Hamartoma ... OMIM:613091
Catifa Syndrome
Tooth malposition, Delayed eruption of teeth, Increased overbite, Microtia, Camptodactyly, Cleft ... OMIM:618761
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Osteogenesis Imperfecta, Type I
Hearing impairment, Otosclerosis, Dentinogenesis imperfecta OMIM:166200
Treacher Collins Syndrome 3
Microtia, Conductive hearing impairment, Micrognathia, Cleft palate, Hypoplasia of the zygomatic ... OMIM:248390
Fetal Akinesia Deformation Sequence 2
High palate, Low-set ears, Micrognathia, Cleft palate, Tented upper lip vermilion, Flexion contra... OMIM:618388
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Thin vermilion border, Retrognathia, Low-set, posteriorly rotated ears, Camptodactyly of finger, ... ORPHA:2631
Zechi-Ceide Syndrome
Thin vermilion border, Abnormal earlobe morphology, Short philtrum, Stenosis of the external audi... ORPHA:217017
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Supernumerary tooth, Thick lower lip vermilion, Low-set ears, High palate,... OMIM:617412
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment OMIM:607842
Treacher Collins Syndrome 4
Conductive hearing impairment, Micrognathia, Cleft palate OMIM:618939
Orofacial Cleft 13
Retrognathia, Oligodontia, Micrognathia, Cleft soft palate OMIM:613857
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Hearing impairment, Atresia of the external auditory canal ORPHA:3023
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Aggressive behavior, Short philtrum, Tooth malposition, Otosclerosis, Mic... ORPHA:529962
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... OMIM:300614
Toriello-Carey Syndrome
Abnormal palate morphology, Aganglionic megacolon, Wide anterior fontanel, Abnormal pinna morphol... ORPHA:3338
Robinow Syndrome, Autosomal Dominant 2
Mixed hearing impairment, Triangular mouth, Cleft soft palate, Sensorineural hearing impairment, ... OMIM:616331
Deafness, X-Linked 7
Hearing impairment, Stenosis of the external auditory canal, Atresia of the external auditory can... OMIM:301018
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Upper limb amyotrophy, Knee flexi... ORPHA:496689
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Decreased nerve conduction velocity, Flexion contracture... ORPHA:580
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Choreoatheto... OMIM:617519
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal palate morphology, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle e... ORPHA:3236
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Cochlear degeneration, Tinnitus, Vertigo OMIM:601369
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Recurrent otitis media, Glossoptosis, Low-set ears, High palate, Camptodactyly, Hearing impairmen... OMIM:613604
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula, Recurrent otitis media OMIM:601492
Branchiootorenal Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Microdontia, Intestinal mal... OMIM:113650
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Braddock-Carey Syndrome 2
Retrognathia, Hearing impairment, Atresia of the external auditory canal, Pierre-Robin sequence, ... OMIM:619981
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Split-Foot Deformity With Mandibulofacial Dysostosis
Abnormality of the ear, Micrognathia, Cleft palate OMIM:183700
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Congenital sensorineural hearing impairment, Elevated circulating ... OMIM:617872
Whistling Face Syndrome, Recessive Form
Knee flexion contracture, Shoulder flexion contracture, Whistling appearance, High palate, Narrow... OMIM:277720
Otofaciocervical Syndrome
Abnormal antihelix morphology, Atresia of the external auditory canal, Macrotia, Conductive heari... ORPHA:2792
Chand Syndrome
Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala... ORPHA:1401
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Low-set ears, Midline notch of upper alveo... OMIM:617127
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Triangular mouth, Gingival overgrowth, Low-set ears, Abnormality of the dentit... OMIM:618529
Lambotte Syndrome
Atresia of the external auditory canal, Macrotia, Semilobar holoprosencephaly OMIM:245552
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Viss Syndrome
Retrognathia, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysphagia, Umbilic... OMIM:619472
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Wide anterior fontanel, High palate, Everted lower lip vermilion, Micr... OMIM:619736
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, High, narrow palate, Delayed eruption of teeth, Low-set ears, Facial palsy, Conduct... ORPHA:2780
Usher Syndrome Type 1
Vestibular hypofunction, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abn... ORPHA:231169
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Microtia, Narrow mouth, Atresia of the external auditory canal, Conductive hearing... OMIM:239800
Amish Lethal Microcephaly
Optic atrophy, Cleft soft palate, Death in infancy, Micrognathia, Feeding difficulties ORPHA:99742
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Klippel-Feil Syndrome 2, Autosomal Recessive
Sensorineural hearing impairment, Abnormal pinna morphology, Conductive hearing impairment, Cleft... OMIM:214300
Diprosopus
Non-midline cleft of the upper lip, Abnormal pinna morphology, Cleft palate ORPHA:1681
Amyotrophy, Hereditary Neuralgic
Axonal degeneration, Narrow mouth, Low-set ears, Brachial plexus neuropathy, Cleft palate, Skelet... OMIM:162100
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Short philtrum, Tooth malposition, Abnormal antihelix morpholo... ORPHA:1387
Crouzon Syndrome
Narrow palate, Optic atrophy, Hydrocephalus, Hearing impairment, Conductive hearing impairment, H... ORPHA:207
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Low-set, posteriorly rotated ears, Spina bifida occulta, Short philtr... ORPHA:949
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Stenosis of the external auditory canal, Camptodactyly, Atresia of the external auditory canal, C... OMIM:608257
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Cleft palate, Submucous cleft har... ORPHA:2521
Isolated Cleft Lip
Chronic otitis media, Supernumerary maxillary incisor, Abnormal Eustachian tube morphology, Non-m... ORPHA:199302
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy OMIM:614876
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Low-set ears, Micrognathia, Microglossia, Hypodontia OMIM:612776
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Microtia, Atresia of the external auditory canal, Conductive hearing impairment, Micrognathia, Cl... OMIM:300946
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Wide anterior fontanel OMIM:601356
Short Stature And Facioauriculothoracic Malformations
Microtia, High palate, Low-set ears, Cleft upper lip, Cleft palate, Overfolded helix, Cupped ear OMIM:609654
Bartsocas-Papas Syndrome 2
Wide anterior fontanel, Bilateral cleft palate, Low-set ears, Bilateral cleft lip, Micrognathia, ... OMIM:619339
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Retrognathia, Gastroesophageal reflux, Gingival overgrowth, Facial diplegia, High ... OMIM:618186
Genitopalatocardiac Syndrome
Cleft upper lip, Micrognathia, Cleft palate, Low-set ears OMIM:231060
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short philtrum, Low-set ears, Dilated fourth ventricle, Downturned corners of mouth, Lobulated to... OMIM:613443
Agnathia-Otocephaly Complex
Synotia, Low-set ears, Narrow mouth, Mandibular aplasia, Conductive hearing impairment, Micrognat... OMIM:202650
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Abnormal cranial nerve morphology, Narrow mouth, Mand... ORPHA:990
Opticocochleodentate Degeneration
Hearing impairment, Cochlear degeneration OMIM:258700
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Hydrocephalus, Microtia, Bilateral sensorineural hearing imp... ORPHA:2306
Coxoauricular Syndrome
Hearing impairment, Microtia, Atresia of the external auditory canal ORPHA:1508
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip, Microtia, Abnormality of t... ORPHA:246
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Atresia of the external auditory canal, Bilateral conductive hearing impairment, Oligodontia of p... ORPHA:2010
Hydrolethalus
Retrognathia, Gingival cleft, Anencephaly, Low-set, posteriorly rotated ears, Hydrocephalus, Low-... ORPHA:2189
Hypertelorism-Microtia-Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia ORPHA:2213
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment OMIM:133705
Oculoauriculofrontonasal Syndrome
Microtia, Narrow mouth, Conductive hearing impairment, Micrognathia, Cleft palate, Broad philtrum... ORPHA:398156
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Cleft soft palate, Short philtrum, Underdeveloped antitragus, Posteriorly rotated e... ORPHA:293725
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Intellectual Developmental Disorder, Autosomal Dominant 73
Retrognathia, Microtia, Everted lower lip vermilion, Broad philtrum, Aggressive behavior, Short p... OMIM:620450
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Abdominal distention, Intestinal pseudo-obstruction, Abdominal pain, Hearing impairment, Constipa... OMIM:613662
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Buratti-Harel Syndrome
Gastroesophageal reflux, Microtia, High palate, Low-set ears, Velopharyngeal insufficiency, Bifid... OMIM:619314
Larsen-Like Syndrome
Recurrent otitis media, Wide anterior fontanel, Low-set ears, Conductive hearing impairment, Clef... OMIM:608545
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Cleft palate, Narrow mouth, Cupped ear ORPHA:93946
Say Syndrome
Macrotia, Micrognathia, Cleft palate OMIM:181180
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Hearing impairment, Atresia of the external auditory canal, Aganglionic megacolon, Abnormal auton... OMIM:243180
Isotretinoin Syndrome
Microtia, Cleft palate, Micrognathia, Abnormality of the outer ear ORPHA:2305
Cree Mental Retardation Syndrome
Low-set ears, Micrognathia, Posteriorly rotated ears, Cleft soft palate OMIM:606851
Burn-Mckeown Syndrome
Hypomimic face, Thin vermilion border, Short philtrum, Mandibular prognathia, Narrow mouth, Heari... OMIM:608572
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Solitary median maxillary central incisor, Delayed eruption of teeth,... ORPHA:2712
Microcephaly 30, Primary, Autosomal Recessive
Uplifted earlobe, Pierre-Robin sequence, Thin upper lip vermilion, Cleft soft palate OMIM:620183
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, High palate, Protruding tongue, Macrotia, Posteriorly rotated ears, Wide mouth, ... OMIM:618106
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Low-set, posteriorly rotated ears, Sensorineural hea... ORPHA:1307
Lateral Meningocele Syndrome
High, narrow palate, Meningocele, Sensorineural hearing impairment, Dental crowding, Low-set ears... ORPHA:2789
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Gastroesophageal reflux, Stenosis of the external auditory canal, Poor suck, M... ORPHA:93316
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Intestinal pseudo-obstruction, Increased size of the mandible, Congenital s... OMIM:300048
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hearing impairment, Cleft upper lip, Cleft palate OMIM:120433
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Mixed hearing impairment, Sensorineural hearing impairment, Micr... OMIM:606164
Schilbach-Rott Syndrome
Microtia, Narrow mouth, Micrognathia, Bifid uvula, Posteriorly rotated ears, Submucous cleft hard... OMIM:164220
Walker-Warburg Syndrome
Optic atrophy, Muscular dystrophy, Hydrocephalus, Dandy-Walker malformation, Aplasia/Hypoplasia i... ORPHA:899
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Congenital muscular torticollis, Wide anterior fontanel, Low-set ears, ... ORPHA:457279
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Abnormality... ORPHA:268882
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Abnormal pinna morphology, Low-set ears, Abnormality of the dentit... ORPHA:178303
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Rectovaginal fistula, Low-set ears, Anal atresia, Intestinal malrotation, C... OMIM:270420
Vertebral Hypersegmentation And Orofacial Anomalies
Darwin tubercle of helix, Unilateral cleft palate, Micrognathia, Unilateral cleft lip, Submucous ... OMIM:619122
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Congenital diaphragmatic hernia, Hydrocephalus, Microtia, Tracheo... ORPHA:268249
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Meckel Syndrome, Type 8
Abdominal distention, Cleft upper lip, Cleft palate, Low-set ears OMIM:613885
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal distention, Decreased sensory nerve conduction velocity, Gastroesophageal reflux, Diarr... ORPHA:298
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Poirier-Bienvenu Neurodevelopmental Syndrome
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum OMIM:618732
Myasthenic Syndrome, Congenital, 10
Distal amyotrophy, Proximal amyotrophy, Weakness of facial musculature, Tongue atrophy OMIM:254300
Chronic Diarrhea Due To Glucoamylase Deficiency
Abdominal distention, Dyspepsia, Abnormal small intestinal mucosa morphology, Decreased small int... ORPHA:103907
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Retrognathia, Glossoptosis, Pierre-Robin sequence, Cleft palate, Knee dislocation, Advanced ossif... OMIM:620269
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Cleft Soft Palate
Cleft soft palate OMIM:119570
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal pinna morphology, Abnormal oral frenulum morphology, Bifid ... OMIM:200990
Lateral Meningocele Syndrome
Chiari type I malformation, Meningocele, Hydrocephalus, Dental crowding, Low-set ears, High palat... OMIM:130720
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Abnormality of the middle ear, Atresia of the external auditor... ORPHA:1488
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Sensorineural hearing impairment, Otosclerosis, Gingival overgrowth, Temporomandib... ORPHA:217085
Fanconi Anemia, Complementation Group L
Esophageal atresia, Hydrocephalus, Microtia, Low-set ears, Tracheoesophageal fistula, Anal atresi... OMIM:614083
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Tetraamelia Syndrome 2
Glossoptosis, Low-set ears, Ankyloglossia, Micrognathia, Cleft palate, Microretrognathia, Bilater... OMIM:618021
Marbach-Schaaf Neurodevelopmental Syndrome
Recurrent otitis media, Torticollis, Recurrent hand flapping, Downturned corners of mouth, Poster... OMIM:619680
Split-Hand/Foot Malformation 1
Hearing impairment, Abnormal pinna morphology, Cleft palate OMIM:183600
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Sensorineural hearing impairment, Otosclerosis, Gingival overgrowth, Temporomandib... ORPHA:217093
Cleidocranial Dysplasia
Chronic otitis media, Supernumerary tooth, High, narrow palate, Hearing abnormality, Spina bifida... ORPHA:1452
Vacterl With Hydrocephalus
Aqueductal stenosis, Retrognathia, Esophageal atresia, Hydrocephalus, Microtia, third degree, Tra... ORPHA:3412
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar vermis hypoplasia, Stenosis of the external auditory canal, Microtia, Cerebellar atrop... OMIM:611209
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Head-banging, Mandibular prognathia, Low-set ears, Unilateral cleft pa... OMIM:619103
Birk-Barel Syndrome
Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion... OMIM:612292
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Developmental And Epileptic Encephalopathy 80
Peripheral axonal neuropathy, Abnormal pinna morphology, Low-set ears, High palate, Protruding to... OMIM:618580
Faciocardiomelic Dysplasia, Lethal
Retrognathia, Narrow mouth, Micrognathia, Neonatal death, Microglossia OMIM:227270
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Meier-Gorlin Syndrome 5
Gastroesophageal reflux, Small earlobe, Microtia, Low-set ears, Hypoplasia of the maxilla, Microg... OMIM:613805
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Fa... ORPHA:370968
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Retrognathia, Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears, High pal... ORPHA:52055
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Cerebellar hypoplasia, Spina bifida occulta, Facial dipleg... ORPHA:96148
Burning Mouth Syndrome
Smooth tongue, Tongue pain, Abnormality of taste sensation, Parageusia, Strawberry tongue, Abnorm... ORPHA:353253
Johnson Neuroectodermal Syndrome
Microtia, Facial palsy, Atresia of the external auditory canal, Conductive hearing impairment, Pr... ORPHA:2316
Ear-Patella-Short Stature Syndrome
Retrognathia, High, narrow palate, Camptodactyly of finger, Microtia, third degree, Low-set ears,... ORPHA:2554
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Wide anterior fontanel, Low-set ears, Abnormal cartilage morphology, C... ORPHA:2347
Treacher-Collins Syndrome
Retrognathia, Microtia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Mult... ORPHA:861
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Low-set ears, Hearing impairment, Cleft palate, Ne... ORPHA:85284
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Optic nerve hypoplasia, Low-set ears, Cleft upper lip, Cleft ... OMIM:607597
Qazi-Markouizos Syndrome
Abdominal distention, High, narrow palate, Hypoplasia of teeth, Chronic constipation, Broad philt... ORPHA:3010
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large placenta, Rhabdomyosarcoma, Abnormal earlobe morphology, L... ORPHA:116
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,... ORPHA:1071
Hartnup Disorder
Glossitis OMIM:234500
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Epilepsy, Progressive Myoclonic, 9
Generalized amyotrophy, Microglossia OMIM:616540
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Joint dislocation, Glossoptosis, Camptodactyly of finger, Abnormal mandible ... ORPHA:3201
Orofaciodigital Syndrome Iv
Low-set ears, High palate, Micrognathia, Cleft palate, Lobulated tongue, Accessory oral frenulum,... OMIM:258860
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Microtia, Congenital pyloric atresia, Neonatal death, Esophageal stenosis, Oral mucosal blisters OMIM:619817
Joubert Syndrome 1
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun... OMIM:213300
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Facial hypotonia, Hyperactivity, Mandibular prognathia, High palate, Furrowed tongue, Hypoplasia ... OMIM:300534
Solar Urticaria
Vertigo, Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Thin vermilion border, Retrognathia, Death in childhood, Hydrocephalus, Sensorineural hearing imp... OMIM:612938
Neu-Laxova Syndrome
Retrognathia, Muscular dystrophy, Dandy-Walker malformation, Abnormality of the philtrum, Aplasia... ORPHA:2671
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Smooth philtrum, Esophageal atresia, Cleft soft palate OMIM:614526
Trehalase Deficiency
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption ORPHA:103909
Verloove Vanhorick-Brubakk Syndrome
Non-midline cleft of the upper lip, Microtia, Low-set ears, Atresia of the external auditory cana... ORPHA:3429
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Nager Syndrome
Abnormal palate morphology, Low-set, posteriorly rotated ears, Non-midline cleft of the upper lip... ORPHA:245
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Brown-Vialetto-Van Laere Syndrome 1
Death in childhood, Sensorineural hearing impairment, Tongue fasciculations, Cranial nerve paraly... OMIM:211530
Anophthalmia Plus Syndrome
Tessier cleft, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Non-midline... ORPHA:1104
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Retrognathia, Microdontia, Impulsivity, Eclabion, Wide mouth, Bruxism, Thickened helices, Agitati... OMIM:619950
Tarp Syndrome
Optic atrophy, Meckel diverticulum, Cerebellar vermis hypoplasia, Microtia, Low-set ears, Glossop... OMIM:311900
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Gastroesophageal reflux, Short hard palate, High palate, Glosso... OMIM:117650
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Protein-losing enteropathy, Diarrhea, Low-set ear... OMIM:608104
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Glycosuria, Elevated circulating creatinine concentration OMIM:614817
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate ORPHA:2736
Acrootoocular Syndrome
Abnormal earlobe morphology, Sensorineural hearing impairment, Low-set ears, Choking episodes, At... ORPHA:2980
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, Low-set ears, Everted lower lip vermilion, High palate, Protruding tongue,... OMIM:617804
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Mixed hearing impairment, Cleft hard palate, Delayed eruption of teeth, Sensorineural hearing imp... OMIM:300990
Native American Myopathy
Gastroesophageal reflux, High palate, Conductive hearing impairment, Downturned corners of mouth,... ORPHA:168572
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate, Low-set ears, Posteriorly rotated ears OMIM:613456
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Hydrocephalus, Low-set ears, High palate, Smooth philtrum, Long philtrum, Su... OMIM:612863
Raine Syndrome
Mixed hearing impairment, Hydrocephalus, Death in infancy, Abnormal pinna morphology, Gingival ov... OMIM:259775
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, Low-set, posteriorly rotated ears, Spina bifida occulta, Delayed ... ORPHA:235
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Low-set ears, High palate, Conductive hear... OMIM:277170
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Submucous cleft hard palate, Bifid uvula OMIM:619239
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Carey-Fineman-Ziter Syndrome 1
Retrognathia, Pectoralis hypoplasia, Weakness of facial musculature, Trismus, Hypoplasia of the m... OMIM:254940
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Retrognathia, Sensorineural hearing impairment, Gingival overgrowth, Mandi... OMIM:212066
Cardiofaciocutaneous Syndrome 1
Optic nerve dysplasia, Peripheral axonal neuropathy, Abnormality of the dentition, Hearing impair... OMIM:115150
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Low-set ears, Abnormal antitragus morphology, Posteriorly rotated ea... ORPHA:2759
Athyreosis
Constipation, Abdominal distention, Macroglossia, Feeding difficulties ORPHA:95713
Crouzon Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Optic atrophy, Hydrocephalus OMIM:123500
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Gastroesophageal reflux, Optic nerve hypoplasia, Micro... OMIM:301043
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Narrow palate, Sensory axonal neuropathy, Absent internal auditory canal, Profound sensorineural ... OMIM:620469
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Esophageal atresia, Spina bifida occulta, Low-set ears, Tracheoesophageal fistula, ... OMIM:619227
Arthrogryposis, Distal, Type 5D
Limited elbow movement, Elbow flexion contracture, Narrow mouth, Furrowed tongue, Camptodactyly, ... OMIM:615065
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Sensorineural hearing impairment, Cleft lip, Cleft palate OMIM:612370
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Short hard palate, Glossoptosis, Myelomeningocele, Spina bifida, At... ORPHA:1393
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Loeys-Dietz Syndrome 5
Retrognathia, Cleft soft palate, High palate, Eosinophilic infiltration of the esophagus, Bifid u... OMIM:615582
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Compulsive behaviors, Impulsivity, Dysphagia, Violent behavior, Tongue atrophy ORPHA:216873
Stickler Syndrome, Type I
Sensorineural hearing impairment, Conductive hearing impairment, Micrognathia, Bifid uvula, Cleft... OMIM:108300
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Cleft hard palate ORPHA:166016
Clark-Baraitser syndrome
Thick lower lip vermilion, Genu valgum, Genu recurvatum, Prominent median palatal raphe, Exaggera... OMIM:300602
Desmosterolosis
Retrognathia, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hydrocephalus, Low-... ORPHA:35107
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Micrognathia, Cleft palate, Cleft upper lip OMIM:601076
Spinocerebellar Ataxia Type 36
Vertigo, Tongue fasciculations, Hearing impairment, Skeletal muscle atrophy, Dysphagia, Attention... ORPHA:276198
Orofaciodigital Syndrome Type 4
Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Abnormality of the ear, Short philt... ORPHA:2753
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Scapular winging, Intrinsic hand muscle atrophy, Fiber type grouping, Gene... OMIM:620285
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Lower limb muscle weakness, Upper limb muscle weakness, Foot dorsiflexor weakness, Tongue atrophy OMIM:616155
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Decreased nerve conduction velocity, Distal lower limb m... ORPHA:101085
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Submucous cleft ha... OMIM:617660
Tetraploidy
Micrognathia, Cleft palate, Hypoplasia of the ear cartilage, Short philtrum ORPHA:3305
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Microtia, Hearing impairment, Micrognathia, Submucous cleft soft palate, Feedi... ORPHA:2282
Kleefstra Syndrome 1
Abnormal pinna morphology, Mandibular prognathia, Everted lower lip vermilion, Compulsive behavio... OMIM:610253
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Furrowed tongue ORPHA:2743
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Sensorineural hearing impairment, Oligodontia, Exaggerated cupid's bow, Exaggerated median tongue... OMIM:608670
Treacher Collins Syndrome 1
Cleft soft palate, Microtia, Narrow mouth, Atresia of the external auditory canal, Conductive hea... OMIM:154500
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Delayed ossification of carpal bones, Glossoptosis, Hearing impairment, Carious teeth, Micrognathia ORPHA:93346
Familial Visceral Myopathy
Abdominal distention, Aganglionic megacolon, Low-set, posteriorly rotated ears, Micrognathia, Cle... ORPHA:2604
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Elevated circulating creatinine concentration OMIM:616733
Aase-Smith Syndrome I
Abnormal pinna morphology, Cleft palate, Flexion contracture, Open mouth OMIM:147800
Monosomy 9P
Congenital diaphragmatic hernia, Abnormal antihelix morphology, Microtia, Low-set ears, Abnormali... ORPHA:261112
Volvulus Of Midgut
Abdominal distention, Intestinal malrotation, Constipation, Volvulus, Neonatal intestinal obstruc... OMIM:193250
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Recurrent otitis media, Widely spaced teeth, Microtia, Microdontia, Hearing impairment, Hypoplasi... ORPHA:2728
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Abdominal distention, Protein-losing enteropathy, Low-set ears, High palate, Death in infancy, Mi... OMIM:235255
Diarrhea 12, With Microvillus Atrophy
Abdominal distention, Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, ... OMIM:619445
Spinocerebellar Ataxia 36
Tongue fasciculations, Cerebellar atrophy, Hearing impairment, Skeletal muscle atrophy, Dysphagia... OMIM:614153
Joubert Syndrome 18
Retrognathia, Camptodactyly, Cleft palate, Lobulated tongue, Trident pelvis OMIM:614815
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Death in childhood, Sensorineural hearing impairment, Abnormal helix morphol... OMIM:214100
Double Outlet Right Ventricle
Narrow mouth, Intestinal malrotation, Cleft palate, Feeding difficulties, Abnormality of cartilag... ORPHA:3426
7Q31 Microdeletion Syndrome
Long philtrum, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Tortic... ORPHA:251061
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Atresia of the external auditory canal, Microtia, Low-set, posteriorly rotated ears, Umbilical he... ORPHA:1770
Moebius Syndrome
Aplasia of the pectoralis major muscle, High palate, Everted lower lip vermilion, Microdontia, To... ORPHA:570
Hypomandibular Faciocranial Dysostosis
Maxillozygomatic hypoplasia, Low-set ears, Narrow mouth, Death in infancy, Bifid uvula, Cleft pal... ORPHA:1790
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Hearing abnormality, Low-set, posteriorly rotated ears, Meningocele, Glossoptosis, Protruding ear ORPHA:2031
Icf Syndrome
Low-set ears, Protruding tongue, Communicating hydrocephalus, Micrognathia, Umbilical hernia, Mac... ORPHA:2268
Myopathy, Myofibrillar, 7
Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Z-band... OMIM:617114
Generalized Arterial Calcification Of Infancy
Mixed hearing impairment, Sensorineural hearing impairment, Calcification of the auricular cartil... ORPHA:51608
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Chiari type I malformation, Microtia, Glossoptosis, Wrist flexion contractur... ORPHA:436003
Small Bowel Atresia
Abdominal distention, Intestinal hypoplasia, Intestinal malrotation, Vomiting, Feeding difficulti... ORPHA:1201
Dubowitz Syndrome
Episodic vomiting, Delayed eruption of teeth, Gastroesophageal reflux, Chronic diarrhea, High pal... OMIM:223370
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Thick anterior alveolar ridges, Abnormal pinna morphology, Microt... ORPHA:2839
Marden-Walker Syndrome
Retrognathia, Muscular dystrophy, Hydrocephalus, Aplasia/Hypoplasia involving the skeletal muscul... ORPHA:2461
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Glossoptosis, Micrognathia, Bifid uvula, Posteriorly rotated ea... ORPHA:1427
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Fanconi Renotubular Syndrome 3
Glycosuria, Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i... ORPHA:35122
Gorham-Stout Disease
Mandibular pain, Abnormality of the temporomandibular joint, Torticollis, Abnormality of the inte... ORPHA:73
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Flexion contracture, Skeletal muscle atrophy, Tongue atrophy, Hip dislocation OMIM:614678
Wolman Disease
Vomiting, Abdominal distention, Acute hepatic failure, Death in infancy OMIM:620151
Pallister-Hall-Like Syndrome
Death in infancy, Micrognathia, Cleft palate, Microglossia, Median cleft upper lip, Hip dislocation OMIM:241800
Distal Deletion 9P
High, narrow palate, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Aplasia/Hy... ORPHA:1642
Marshall-Smith Syndrome
Optic atrophy, Retrognathia, Gingival overgrowth, Protruding tongue, Conductive hearing impairmen... ORPHA:561
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Cleft palate, Low-set ears ORPHA:85166
16P13.11 Microdeletion Syndrome
Sensorineural hearing impairment, Low-set ears, Compulsive behaviors, Atresia of the external aud... ORPHA:261236
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Steatorrhea, Orofacial cleft, Abnormal small intesti... ORPHA:92050
Saethre-Chotzen Syndrome
Narrow palate, Optic atrophy, Abnormal antihelix morphology, Sensorineural hearing impairment, Ab... ORPHA:794
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Low-set ears, Abnormality of the dentiti... ORPHA:2752
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Abnormal pinna morphology, Oligodontia, Low-set ears, Glossoptosis,... ORPHA:90652
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Coronal craniosynostosis, Micrognathia, Aglossia, Pursed lips OMIM:241310
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI, Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, High pa... ORPHA:2754
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, A... ORPHA:206448
Juvenile Sialidosis Type 2
Optic atrophy, Gingival overgrowth, Low-set ears, Protruding tongue, Hearing impairment, Dysphagi... ORPHA:93399
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Ataxia, Optic disc pallor OMIM:619260
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Sensorineural hearing impairment, Micrognathia, Cleft palate, Glossoptosis ORPHA:440354
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Arthrogryposis, Distal, Type 3
High palate, Camptodactyly of toe, Camptodactyly of finger, Bifid uvula, Cleft palate, Distal art... OMIM:114300
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Microtia, Low-set ears, Hearing i... OMIM:613309
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, C... OMIM:615237
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Hypotriglyceridemia, Low-set ears, Decreased serum creat... OMIM:618885
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hypodontia, Abnormality of the philtrum, Low-set ears, Microdontia, Cleft lip, Cleft upper lip, M... OMIM:225060
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Retrognathia, Sensorineural hearing impairment, Attached earlobe, Thin lower lip vermilion, Low-s... OMIM:619194
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Microtia, Dysphagia, Median pseudocleft lip, Hydrocephalus, Dandy-Walker malformati... OMIM:616462
Rhizomelic Chondrodysplasia Punctata, Type 2
Optic nerve hypoplasia, Submucous cleft hard palate, Micrognathia, High palate OMIM:222765
Chromosome 1P36 Deletion Syndrome, Distal
Sensorineural hearing impairment, Microtia, Self-mutilation, Bifid uvula, Dysphagia, Abnormality ... OMIM:607872
Mandibulofacial Dysostosis, Guion-Almeida Type
Microtia, Low-set ears, Atresia of the external auditory canal, Conductive hearing impairment, Ov... OMIM:610536
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Folinic Acid-Responsive Seizures
Optic atrophy, Sensorineural hearing impairment, Abdominal distention ORPHA:79097
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Ectopic anus, Anal atresia, Cleft upper lip, Micrognathia, Long philtrum, Bif... ORPHA:93271
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Furrowed tongue ORPHA:2928
Sialuria
Low-set ears, High palate, Smooth philtrum, Long philtrum, Macroglossia, Protuberant abdomen, Thi... OMIM:269921
Trisomy 8P
Thin vermilion border, Retrognathia, Abnormal middle ear morphology, Hydrocephalus, Dandy-Walker ... ORPHA:264450
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Mixed hearing impairment, Cleft soft palate, Conductive hearing impairment, High-frequency sensor... OMIM:614557
X-Linked Agammaglobulinemia
Chronic otitis media, Sensorineural hearing impairment, Glossoptosis ORPHA:47
Ring Chromosome 22 Syndrome
Inappropriate behavior, Protruding tongue, Macrotia, Thick vermilion border, Neurofibroma ORPHA:1446
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Abnormal pinna morphology, Low-set ears, Median cleft palate, Intesti... OMIM:269860
46,Xy Sex Reversal 4
Recurrent otitis media, Sensorineural hearing impairment, Microtia, High palate, Anal atresia, Mi... OMIM:154230
Mucopolysaccharidosis Type 3
Chronic otitis media, Mixed hearing impairment, Hyperactivity, Sensorineural hearing impairment, ... ORPHA:581
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Orthostatic hypotension, Sensorineural hearing impairment, Dysdiadochokinesis, Abno... ORPHA:99027
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Short philtrum, Low-set ears, Furrowed tongue, Everted lower lip vermilion, High pa... OMIM:616449
Distal Deletion 12Q
Obsessive-compulsive trait, Supernumerary tooth, High, narrow palate, Esophageal atresia, Hyperac... ORPHA:96149
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... ORPHA:95427
Fibrochondrogenesis 1
Stillbirth, Wide anterior fontanel, Abnormal pinna morphology, Narrow mouth, Low-set ears, Cleft ... OMIM:228520
Thalidomide Embryopathy
Hearing impairment, Anotia, Abnormality of the outer ear ORPHA:3312
Orofaciodigital Syndrome Type 10
Retrognathia, Cleft soft palate, Micrognathia, Long philtrum, Accessory oral frenulum ORPHA:2756
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529808
Campomelic Dysplasia
Hydrocephalus, Wide anterior fontanel, Low-set ears, Narrow mouth, High palate, Spina bifida, Hea... OMIM:114290
Isolated Polycystic Liver Disease
Abdominal distention, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abdominal pain, Feedi... ORPHA:2924
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Lower limb amyotrophy, Cerebellar atrophy, Upper limb muscle weakness, Congenital finger flexion ... ORPHA:466768
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Ver... ORPHA:313892
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bruxism, Branchial anomaly, Abnormal helix morphology, Oligodontia, High palate, Furrowed tongue,... ORPHA:453499
Branchiooculofacial Syndrome
Sensorineural hearing impairment, Microtia, Malrotation of colon, Elbow flexion contracture, Abno... OMIM:113620
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Everted lower lip vermilion, Protruding tongue, Macrotia, Smooth philtrum,... ORPHA:324410
Opitz Gbbb Syndrome
Rectourethral fistula, Solitary median maxillary central incisor, Wide anterior fontanel, Low-set... OMIM:300000
Congenital Sialidosis Type 2
Optic atrophy, Hydrocephalus, Gingival overgrowth, Low-set ears, Protruding tongue, Hearing impai... ORPHA:93400
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Atresia of the external auditory canal, Conductive hearing impairment, Simple ear OMIM:602471
Lipoid Proteinosis
Thick lower lip vermilion, High palate, Abnormality of the gingiva, Abnormal oral mucosa morpholo... ORPHA:530
Woolly Hair Nevus
Widely-spaced incisors, Enlarged vestibular aqueduct ORPHA:79414
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Bowel incontinence,... ORPHA:88628
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Stenosis of the external auditory canal, Low-set ears, Wrist flex... OMIM:260660
Cohen Syndrome
Optic atrophy, High, narrow palate, Short philtrum, Aplasia/Hypoplasia of the earlobes, Sensorine... ORPHA:193
Cardiofaciocutaneous Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Functional abnormality of the gastrointestinal ... ORPHA:1340
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, Glossoptosis, Cerebellar atrophy, Micrognathia, Cleft palate... OMIM:618356
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Optic nerve hypoplasia, Glossoptosis, Microdontia, Eclabion,... OMIM:602535
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Small earlobe, Oligodontia, Exaggerated cupid's bow, Long upper lip, Evert... ORPHA:364577
Congenital Pancreatic Cyst
Anorexia, Abdominal distention, Vomiting, Abdominal pain ORPHA:313906
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration, Papilledema OMIM:620366
Tolchin-Le Caignec Syndrome
Sensorineural hearing impairment, Abnormal vestibular function, Low-set ears, High palate, Narrow... OMIM:618971
Restrictive Dermopathy 1
Short umbilical cord, Stillbirth, Wide anterior fontanel, Temporomandibular joint ankylosis, Low-... OMIM:275210
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Craniofacial Microsomia 1
Occipital encephalocele, Transverse facial cleft, Hydrocephalus, Sensorineural hearing impairment... OMIM:164210
Pfeiffer Syndrome Type 2
Atresia of the external auditory canal, Aqueductal stenosis, Low-set ears, Hydrocephalus ORPHA:93259
Lead Poisoning
Anorexia, Abdominal distention, Delayed eruption of teeth, Abdominal pain, Miscarriage, Abnormali... ORPHA:330015
Branchioskeletogenital Syndrome
Thin vermilion border, Mixed hearing impairment, Short philtrum, Attached earlobe, Rootless teeth... ORPHA:1299
Kapur-Toriello Syndrome
Atresia of the external auditory canal, Posteriorly rotated ears, Low-set ears ORPHA:2328
Ohdo Syndrome, Sbbys Variant
Low-set ears, Microdontia, Hearing impairment, Micrognathia, Cleft palate, Posteriorly rotated ea... OMIM:603736
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Gingival overgrowth, Low-set ears, Protruding tongue, Choking episodes OMIM:620352
Neu-Laxova Syndrome 2
Low-set ears, High palate, Micrognathia, Cleft palate, Protuberant abdomen OMIM:616038
Carey-Fineman-Ziter Syndrome
Thin vermilion border, Aplasia of the pectoralis major muscle, Glossoptosis, High palate, Facial ... ORPHA:1358
Faciocardiorenal Syndrome
Hypodontia, Narrow mouth, Cleft palate, Smooth philtrum, Protruding ear ORPHA:1973
Preeclampsia
Elevated circulating creatinine concentration, Type I diabetes mellitus ORPHA:275555
Fraser Syndrome 1
Tessier cleft, Abnormal middle ear morphology, Difficulty in tongue movements, Encephalocele, Hyd... OMIM:219000
Fontaine Progeroid Syndrome
Retrognathia, Everted lower lip vermilion, Microdontia, Death in infancy, Left ventricular hypert... OMIM:612289
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Spinocerebellar atrophy, Hearing impairment, Proximal amyotrophy, Cochlear degener... ORPHA:95433
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Chromosome 18Q Deletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Stenosis of the external auditory canal, Hearing... OMIM:601808
Intellectual Developmental Disorder, Autosomal Dominant 29
Narrow palate, Hyperactivity, Dental crowding, Low-set ears, High palate, Narrow mouth, Ankyloglo... OMIM:616078
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Elevated circulating long chain fatty acid concentration, Elevated circulating crea... OMIM:608836
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Orofacial cleft, Low-set, posteriorly rotated ears, Short philtr... ORPHA:958
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Proximal muscle weakness in upper... ORPHA:99956
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Orthostatic hypotension, Hypoglycemia, Increased blood urea nitrogen, Insulin r... ORPHA:230
Hypoglossia-Hypodactylia
Retrognathia, Narrow mouth, Micrognathia, Microglossia, Aglossia OMIM:103300
Tarp Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Small earlobe, G... ORPHA:2886
Cap Polyposis
Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,... ORPHA:160148
Myhre Syndrome
Thin vermilion border, Gingival cleft, Mandibular prognathia, Narrow mouth, Hearing impairment, H... ORPHA:2588
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Tongue thrusting, Recurrent hand flapping, Cerebellar atrophy, Impulsivity, Prot... OMIM:619580
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Ataxia OMIM:616881
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Micrognathia, Macroglossia, Low-set ears, Protruding tongue OMIM:242860
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Recurrent otitis media, Absent cupid's bow, Abnormal Eustachian tube... ORPHA:513456
Diamond-Blackfan Anemia 11
Atresia of the external auditory canal, Stenosis of the external auditory canal OMIM:614900
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Recurrent otitis media, Low-set ears, Fusion of middle ear ossic... OMIM:157800
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormality of peripheral nerve conduction, Abnormal peripheral ... ORPHA:168563
Cockayne Syndrome Type 1
Optic atrophy, Difficulty walking, Absent brainstem auditory responses, Gait disturbance, Increas... ORPHA:90321
Orofaciodigital Syndrome Type 1
Chronic otitis media, Broad alveolar ridges, Abnormal dental enamel morphology, Open bite, High p... ORPHA:2750
Van Maldergem Syndrome 1
Wide anterior fontanel, Sensorineural hearing impairment, Microtia, Atresia of the external audit... OMIM:601390
W Syndrome
Submucous cleft hard palate, Upper lip pit, Broad uvula, Agenesis of maxillary central incisor ORPHA:2804
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abdominal distention, Protein-losing enteropathy, Low-set ears, High palate, Micrognathia, Smooth... ORPHA:1655
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Hydrocephalus, Abnormal dental enamel morphology, Mandibular prognathia, Fac... ORPHA:2658
Zttk Syndrome
Optic atrophy, Thin vermilion border, Intestinal atresia, Short philtrum, Chronic diarrhea, High ... OMIM:617140
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Difficulty in tongue movements, Weakness of facial musculature, Sensorineural hear... ORPHA:99949
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Abnormal pinna morphology, Microtia, Low-set ears, Anal atresia, Microgna... OMIM:617925
Limb-Mammary Syndrome
Cleft hard palate, Hypodontia, Bifid uvula, Submucous cleft soft palate, Cleft palate, Protruding... ORPHA:69085
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Sensorineural hearing impairment, Narrow mouth, Low-set ears, Cerebellar atrophy, P... OMIM:608779
Van Maldergem Syndrome 2
Wide anterior fontanel, Sensorineural hearing impairment, Microtia, Stenosis of the external audi... OMIM:615546
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Dental crowding, Impulsivity, Wide mouth, Dysphagia, Bruxism, Peripheral ax... OMIM:619503
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, High, narrow palate, Short philtrum, Mandibular prognathia, Exaggerated cupid's bow... ORPHA:464738
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Thick lower lip vermilion, Sensorineural hearing impairment, Microtia, Mandibular prognathia, Low... OMIM:301040
Achondrogenesis, Type Ii
Stillbirth, Cleft palate, Microretrognathia, Long philtrum, Protuberant abdomen OMIM:200610
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cleft palate, Holoprosencephaly, Thick vermilion border, Submuco... ORPHA:250999
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Cowden Syndrome 5
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hearing impairment, Hypoplas... OMIM:615108
Plummer-Vinson Syndrome
Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Tongue atrophy ORPHA:54028
Coffin-Siris Syndrome 12
Enlarged cerebellum, Protruding ear, Sensorineural hearing impairment, Low-set ears, High palate,... OMIM:619325
Arthrogryposis, Distal, Type 2A
Hearing impairment, Short nose, Abnormal auditory evoked potentials, Wide nasal bridge OMIM:193700
Leukocyte Adhesion Deficiency Type Ii
Narrow palate, Recurrent otitis media, Severe periodontitis, Small earlobe, Microtia, Long upper ... ORPHA:99843
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Wide nasal bridge OMIM:614376
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Abnormal earlobe morphology, Sensorineural hearing impairment, Narrow mouth,... ORPHA:261330
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the cerebellar vermis, Hypodontia, Dandy-W... ORPHA:2745
Distal Deletion 19P
Low-set, posteriorly rotated ears, Short philtrum, Sensorineural hearing impairment, Hypoplasia o... ORPHA:96129
Diamond-Blackfan Anemia 7
Hearing impairment, Atresia of the external auditory canal, Recurrent otitis media OMIM:612562
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia, Microtia, Low-set ... OMIM:236670
Acute Interstitial Pneumonia
Hypoxemia, Elevated circulating creatinine concentration, Cyanosis, Elevated circulating C-reacti... ORPHA:79126
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Retrognathia, Narrow mouth, High palate, Low-set ears, Micrognathia, Cleft palate, Protruding ear OMIM:301091
Kinsship Syndrome
Thick lower lip vermilion, Widely spaced teeth, Short philtrum, Dandy-Walker malformation, Gingiv... OMIM:619297
Hypoglossia-Hypodactyly Syndrome
High palate, Narrow mouth, Anal atresia, Death in infancy, Micrognathia, Cleft palate, Aplasia/Hy... ORPHA:989
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Psoriasis 14, Pustular
Geographic tongue, Oligoarthritis, Furrowed tongue, Polyarticular arthritis OMIM:614204
Hardikar Syndrome
Decreased liver function, Gastric varix, Mild hearing impairment, Hematemesis, Cleft soft palate,... OMIM:301068
Velocardiofacial Syndrome
Retrognathia, Velopharyngeal insufficiency, Cleft palate, Pierre-Robin sequence, Open mouth, Abno... OMIM:192430
Acromelic Frontonasal Dysostosis
Encephalocele, Midline facial cleft, Optic nerve hypoplasia, Low-set ears, Retrocerebellar cyst, ... OMIM:603671
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Abdominal distention, Constipation, Macroglossia, Protuberant abdomen, Feeding difficulties in in... ORPHA:226313
Mandibuloacral Dysplasia
Abnormal tongue morphology, Dental crowding, Delayed cranial suture closure, High palate, Hypopla... ORPHA:2457
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gingival overgrowth, Low-set ears, Wide mouth, Protruding tongue OMIM:618797
Mulibrey Nanism
Dental crowding, Enamel hypoplasia, Microglossia, Hypodontia, Dental malocclusion OMIM:253250
Cowden Syndrome 6
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hearing impairment, Hypoplas... OMIM:615109
Diffuse Alveolar Hemorrhage
Hypoxemia, Elevated circulating creatinine concentration ORPHA:90060
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Microtia, Bifid uvula, Broad philtrum, Atresia of the external auditory... OMIM:620186
Ritscher-Schinzel Syndrome 2
Short philtrum, Wide anterior fontanel, Dandy-Walker malformation, High palate, Camptodactyly, Pr... OMIM:300963
Giant Cell Arteritis
Optic atrophy, Anorexia, Glossitis, Vertigo, Hearing impairment, Conductive hearing impairment ORPHA:397
Rabson-Mendenhall Syndrome
Polydipsia, Advanced eruption of teeth, Dental crowding, Gingival overgrowth, Mandibular prognath... ORPHA:769
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Supernumerary tooth, Retrognathia, Widely spaced teeth, Cleft soft palate, Gastroesophageal reflu... ORPHA:268261
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Cerebellar vermis hypoplasia, Sensorineural hearing impairment, Abnormal pinna mor... OMIM:616975
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Okur-Chung Neurodevelopmental Syndrome
Low-set ears, Overfolded helix, High palate, Protruding tongue, Recurrent hand flapping, Frequent... OMIM:617062
Down Syndrome
Narrow palate, Aganglionic megacolon, Thick lower lip vermilion, Narrow mouth, Round ear, Microdo... ORPHA:870
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Lelis Syndrome
Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue ORPHA:140936
Beare-Stevenson Cutis Gyrata Syndrome
Atresia of the external auditory canal, Optic atrophy, Posteriorly rotated ears, Hydrocephalus OMIM:123790
Neurofaciodigitorenal Syndrome
Abnormal tragus morphology, Abnormal pinna morphology, Low-set ears, Abnormal antitragus morpholo... ORPHA:2673
Meckel Syndrome, Type 1
Occipital encephalocele, Anencephaly, Intestinal malrotation, Wide mouth, Large placenta, Hydroce... OMIM:249000
Seckel Syndrome 2
Micrognathia, Microdontia, Microglossia OMIM:606744
Duane Retraction Syndrome
Spina bifida occulta, Sensorineural hearing impairment, Abnormal pinna morphology, Stenosis of th... ORPHA:233
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Retrognathia, Abnormal antihelix morphology, Neoplasm of the tongue, Low-set ears, Micrognathia, ... ORPHA:3047
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Microretrognathia, Microglossia ORPHA:1972
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Stomatitis, Glossitis, Microtia, Low-set ears, High palate, Tracheoesophageal fistula, Thin upper... OMIM:277380
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Wolman Disease
Abdominal distention, Steatorrhea, Nausea and vomiting, Esophageal varix, Malnutrition, Hepatic f... ORPHA:75233
Porphyria Due To Ala Dehydratase Deficiency
Abdominal distention, Episodic vomiting, Diarrhea, Abdominal pain, Hearing impairment, Nausea, Co... ORPHA:100924
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Cowden Syndrome 1
High palate, Furrowed tongue, Narrow mouth, Hamartomatous polyposis, Hearing impairment, Hypoplas... OMIM:158350
Donohue Syndrome
Abdominal distention, Thick lower lip vermilion, Gingival overgrowth, Low-set ears, Macrotia, Wid... OMIM:246200
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Orthostatic hypoten... OMIM:223900
Achondrogenesis Type 1A
Long philtrum, Abdominal distention, Micrognathia ORPHA:93299
Stuve-Wiedemann Syndrome 1
Thin vermilion border, Contracture of the proximal interphalangeal joint of the 5th finger, Flexi... OMIM:601559
Acquired Hypertrichosis Lanuginosa
Glossitis, Macroglossia ORPHA:2221
Cronkhite-Canada Syndrome
Intestinal polyposis, Stomach cancer, Furrowed tongue, Hamartomatous polyposis, Colon cancer, Hyp... ORPHA:2930
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Everted lower lip vermilion, Microdontia, Wide mouth, Dysphagia, Long philtrum, Br... OMIM:615873
Mowat-Wilson Syndrome
Abdominal distention, Aganglionic megacolon, Recurrent otitis media, Widely spaced teeth, Delayed... OMIM:235730
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Barber-Say Syndrome
Hearing impairment, Abnormal pinna morphology, Atresia of the external auditory canal ORPHA:1231
Diamond-Blackfan Anemia
Cleft soft palate, Microtia, Low-set ears, High palate, Adenocarcinoma of the colon, Micrognathia... ORPHA:124
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia ORPHA:439232
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Downturned corners of mouth, Abnormal tongue morphology ORPHA:531151
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Low-set, posteriorly rotated ears, Pectoral muscle hypoplasia/aplasia, Hypoplasia ... ORPHA:306542
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Genu valgum, Glossoptosis, Flat acetabular roof, Hearing impairment, Micr... ORPHA:94068
Meckel Syndrome
Optic atrophy, Anencephaly, Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Dand... ORPHA:564
Lenz-Majewski Hyperostotic Dwarfism
Spina bifida occulta, Knee flexion contracture, Sensorineural hearing impairment, Mandibular prog... OMIM:151050
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Microphthalmia, Syndromic 2
Supernumerary tooth, Radiculomegaly, Dental malocclusion, Delayed eruption of teeth, Sensorineura... OMIM:300166
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Atelosteogenesis, Type I
Stillbirth, Multinucleated giant chondrocytes in epiphyseal cartilage, Low-set ears, Micrognathia... OMIM:108720
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Gastroparesis, Abdominal pain, Spontaneous esophageal perforation, Malnutri... OMIM:277320
Holoprosencephaly 9
Agenesis of incisor, Thick lower lip vermilion, Solitary median maxillary central incisor, Short ... OMIM:610829
Pallister-Hall Syndrome
Microtia, Anal atresia, Atresia of the external auditory canal, Cleft upper lip, Natal tooth, Pos... OMIM:146510
Stickler Syndrome
Chronic otitis media, Sensorineural hearing impairment, Glossoptosis, Tooth agenesis, Bifid uvula... ORPHA:828
Amyotrophic Lateral Sclerosis
Agitation, Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Upper limb m... ORPHA:803
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Tympanosclerosis, Enamel hypoplasia, Atrophic gastritis OMIM:240300
Inflammatory Pseudotumor Of The Liver
Vomiting, Abdominal distention, Nausea, Abdominal pain ORPHA:90003
Bosma Arhinia Microphthalmia Syndrome
Dental malocclusion, Abnormal pinna morphology, Absent tragus, High palate, Atresia of the extern... OMIM:603457
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Protein-losing enteropathy, Hematochezia ORPHA:103910
Ramos-Arroyo Syndrome
Aganglionic megacolon, Smooth tongue, Bilateral sensorineural hearing impairment, Narrow mouth, A... ORPHA:1051
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Bilateral Perisylvian Polymicrogyria
Abnormality of masticatory muscle, Limb hypertonia, Cerebellar vermis hypoplasia, Facial diplegia... ORPHA:98889
Melkersson-Rosenthal Syndrome
Cheilitis, Macroglossia, Facial palsy, Furrowed tongue ORPHA:2483
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Knee flexion contracture, Sensorineural hearing impairment, Elbow flexion contracture, Furrowed t... OMIM:148210
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Cleft soft palate, Optic nerve hypoplasia, Intestinal malrotation, Downturned corn... OMIM:619321
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Thin vermilion border, Short philtrum, Gastroparesis, Gastroesophageal reflux, Opt... ORPHA:500150
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sensorineural hearing impairment, Septo-optic dysplasia, Wide mouth, Aggressive behavior, Agenesi... OMIM:619841
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Smith-Lemli-Opitz Syndrome
Hyperactivity, Broad alveolar ridges, Dental crowding, Cerebellar atrophy, Death in infancy, Inte... OMIM:270400
Malignant Peritoneal Mesothelioma
Abdominal distention, Ileus, Peritonitis, Abdominal pain ORPHA:168811
Visceral Myopathy 1
Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Int... OMIM:155310
Al Amyloidosis
Abdominal distention, Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Gastropare... ORPHA:85443
Hereditary Mucoepithelial Dysplasia
Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula ORPHA:1839
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Impulsivity, Broad philtrum, Bruxism, Aggressive behavior, Agitation, Short uvula,... OMIM:619475
Arboleda-Tham Syndrome
Chronic otitis media, Small earlobe, Underdeveloped tragus, Intestinal malrotation, Wide mouth, D... OMIM:616268
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level, Wide nasal bridge, Post... OMIM:301110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hereditary Acrokeratotic Poikiloderma
Open bite, Gingival bleeding, Abnormality of the dentition, Gingivitis, Narrow mouth, Hearing imp... ORPHA:2907
Oculogastrointestinal Muscular Dystrophy
Abdominal distention, Gastroparesis, Intestinal pseudo-obstruction, Abnormal gastric mucosa morph... ORPHA:1876
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue ORPHA:98795
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth OMIM:600972
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Bilateral conductive hearing impairment, Ankyloglossia, Hearing impairment, Downturned corners of... ORPHA:488642
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic ne... ORPHA:909
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Protuberant abdomen, Death in infancy OMIM:277300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Sensorineural hearing impairment, Dental crowding, Bifid uvula, Dysphagia, Bruxism, Enlarged cere... ORPHA:261537
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Abdominal distention, Gastroesophageal reflux, Sensorineural hearing impairment, Death in infancy... OMIM:620275
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... OMIM:613095
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Cleft palate, Submucous c... ORPHA:2250
Catel-Manzke Syndrome
Glossoptosis, Low-set ears, High palate, Narrow mouth, Camptodactyly, Cleft upper lip, Micrognath... OMIM:616145
Wiedemann-Rautenstrauch Syndrome
Retrognathia, Abnormality of the ear, Optic atrophy, Hearing abnormality, Short philtrum, Hydroce... ORPHA:3455
Primary Effusion Lymphoma
Abdominal distention, Abdominal pain ORPHA:48686
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... OMIM:609136
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hyperuricemia, Impaired glucose tolerance, Glycosuria, Diab... OMIM:137920
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Aganglionic megacolon, Hydrocephalus, Low-set ears, Atresia of the external ... OMIM:154400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Angelman Syndrome
Widely spaced teeth, Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mo... OMIM:105830
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Tongue thrusting, Mandibular prognathia, Recurrent hand flapping, Protruding... ORPHA:411511
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Sensorineural hearing impairment, High palate, Ankyloglossia, Attention deficit hy... ORPHA:250989
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Hydrocephalus, Glossitis, Stomatitis, Low-set ears, Smooth philtrum, Peripheral de... ORPHA:79282
Primary Peritoneal Carcinoma
Abdominal distention, Abdominal pain, Constipation, Peritonitis, Nausea and vomiting ORPHA:168829
Neuroocular Syndrome
Retrognathia, Widely spaced teeth, Short uvula, Increased overbite, Unilateral deafness, Low-set ... OMIM:619539
Warburg-Cinotti Syndrome
Low-set ears, Atresia of the external auditory canal, Conductive hearing impairment, Posteriorly ... OMIM:618175
Mowat-Wilson Syndrome
Sensorineural hearing impairment, Dental crowding, Everted lower lip vermilion, Bifid uvula, Dysp... ORPHA:2152
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abdominal distention, Decreased nerve conduction velocity, Bilateral sensorineural... ORPHA:309256
14Q22Q23 Microdeletion Syndrome
Hearing impairment, Atresia of the external auditory canal, Optic nerve aplasia, Posteriorly rota... ORPHA:264200
Agel Amyloidosis
Facial palsy, Hearing impairment, Orthostatic hypotension due to autonomic dysfunction, Xerostomi... ORPHA:85448
Glucose/Galactose Malabsorption
Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Malabsorption OMIM:606824
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Recurrent otitis media, Gastroesophageal reflux, Chronic diarrhea, Vomiting... OMIM:620233
Hartsfield Syndrome
Hypoplasia of the frontal bone, Low-set ears, Cleft upper lip, Cleft palate, Posteriorly rotated ... OMIM:615465
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hearing impairment, Atresia of the external auditory canal, Holoprosencephaly, Abnormality of the... ORPHA:3186
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Mixed hearing impairment, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Gl... ORPHA:444077
Kleefstra Syndrome Due To 9Q34 Microdeletion
Everted lower lip vermilion, Protruding tongue, Hearing impairment, Downturned corners of mouth, ... ORPHA:96147
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Sensorineural hearing impairment, Dental crowding, Abnormal jaw morphology, Bifid uvula, Dysphagi... ORPHA:261552
Angelman Syndrome
Optic atrophy, Widely spaced teeth, Tongue thrusting, Hyperactivity, Mandibular prognathia, Recur... ORPHA:72
Trisomy 10P
Short nose, Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ... ORPHA:171929
Acute Intermittent Porphyria
Abdominal distention, Diarrhea, Abdominal pain, Cranial nerve paralysis, Constipation, Nausea and... ORPHA:79276
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Pontocerebellar atrophy, Abnormal brainstem MRI signal intensity, Abnormality... ORPHA:258
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Glycosuria, Hypophosphatemia, Hypocalcemic... ORPHA:411634
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Tongue thrusting, Hyperactivity, Mandibular prognathia, Recurrent hand flapp... ORPHA:98794
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft palate, High palate, Ankyloglossia, Enamel hypoplasia, Bilateral cleft lip, Thin ... OMIM:618874
Thyroid Hemiagenesis
Constipation, Abdominal distention, Macroglossia ORPHA:95719
Thyroid Hypoplasia
Constipation, Abdominal distention, Macroglossia ORPHA:95720
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Celiac Disease, Susceptibility To, 1
Abdominal distention, Steatorrhea, Recurrent aphthous stomatitis, Stomatitis, Abdominal pain, Dia... OMIM:212750
Meier-Gorlin Syndrome 1
Incomplete partition of the cochlea type II, Microtia, Low-set ears, Death in infancy, Hearing im... OMIM:224690
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Atresia of the external auditory canal, Conductive hearing impairment OMIM:106260
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain ORPHA:83469
Fraser Syndrome 2
Abdominal distention, Low-set ears, Narrow mouth, Anal atresia, Intestinal malrotation, Atresia o... OMIM:617666
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abdominal distention, Decreased nerve conduction velocity, Bilateral sensorineural... ORPHA:309263
Ovarian Fibroma
Abdominal distention, Peritonitis, Abdominal pain, Odontogenic keratocysts of the jaw ORPHA:314473
Blomstrand Lethal Chondrodysplasia
Low-set ears, Protruding tongue, Micrognathia, Natal tooth, Long philtrum, Protuberant abdomen ORPHA:50945
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Widely spaced teeth, Short philtrum, Dental crowding, Narrow mouth, Impulsiv... OMIM:300967
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal distention, Vertigo, Abdominal pain, Nausea, Recurrent infection of the gastr... ORPHA:51890
Yunis-Varon Syndrome
Thin vermilion border, High, narrow palate, Broad secondary alveolar ridge, Short philtrum, Hydro... ORPHA:3472
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Sensorineural hearing impairment, Microtia, Hypoplastic philtrum, Lower limb hyper... OMIM:309580
Meckel Syndrome 14
Retrognathia, Abdominal distention, Low-set ears, Micrognathia, Microretrognathia, Protuberant ab... OMIM:619879
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption ORPHA:71
Achondrogenesis, Type Ia
Stillbirth, Low-set ears, Protruding tongue OMIM:200600
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Microtia, Congenital pyloric atresia, Vomiting, Oral mucosal blisters ORPHA:158684
Mucoepithelial Dysplasia, Hereditary
Hearing impairment, Eosinophilia, Furrowed tongue, Erythematous oral mucosa OMIM:158310
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Cyanosis, Low-set ears OMIM:617478
Restrictive Dermopathy
Short umbilical cord, Large placenta, Small placenta, Temporomandibular joint ankylosis, Low-set ... ORPHA:1662
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Abdominal distention, Decreased nerve conduction velocity, Bilateral sensorineural... ORPHA:309271
Nephrotic Syndrome, Type 1
Pyloric stenosis, Abdominal distention, Gastroesophageal reflux OMIM:256300
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Elevated circulating creatinine concentration, Decreased... ORPHA:85450
Hartnup Disease
Glossitis, Gingivitis ORPHA:2116
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Retrognathia, Abnormal tragus morphology, Low-set ears, Micrognathia, Bifid uvula, Posteriorly ro... ORPHA:2636
Holoprosencephaly 2
Solitary median maxillary central incisor, Bilateral cleft palate, Aplasia of the premaxilla, Med... OMIM:157170
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Papillorenal Syndrome
Sensorineural hearing impairment, Elevated circulating creatinine concentration, Optic disc coloboma OMIM:120330
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:36234
Schimke Immuno-Osseous Dysplasia
Abdominal distention, Abnormal intestine morphology, Abnormal primary molar morphology, Microdont... ORPHA:1830
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Protein-losing enteropathy, Xerostomia, Hamartomatous polyposis OMIM:175500
Colonic Atresia
Peptic ulcer, Abdominal distention, Duodenal stenosis, Colonic atresia ORPHA:1198
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Generalized limb muscle atrophy, Compulsive behaviors, Flexion contracture, Attention deficit hyp... OMIM:618891
Oligomeganephronia
Hearing impairment, Elevated circulating creatinine concentration, Optic disc coloboma ORPHA:2260
Alternating Hemiplegia Of Childhood
Anorexia, Abdominal distention, Oral-pharyngeal dysphagia, Diarrhea, Exaggerated cupid's bow, Abn... ORPHA:2131
Peritoneal Cystic Mesothelioma
Constipation, Abdominal distention, Peritonitis, Abdominal pain ORPHA:168816
Hereditary Folate Malabsorption
Anorexia, Cheilitis, Glossitis, Skeletal muscle atrophy, Eosinophilia ORPHA:90045
Liver Failure, Infantile, Transient
Abdominal distention, Death in infancy, Vomiting, Acute hepatic failure, Feeding difficulties in ... OMIM:613070
Multiple Endocrine Neoplasia Type 2
Abdominal distention, Aganglionic megacolon, Ganglioneuromatosis, Abnormal tongue morphology, Mul... ORPHA:653
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea, Carcinoid tumor, Neuro... ORPHA:100085
Cardiogenic Shock
Hypoxemia, Elevated circulating creatinine concentration, Cyanosis ORPHA:97292
Acrodermatitis Enteropathica
Glossitis, Cheilitis, Furrowed tongue, Abnormality of the tongue ORPHA:37
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Ablepharon Macrostomia Syndrome
Hearing impairment, Microtia, Atresia of the external auditory canal, Umbilical hernia ORPHA:920
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Floating-Harbor Syndrome
Abnormal temper tantrums, Short philtrum, Oligodontia, Low-set ears, Cochlear malformation, Micro... ORPHA:2044
Mend Syndrome
Low-set ears, Elevated 8(9)-cholestenol, Abnormal auditory evoked potentials, Elevated 8-dehydroc... ORPHA:401973
Degcags Syndrome
Retrognathia, Sensorineural hearing impairment, Choking episodes, Wide mouth, Long philtrum, Unil... OMIM:619488
Necrotizing Enterocolitis
Abdominal distention, Abdominal rigidity, Diarrhea, Hypoactive bowel sounds, Bloody diarrhea, Vom... ORPHA:391673
Microvillus Inclusion Disease
Abnormal small intestinal villus morphology, Abdominal distention, Diarrhea, Villous atrophy ORPHA:2290
Microphthalmia, Syndromic 6
Retrognathia, Inferior cerebellar vermis hypoplasia, Low-set ears, High palate, Hearing impairmen... OMIM:607932
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Sickle Cell Anemia
Hypoxemia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Odontoonychodermal Dysplasia
Conical incisor, Smooth tongue, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t... OMIM:257980
Leprosy
Abnormal seventh cranial physiology, Enlarged peripheral nerve, Abnormal autonomic nervous system... ORPHA:548
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Neonatal death, Microcolon OMIM:619362
Hallermann-Streiff Syndrome
Supernumerary tooth, High, narrow palate, Glossoptosis, Abnormality of the dentition, Narrow mout... ORPHA:2108
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Vomiting, Osmotic diarrhea, Malnutrition, Hyperactive bowel sounds ORPHA:35710
Gracile Bone Dysplasia
Ankyloglossia, Death in infancy OMIM:602361
Down Syndrome
Aganglionic megacolon, Microtia, Anal atresia, Protruding tongue, Conductive hearing impairment, ... OMIM:190685
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Gingival overgrowth, Protruding tongue OMIM:619179
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Pediatric Systemic Lupus Erythematosus
Abdominal distention, Diarrhea, Oral ulcer, Abdominal pain, Vomiting ORPHA:93552
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Meckel diverticulum, Intestinal malrotation, Wide mouth, Umbilic... OMIM:312870
Norrie Disease
Optic atrophy, Thin vermilion border, Sensorineural hearing impairment, Abnormal helix morphology... ORPHA:649
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abdominal distention, Death in infancy, Intestinal malrotation, Microcolon, Hypoperistalsis, Naus... ORPHA:2241
Pallister-Hall Syndrome
Cerebellar hypoplasia, Low-set, posteriorly rotated ears, Auricular tag, Microtia, Anal atresia, ... ORPHA:672
Combined Oxidative Phosphorylation Deficiency 53
Abdominal distention, Death in childhood, Death in infancy OMIM:619423
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis, Arthritis ORPHA:247353
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anal fissure, Narrow mouth, Abnormal esophagus morphology, Ankyloglossia, Carious teeth, Skeletal... ORPHA:89842
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Cleft palate, Glossitis ORPHA:79284
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Diarrhea, Functional abnormality of the gastroint... ORPHA:90051
Developmental And Epileptic Encephalopathy 100
Bilateral camptodactyly, Gingival overgrowth, Elbow flexion contracture, High palate, Microdontia... OMIM:619777
Cowden Syndrome
Colorectal polyposis, High palate, Furrowed tongue, Hamartomatous polyposis, Hearing impairment, ... ORPHA:201
Junctional Epidermolysis Bullosa With Pyloric Atresia
Abdominal distention, Congenital pyloric atresia, Enamel hypoplasia, Nausea and vomiting, Intesti... ORPHA:79403
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dentition, Abnorma... ORPHA:158668
Hutchinson-Gilford Progeria Syndrome
Thin vermilion border, Retrognathia, Delayed eruption of teeth, Prominent ear helix, Short lingua... ORPHA:740
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Esophageal varix OMIM:215600
Pachyonychia Congenita 3
Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia OMIM:615726
Lysosomal Acid Lipase Deficiency
Decreased liver function, Abdominal distention, Steatorrhea, Malnutrition, Diarrhea, Abdominal pa... ORPHA:275761
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal autonomic ne... ORPHA:2388
Okamoto Syndrome
Anal stenosis, Abnormal helix morphology, Open bite, Low-set ears, Exaggerated median tongue furr... ORPHA:2729
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Gm1-Gangliosidosis, Type Ii
Gingival overgrowth, Narrow mouth, Protruding tongue OMIM:230600
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Peripheral Primitive Neuroectodermal Tumor
Anorexia, Abdominal distention, Vertigo, Episodic abdominal pain, Nausea and vomiting ORPHA:370348
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Distal lower limb amyotrophy, Smooth tongue, Enamel hypoplasia, Craniosynostosis, Oral mucosal bl... ORPHA:79396
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Recurrent otitis media, Low-set ears, Ankyloglossia, Micrognathia OMIM:619525
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Sensorineural hearing impairment, Microcolon, Peritonitis OMIM:619351
Ovarian Fibrothecoma
Abdominal distention, Peritonitis, Abdominal pain ORPHA:314478
Cornelia De Lange Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Compulsive behaviors, Atresi... ORPHA:199
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Marburg Hemorrhagic Fever
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hypoglycemia, H... ORPHA:99826
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Episodic abdominal pain, Nausea, Neuroendocrine neoplasm ORPHA:100086
Primary Biliary Cholangitis
Gastrointestinal inflammation, Abdominal distention, Steatorrhea, Orthostatic hypotension, Esopha... ORPHA:186
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis ORPHA:35858
Doors Syndrome
Optic atrophy, Sirenomelia, Spina bifida occulta, Low-set ears, Atresia of the external auditory ... ORPHA:79500
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention OMIM:618528
Stüve-Wiedemann Syndrome
Genu valgum, Knee flexion contracture, Smooth tongue, Elbow flexion contracture, Abnormality of t... ORPHA:3206
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Abdominal distention, Diarrhea, Reye syndrome-like episodes, Vomiting, Acute hepatic failure, Dec... OMIM:256810
Hypomagnesemia 3, Renal
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... OMIM:248250
Hereditary Fructose Intolerance
Abdominal distention, Diarrhea, Abdominal pain, Chronic hepatic failure, Vomiting, Nausea, Consti... ORPHA:469
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, C... ORPHA:309031
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Abdominal distention, Abdominal pain ORPHA:160
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Thin vermilion border OMIM:602557
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Leprechaunism
Abdominal distention, Rectal prolapse, Low-set ears, Thick vermilion border, Protruding ear, Mega... ORPHA:508
Thyroid Ectopia
Constipation, Abdominal distention, Macroglossia, Dysphagia ORPHA:95712
Letterer-Siwe Disease
Stomatitis, Abdominal distention OMIM:246400
Currarino Syndrome
Perianal abscess, Abdominal distention, Anal stenosis, Gastrointestinal obstruction, Rectovaginal... OMIM:176450
Neuroblastoma
Abdominal distention, Chronic diarrhea, Horner syndrome ORPHA:635
Liver Disease, Severe Congenital
Abdominal distention, Protein-losing enteropathy, Recurrent otitis media, Diarrhea, Chronic gastr... OMIM:619991
Steinert Myotonic Dystrophy
Obsessive-compulsive trait, Intestinal pseudo-obstruction, Abnormality of masticatory muscle, Ora... ORPHA:273
Pyknoachondrogenesis
Abdominal distention, Low-set ears, Abnormality of mouth shape ORPHA:3003
Polyembryoma
Abdominal distention, Abdominal pain ORPHA:180229
Idiopathic Hypereosinophilic Syndrome
Abdominal distention, Chronic diarrhea, Abdominal pain, Vomiting, Malabsorption, Dysphagia, Feedi... ORPHA:3260
Wilson Disease
Abdominal distention, Decreased nerve conduction velocity, Esophageal varix, Vomiting, Acute hepa... OMIM:277900
Mirizzi Syndrome
Anorexia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abdominal colic ORPHA:521219
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain ORPHA:64739
Hypothyroidism, Congenital, Nongoitrous, 2
Constipation, Abdominal distention, Macroglossia, Feeding difficulties in infancy OMIM:218700
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Rectal abscess, Bloody diarrhea, Intestinal malrotation, Jejunoileal ulcera... ORPHA:436252
Fanconi-Bickel Syndrome
Abdominal distention, Hepatic failure ORPHA:2088
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Intestinal malrotation, Cleft palate, Microglossia, Hamartoma of tongue, Median cleft upper lip OMIM:263520
Kawasaki Disease
Cheilitis, Glossitis, Arthritis, Strawberry tongue, Lip fissure ORPHA:2331
Plague
Anorexia, Glossitis, Hearing impairment, Inflammation of the large intestine, Enterocolitis, Ilei... ORPHA:707
Fanconi-Bickel Syndrome
Abdominal distention, Poor appetite, Malabsorption OMIM:227810
Multiple Osteochondromas
Peripheral nerve compression, Intestinal obstruction, Cervical myelopathy, Abnormal cartilage mor... ORPHA:321
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention ORPHA:93352
X-Linked Acrogigantism
Abdominal distention, Diastema ORPHA:300373
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Low-set ears, Hearing impairment, Conjugated hyperbilirubinemia, Protruding e... OMIM:619534
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Anal atresia OMIM:271520
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Papilledema, Aminoaciduria, Elevated circulating C... ORPHA:91500
Pancreatoblastoma
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:677
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea OMIM:214700
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Anal fissure, Foot joint contracture, Narrow mouth, Ankyloglossia, Carious teeth, Esophageal ulce... ORPHA:79408
Hereditary Spherocytosis
Abdominal distention, Abdominal pain ORPHA:822
Spondyloepiphyseal Dysplasia Tarda
Abnormal cartilage morphology ORPHA:93284
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... ORPHA:99829
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Abdominal distention, Gastrointestinal inflammation, Oral-pharyngeal dysphagia, Diarrhe... ORPHA:95455
Holt-Oram Syndrome
Long philtrum, Micrognathia, Cleft soft palate OMIM:142900
Glucagonoma
Stomatitis, Intestinal obstruction, Steatorrhea, Glossitis ORPHA:97280
Microsporidiosis
Glossitis, Myositis, Anorexia ORPHA:2552
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Abdominal distention, Hepatic failure, Death in infancy OMIM:617156
Lymphatic Malformation 7
Abdominal distention OMIM:617300
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology ORPHA:2396
Kasabach-Merritt Phenomenon
Abdominal distention, Abdominal pain ORPHA:2330
Carney Complex
Esophageal neoplasm, Neoplasm of the stomach, Abnormal hard palate morphology, Neoplasm of the re... ORPHA:1359
Eisenmenger Syndrome
Abdominal distention, Vertigo ORPHA:97214
Atresia Of Urethra
Abdominal distention ORPHA:105
Multicystic Dysplastic Kidney
Abdominal distention ORPHA:1851

Histopathology

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

There is no histopathology data for Hoxa2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hoxa2.

No publications found that use IMPC mice or data for Hoxa2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Hoxa2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Hoxa2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hoxa2tm86337(L1L2_gt1_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hoxa2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Hoxa2tm86337(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hoxa2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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