Gene Summary

Name:
homeobox A2
Synonyms:
Hox-1.11

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal snout morphology Hoxa2tm1b(EUCOMM)Wtsi HET   Early adult 5.03×10-05
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
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
abnormal auditory brainstem response Hoxa2tm1b(EUCOMM)Wtsi HET   Early adult 5.67×10-06
decreased prepulse inhibition Hoxa2tm1b(EUCOMM)Wtsi HET Early adult 6.05×10-10
improved glucose tolerance Hoxa2tm1b(EUCOMM)Wtsi HET   Early adult 7.82×10-05

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Viewing: all phenotypes

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 Lateral Orientation

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

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.

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, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... OMIM:124490
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... ORPHA:3232
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Conductive Deafness-Malformed External Ear Syndrome
High palate, Conductive hearing impairment, Abnormal pinna morphology, Sensorineural hearing impa... ORPHA:3216
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Accessory oral frenulum, Conductive hearing impairm... ORPHA:79113
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Lip pit, Micrognat... ORPHA:52429
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Glossopharyngeal Neuralgia
Mandibular pain, Odynophagia, Cranial nerve compression, Feeding difficulties, Oral-pharyngeal dy... ORPHA:221098
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Proximal symphalangism of han... OMIM:185800
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Glossoptosis, Retrognathia, Micrognathia, Bilateral cond... OMIM:615706
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Trisomy 8Q
Myelomeningocele, High palate, Protruding ear, Cleft palate, Everted lower lip vermilion, Microgn... ORPHA:1752
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules, Low-set ears OMIM:258850
Deafness-Craniofacial Syndrome
Sensorineural hearing impairment, Abnormality of the dentition, Short philtrum, Bifid tongue, Sho... ORPHA:3241
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Intestinal m... OMIM:614701
Auriculocondylar Syndrome 2
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Abnormal pinna mor... OMIM:614669
Mohr Syndrome
High palate, Conductive hearing impairment, Hydrocephalus, Agenesis of central incisor, Accessory... OMIM:252100
Otosclerosis 10
Otosclerosis OMIM:615589
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Fused cervical vert... OMIM:184460
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Cleft palate, Glossoptosis, Micrognathia, Pie... OMIM:311895
Frontorhiny
Congenital conductive hearing impairment, Basal encephalocele, Cleft palate, Camptodactyly of fin... ORPHA:391474
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Micrognathia, Cleft palate OMIM:261800
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Cleft Velum
Conductive hearing impairment, Nasal regurgitation, Velopharyngeal insufficiency, Poor suck, Hypo... ORPHA:99772
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Microretrognathia, Cleft palate, Bifid tongue, Cerebellar hypoplasia, Lobulated ton... OMIM:616300
Orofaciodigital Syndrome V
High palate, Low-set ears, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue,... OMIM:174300
Bilateral Polymicrogyria
Facial diplegia, Sensorineural hearing impairment, Wide mouth, Pseudobulbar paralysis, Feeding di... ORPHA:268940
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Bor Syndrome
Abnormality of the middle ear ossicles, Cleft palate, Stenosis of the external auditory canal, Re... ORPHA:107
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
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
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Bifid tongue, Low-set, posteriorly rotated ears, ... ORPHA:2167
Orofaciodigital Syndrome I
Myelomeningocele, High palate, Hydrocephalus, Cleft upper lip, Alveolar ridge overgrowth, Supernu... OMIM:311200
Isolated Pierre Robin Syndrome
Glossoptosis, Micrognathia, Cleft palate ORPHA:718
Schinzel-Giedion Syndrome
High palate, Wide mouth, Abnormal helix morphology, Infantile sensorineural hearing impairment, S... ORPHA:798
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex co... OMIM:611369
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... OMIM:609166
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Wide mouth, Sensorineural hearing impairment, Conductive hearing impairment, Abnorm... ORPHA:2549
Periventricular Nodular Heterotopia 7
Flexion contracture, Cleft palate, Micrognathia, Optic atrophy, Hearing impairment OMIM:617201
Orofaciodigital Syndrome Xiv
Abnormal pinna morphology, Supernumerary tooth, Microretrognathia, Cleft palate, Holoprosencephal... OMIM:615948
Microtia
Abnormal pinna morphology, Microtia, Holoprosencephaly, Anotia, Atresia of the external auditory ... ORPHA:83463
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Robinow Syndrome, Autosomal Recessive 1
Wide mouth, Gingival overgrowth, Wide anterior fontanel, Triangular mouth, Absent uvula, Macroglo... OMIM:268310
Robinow Syndrome, Autosomal Dominant 1
High palate, Triangular mouth, Delayed eruption of teeth, Umbilical hernia, Retrognathia, Microgn... OMIM:180700
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Cleft palate ORPHA:2015
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Low-set ears, Arthrogryposis multiplex congenita, Cleft palate OMIM:616570
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Micrognathia, Bifid tongue, Bilateral cleft lip and palate ORPHA:2001
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, Tooth agenesis, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, Tooth agenesis, ... ORPHA:352665
Tick-Borne Encephalitis
Abnormality of the vestibular nerve, Abnormal autonomic nervous system physiology, Anorexia, Vomi... ORPHA:297
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Abnormal palate morphology... ORPHA:3236
Autosomal Recessive Robinow Syndrome
Wide mouth, Abnormality of the dentition, Short philtrum, Tented upper lip vermilion, Umbilical h... ORPHA:1507
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Abnormality of the dentition, Oral cleft, Hearing impairment, Morph... OMIM:182290
Catel-Manzke Syndrome
Cleft palate, Glossoptosis, Micrognathia, Camptodactyly of finger, Chronic otitis media, Low-set,... ORPHA:1388
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Robinow Syndrome, Autosomal Dominant 3
Low-set ears, Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Micrognat... OMIM:616894
Auriculocondylar Syndrome 1
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Cleft palate, Glos... OMIM:602483
Weaver-Williams Syndrome
Narrow mouth, Protruding ear, Cleft palate ORPHA:3448
Intestinal Dysmotility Syndrome
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... OMIM:620045
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial palsy OMIM:155900
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Microtia With Meatal Atresia And Conductive Deafness
Wide mouth, Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Orofaciodigital Syndrome Type 2
High palate, Conductive hearing impairment, Protruding ear, Agenesis of central incisor, Taurodon... ORPHA:2751
Treacher Collins Syndrome 3
Conductive hearing impairment, Cleft palate, Microtia, Micrognathia, Abnormality of the outer ear OMIM:248390
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:949
Cleft Lip With Or Without Cleft Palate
Submucous cleft of soft and hard palate, Non-midline cleft lip, Non-midline cleft palate, Recurre... ORPHA:1991
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Hearing impairment, Velopharyngeal insufficiency ORPHA:2291
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Bilateral conductive hearing impairment, Oligodontia of primary teeth, Cl... OMIM:216300
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate, Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing ... OMIM:612290
Multiple Synostoses Syndrome 1
Thick upper lip vermilion, Conductive hearing impairment, Stapes ankylosis, Carpal synostosis, Di... OMIM:186500
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Cleft palate, Glossoptosis, Micrognathia, Osteoarthritis, Long ... ORPHA:166100
Robinow Syndrome
Dental malocclusion, Gingival overgrowth, Persistence of primary teeth, Triangular mouth, Tooth m... ORPHA:97360
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... ORPHA:1435
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Dysphagia, Abnormal peripheral action potential amplitu... ORPHA:90117
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... ORPHA:320401
Cleft Lip/Palate
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... ORPHA:199306
Smith-Lemli-Opitz Syndrome
Sensorineural hearing impairment, Wide mouth, Gingival overgrowth, Tooth agenesis, Supernumerary ... ORPHA:818
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Sensorineural hearing impairment, Bifid uvula, Cleft palate OMIM:618768
Autosomal Dominant Robinow Syndrome
Low-set ears, Anodontia, Gingival overgrowth, Supernumerary tooth, High, narrow palate, Hypodonti... ORPHA:3107
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Temple Syndrome
High palate, Hydrocephalus, Cleft palate, Flexion contracture, Micrognathia, Short philtrum, Bifi... OMIM:616222
Aase-Smith Syndrome
Multiple joint contractures, Abnormal pinna morphology, Cleft palate, Camptodactyly of finger, Tr... ORPHA:916
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Facial palsy, Velopharyngeal insufficiency OMIM:617732
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media OMIM:221320
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment, Bifid uvula ORPHA:2669
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Isolated Cleft Lip
Conductive hearing impairment, Velopharyngeal insufficiency, Hypodontia, Abnormal Eustachian tube... ORPHA:199302
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
High palate, Wide mouth, Abnormal pinna morphology, Macroglossia, Short philtrum, Dysphagia, Elbo... ORPHA:280384
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Cleft palate, Short mandibular rami, Microtia, Oral cleft, Atresia... OMIM:141400
Abruzzo-Erickson Syndrome
Hearing impairment, Protruding ear, Cleft palate, Macrotia OMIM:302905
Lateral Meningocele Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2789
Craniosynostosis And Dental Anomalies
High palate, Conductive hearing impairment, Stapes ankylosis, Dental malocclusion, Narrow palate,... OMIM:614188
Treacher Collins Syndrome 2
Conductive hearing impairment, Micrognathia, Cleft palate, Microtia OMIM:613717
Isotretinoin Embryopathy-Like Syndrome
Anotia, Cleft palate, Microtia OMIM:243440
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Cleft palate, Micro... OMIM:113650
Auriculocondylar Syndrome
Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft palate, Mandibular condyle... ORPHA:137888
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Hearing impairment, Bifid uvula OMIM:256200
Fraser Syndrome
Myelomeningocele, Conductive hearing impairment, High palate, Cleft upper lip, Abnormality of the... ORPHA:2052
Carey-Fineman-Ziter Syndrome 2
Protruding ear, Velopharyngeal insufficiency, High, narrow palate, Abnormal skeletal muscle morph... OMIM:619941
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Micrognathia, Cleft palate ORPHA:3104
X-Linked Intellectual Disability, Abidi Type
Hearing impairment, Protruding ear, Cleft palate, Non-midline cleft lip ORPHA:85273
Lateral Meningocele Syndrome
High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,... OMIM:130720
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Supernumerary tooth, Microretrognathia, Cleft palate, Bifid tongue, Dila... ORPHA:434179
Hemifacial Atrophy, Progressive
Dental malocclusion, Short mandibular rami, Microtia, Delayed eruption of teeth, Tongue atrophy OMIM:141300
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Arthrogryposis, Distal, Type 1C
High palate, Hip contracture, Narrow mouth, Pursed lips, Cleft palate, Thin vermilion border, Cam... OMIM:619110
Microtia-Anotia
Microtia, Anotia, Holoprosencephaly OMIM:600674
Chromosome 15Q14 Deletion Syndrome
Cleft palate, Everted lower lip vermilion, Short philtrum, Cleft lip, Tented upper lip vermilion,... OMIM:616898
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Abnormal pinna morphology, Microretrognathia, Cleft palate, Camptodact... OMIM:246560
Facioscapulohumeral Muscular Dystrophy 1
Sensorineural hearing impairment, Scapulohumeral muscular dystrophy, Calf muscle hypertrophy, Sca... OMIM:158900
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Palate-Large Ears-Small Head Syndrome
Gingival overgrowth, Protruding ear, Cleft palate, Micrognathia, Macrotia, Skeletal muscle atrophy ORPHA:2013
Cleft Soft Palate
Cleft soft palate OMIM:119570
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Protruding ear, Cleft palate, Everted lower lip vermilion, Glossop... OMIM:616367
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... OMIM:125250
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Microglossia, Temporomandibular joint ankylosis, Cleft palate ORPHA:141152
Orofaciodigital Syndrome Vi
High palate, Conductive hearing impairment, Cleft upper lip, Accessory oral frenulum, Cleft palat... OMIM:277170
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment, Dentinogenesis imperfecta OMIM:166220
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Facial palsy, ... OMIM:601596
Catifa Syndrome
Tooth malposition, Cleft palate, Microtia, Long philtrum, Delayed eruption of teeth, Camptodactyl... OMIM:618761
Rosselli-Gulienetti Syndrome
Cleft upper lip, Anodontia, Abnormality of the ear, Hypodontia, Cleft palate, Microdontia, Abnorm... OMIM:225000
Meckel Syndrome, Type 10
Abnormal pinna morphology, Cleft palate, Anencephaly, Bifid uvula, Dilated fourth ventricle, Camp... OMIM:614175
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Acetabular spurs, Anal atresia, Cleft palate, Intestinal malrotation, Bifid tong... OMIM:613091
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Arthrogryposis mult... OMIM:201550
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Thin vermilion border, Overfolded helix, Camptodactyly of finger, Retrognathia, Low... ORPHA:2631
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Treacher Collins Syndrome 4
Conductive hearing impairment, Micrognathia, Cleft palate OMIM:618939
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... OMIM:601455
Tetraamelia Syndrome 2
Microretrognathia, Glossoptosis, Micrognathia, Bilateral cleft lip, Ankyloglossia, Low-set ears OMIM:618021
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment OMIM:607842
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Zechi-Ceide Syndrome
Conductive hearing impairment, Abnormal helix morphology, Cleft palate, Microtia, Thin vermilion ... ORPHA:217017
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... OMIM:610947
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Lower limb amyotrophy, Knee flexion contracture, Tongue atrophy, Upper limb amyotrophy, Proximal ... ORPHA:496689
Distal Monosomy 15Q
Low-set ears, Congenital diaphragmatic hernia, Cleft palate, Abnormality of the dentition, Short ... ORPHA:1596
Fetal Akinesia Deformation Sequence 2
High palate, Flexion contracture, Cleft palate, Micrognathia, Tented upper lip vermilion, Low-set... OMIM:618388
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Abnormality of the ear, Cleft palate OMIM:183700
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration OMIM:601369
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment, Dentinogenesis imperfecta OMIM:166200
Myopathy, Congenital, Bailey-Bloch
High palate, Conductive hearing impairment, Cleft palate, Flexion contracture, Micrognathia, Down... OMIM:255995
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Low-set ears, Temporomandibular joint ankylosis, High, narrow palate, Micrognathia, ... ORPHA:2872
Chand Syndrome
Agenesis of maxillary incisor, Cleft palate, Agenesis of permanent teeth, Bifid tongue, Commissur... ORPHA:1401
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Coffin-Siris Syndrome 11
High palate, Wide mouth, Uplifted earlobe, Bifid uvula, Downturned corners of mouth, Esophageal a... OMIM:618779
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Diprosopus
External ear malformation, Cleft palate, Non-midline cleft lip ORPHA:1681
Braddock-Carey Syndrome 2
Wide mouth, Cleft palate, Retrognathia, Atresia of the external auditory canal, Pierre-Robin sequ... OMIM:619981
Lambotte Syndrome
Atresia of the external auditory canal, Macrotia, Semilobar holoprosencephaly OMIM:245552
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Protruding ear, Thin vermilion border, Short philtrum, Bifid uvula, Cerebellar hypoplasia, Deep p... OMIM:618622
Whistling Face Syndrome, Recessive Form
High palate, Narrow mouth, Micrognathia, Long philtrum, Camptodactyly, Whistling appearance, Elbo... OMIM:277720
Otofaciocervical Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, Atresia of the exte... ORPHA:2792
Burn-Mckeown Syndrome
Cleft upper lip, Conductive hearing impairment, Protruding ear, Narrow mouth, Cleft palate, Thin ... OMIM:608572
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Long philtrum, Bifid uvula OMIM:615942
Amyotrophy, Hereditary Neuralgic
Narrow mouth, Cleft palate, Axonal degeneration, Peripheral axonal degeneration, Brachial plexus ... OMIM:162100
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, Abnormal ... ORPHA:231169
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Holoprosencephaly, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cer... ORPHA:990
Autosomal Recessive Centronuclear Myopathy
High palate, Facial diplegia, Protruding ear, Narrow mouth, Hip contracture, Retrognathia, Left v... ORPHA:169186
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy OMIM:614876
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal antihelix morphology, High palate, Tooth malposition, Everted lower lip vermilion, Micro... ORPHA:1387
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Cleft palate, Abnormality of the dentition, Long philtrum, Bifid uvula, Dysphagia, T... ORPHA:576283
Viss Syndrome
High palate, Chronic gastritis, Broad uvula, Contracture of the proximal interphalangeal joint of... OMIM:619472
Crouzon Syndrome
Conductive hearing impairment, Hydrocephalus, Narrow palate, Cerebellar hypoplasia, Optic atrophy... ORPHA:207
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Conductive hearing impairment, Abnormal pinna morphology, Sensorineural hearing ... OMIM:214300
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Conductive hearing impairment, Dental malocclusion, Joint contracture of the hand, Stenosis of th... OMIM:608257
Osteopathia Striata-Cranial Sclerosis Syndrome
Conductive hearing impairment, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Fac... ORPHA:2780
Acrocallosal Syndrome
High palate, Wide mouth, Abnormal pinna morphology, Triangular mouth, Cleft palate, Short philtru... OMIM:200990
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Wide anterior fontanel OMIM:601356
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Opticocochleodentate Degeneration
Hearing impairment, Cochlear degeneration OMIM:258700
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Cleft palate, Macrotia OMIM:221950
17Q24.2 Microdeletion Syndrome
Otosclerosis, Tooth malposition, Microtia, Micrognathia, Short philtrum, Recurrent otitis media, ... ORPHA:529962
Genitopalatocardiac Syndrome
Cleft upper lip, Micrognathia, Low-set ears, Cleft palate OMIM:231060
Hypoglossia With Situs Inversus
High palate, Low-set ears, Narrow mouth, Hypodontia, Micrognathia, Microglossia OMIM:612776
Isolated Childhood Apraxia Of Speech
Overfolded helix, High, narrow palate, Submucous cleft hard palate ORPHA:209908
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Micrognathia, Microdontia, Widely spaced teeth,... OMIM:610706
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Hypertelorism-Microtia-Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia ORPHA:2213
Coxoauricular Syndrome
Atresia of the external auditory canal, Hearing impairment, Microtia ORPHA:1508
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, High palate, Cleft palate, Microtia, Overfolded helix, Cupped ear, Low-set ears OMIM:609654
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Atresia of the external auditory canal, Bilateral conductive hearing impairment, Oligodontia of p... ORPHA:2010
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Micrognathia, Cleft lip, Bro... ORPHA:398156
Isotretinoin-Like Syndrome
Hydrocephalus, Cleft palate, Microtia, Micrognathia, Anotia, Aplasia/Hypoplasia of the inner ear,... ORPHA:2306
Hydrolethalus
Hydrocephalus, Cleft palate, Retrognathia, Micrognathia, Gingival cleft, Anencephaly, Low-set, po... ORPHA:2189
Trisomy 8P
Conductive hearing impairment, Hydrocephalus, Multiple joint contractures, Cleft palate, Thin ver... ORPHA:264450
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Cleft palate, Everted lower lip vermilion, Microdontia, Dela... OMIM:619736
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Abnormality of the middle ear, Cleft palate, Microtia, Micrognathi... ORPHA:246
Moebius Syndrome
High palate, Facial diplegia, Abnormal pinna morphology, Abnormality of the dentition, Micrognath... OMIM:157900
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Conductive hearing impairment, Supernumerary tooth, Thin vermilion border, Overfolde... OMIM:617412
Emanuel Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Cleft palate, Delayed eruption of teeth,... ORPHA:96170
Robinow Syndrome, Autosomal Dominant 2
Sensorineural hearing impairment, Conductive hearing impairment, Wide mouth, Dental malocclusion,... OMIM:616331
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment OMIM:133705
Spondylometaphyseal Dysplasia, Schmidt Type
Gastroesophageal reflux, Stenosis of the external auditory canal, Micrognathia, Poor suck, Nasoga... ORPHA:93316
Distal Limb Deficiencies-Micrognathia Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, High palate, Narrow mouth, Micro... ORPHA:1307
Say Syndrome
Micrognathia, Cleft palate, Macrotia OMIM:181180
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Atresia of the external auditory canal, Hearing impairment, Aganglionic megacolon, Abnormal auton... OMIM:243180
Isotretinoin Syndrome
Abnormality of the outer ear, Micrognathia, Cleft palate, Microtia ORPHA:2305
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Small thena... OMIM:239800
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Gingival overgrowt... ORPHA:580
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Sensorineural hearing impairment, Feeding difficulties, Microtia, Stenosis of the external audito... OMIM:606164
Agnathia-Otocephaly Complex
Conductive hearing impairment, Narrow mouth, Cleft palate, Holoprosencephaly, Micrognathia, Aglos... OMIM:202650
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Narrow mouth, Cupped ear, Cleft palate ORPHA:93946
Stickler Syndrome, Type Ii
Sensorineural hearing impairment, High, narrow palate, Cleft palate, Bifid uvula, Pierre-Robin se... OMIM:604841
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Congenital Disorder Of Glycosylation, Type Id
High palate, Joint contracture of the hand, Flexion contracture, Bifid uvula, Optic atrophy, Vill... OMIM:601110
Epilepsy, Progressive Myoclonic, 9
Microglossia, Generalized amyotrophy OMIM:616540
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Sensorineural hearing impairment, Alveolar ridge overgrowth, Hydrocephalus, Cleft palate, Thin ve... OMIM:612938
Trehalase Deficiency
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:103909
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Hartnup Disorder
Glossitis OMIM:234500
Mitochondrial Neurogastrointestinal Encephalomyopathy
Sensorineural hearing impairment, Decreased number of large peripheral myelinated nerve fibers, G... ORPHA:298
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Protruding tongue, Open mouth, Mandibular prognathia, Smooth philtrum OMIM:618732
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Walker-Warburg Syndrome
Hydrocephalus, Protruding ear, Cleft palate, Muscular dystrophy, Abnormal cerebellar vermis morph... ORPHA:899
Larsen-Like Syndrome
Dental malocclusion, Conductive hearing impairment, Wide anterior fontanel, Cleft palate, Recurre... OMIM:608545
Meckel Syndrome, Type 8
Cleft upper lip, Low-set ears, Abdominal distention, Cleft palate OMIM:613885
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Sensorineural hearing impairment, High palate, Retrognathia, Cupped ear, Mixed hearing impairment... OMIM:300472
Cri-Du-Chat Syndrome
High palate, Abnormal pinna morphology, Microretrognathia, Gastroesophageal reflux, Stenosis of t... OMIM:123450
Split-Hand/Foot Malformation 1
Hearing impairment, Abnormal pinna morphology, Cleft palate OMIM:183600
Myasthenic Syndrome, Congenital, 10
Weakness of facial musculature, Tongue atrophy, Proximal amyotrophy, Distal amyotrophy OMIM:254300
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Low-set, posteriorly rotated ears, ... ORPHA:1488
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Congenital diaphragmatic hernia, Microtia, Tracheoesophageal fistula, Micrognathia... ORPHA:268249
Amish Lethal Microcephaly
Feeding difficulties, Micrognathia, Optic atrophy, Death in infancy, Cleft soft palate ORPHA:99742
Catel-Manzke Syndrome
High palate, Cleft upper lip, Abnormal pinna morphology, Cleft palate, Glossoptosis, Micrognathia... OMIM:616145
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malabsorption, Constipation, Abdominal distention, Abdominal pain, Malnutrition, Intestinal pseud... OMIM:613662
Zimmermann-Laband Syndrome
Sensorineural hearing impairment, Wide mouth, Large fleshy ears, High palate, Supernumerary tooth... ORPHA:3473
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Intestinal malrotation, Increased size of the mandible, Vomiting, Feeding d... OMIM:300048
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hydrocephalus, Ectopic anus, Nar... ORPHA:87
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Retrognathia, Micrognathia, Neonatal death, Microglossia OMIM:227270
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Fraser Syndrome 1
Myelomeningocele, Low-set ears, Abnormal pinna morphology, Hydrocephalus, Conductive hearing impa... OMIM:219000
Vacterl With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Retrognathia, Tracheoesophageal fistula, Microg... ORPHA:3412
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Abnormal cartilage matrix, Cleft palate, Abnormal cartilage morphology, L... ORPHA:2347
Developmental And Epileptic Encephalopathy 80
High palate, Uplifted earlobe, Abnormal pinna morphology, Wide mouth, Overfolded helix, Micrognat... OMIM:618580
Mucopolysaccharidosis Type 2, Severe Form
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Gingival overgrowt... ORPHA:217085
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Mucopolysaccharidosis Type 2, Attenuated Form
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Gingival overgrowt... ORPHA:217093
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Microtia, Atresia of the external auditory canal, ... ORPHA:2316
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... ORPHA:370968
Tarp Syndrome
High palate, Cleft palate, Microtia, Glossoptosis, Micrognathia, Cerebellar hypoplasia, Optic atr... OMIM:311900
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Microtia, Atresia of the external auditory canal, ... OMIM:147770
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal colic ORPHA:35122
Mucopolysaccharidosis Type 3
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Hydrocephalus, Conducti... ORPHA:581
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Ear-Patella-Short Stature Syndrome
Narrow mouth, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Camptodactyly of fin... ORPHA:2554
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria OMIM:614817
Zimmermann-Laband Syndrome 3
High palate, Gingival overgrowth, Flexion contracture, Bifid uvula, Thick lower lip vermilion OMIM:618658
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, High, narrow palate, Hypodontia, Glossoptosis, Camptodactyly of finger, Abnorm... ORPHA:3201
Fanconi Anemia, Complementation Group L
Anal atresia, Hydrocephalus, Cleft palate, Microtia, Tracheoesophageal fistula, Micrognathia, Ano... OMIM:614083
Beckwith-Wiedemann Syndrome
Diastasis recti, Posterior helix pit, Otosclerosis, Wide mouth, Wide anterior fontanel, Congenita... ORPHA:116
Solar Urticaria
Abnormal tongue morphology, Vertigo, Abnormal lip morphology ORPHA:97230
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Sensorineural hearing impairment, Cleft lip, Cleft palate OMIM:612370
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
High palate, Sensorineural hearing impairment, Abnormal pinna morphology, Cleft palate, Retrognat... ORPHA:52055
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Sweeney-Cox Syndrome
High palate, Anal atresia, Narrow mouth, Wide anterior fontanel, Cleft palate, Microtia, Overfold... OMIM:617746
Burning Mouth Syndrome
Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Strawberry to... ORPHA:353253
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Micrognathia, Lobulated tongue, Hamartoma of ... OMIM:258860
Acrofacial Dysostosis, Cincinnati Type
Cleft palate, Microtia, Retrognathia, Micrognathia, Anotia, Hypoplasia of the maxilla, Macrotia OMIM:616462
Verloove Vanhorick-Brubakk Syndrome
Cleft palate, Microtia, Micrognathia, Atresia of the external auditory canal, Non-midline cleft l... ORPHA:3429
Preeclampsia
Elevated circulating creatinine concentration, Type I diabetes mellitus ORPHA:275555
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Tracheoes... ORPHA:861
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... ORPHA:103907
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Pallister-Hall-Like Syndrome
Cleft palate, Micrognathia, Death in infancy, Median cleft lip, Hip dislocation, Microglossia OMIM:241800
Bresek Syndrome
Hydrocephalus, Protruding ear, Cleft palate, Optic nerve hypoplasia, Neonatal death, Hearing impa... ORPHA:85284
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Narrow mouth, Cleft palate, Feeding difficulties, Micrognathia, Short philtrum, Bifi... ORPHA:96184
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia OMIM:617744
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Posteriorly rotated ears, Protruding tongue, Macrotia, ... OMIM:618106
Acrootoocular Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Pseudopapilledema, Atresia of th... ORPHA:2980
Benign Schwannoma
Facial palsy, Vestibular schwannoma, Abnormality of the twelfth cranial nerve, Abnormal esophagus... ORPHA:252164
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Oral mucosal blisters, Microtia, Neonatal death, Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Overfolded helix, Abnormal antitragus morphology, Abnormality o... ORPHA:2759
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Abnormal pinna morphology, Abnormality of the dentition, Camptodac... ORPHA:178303
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Microtia, Bifid uvula, Low-set ears, Posteriorly rotat... OMIM:619314
Distal Monosomy 10Q
High palate, Anal atresia, Protruding ear, Cochlear malformation, Congenital sensorineural hearin... ORPHA:96148
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... ORPHA:206443
Neu-Laxova Syndrome
Trismus, Cleft palate, Everted lower lip vermilion, Retrognathia, Micrognathia, Flexion contractu... ORPHA:2671
15Q Overgrowth Syndrome
High palate, Hydrocephalus, Microretrognathia, High, narrow palate, Dandy-Walker malformation, Re... ORPHA:314585
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Tympanosclerosis, Malabsorption, Atrophic gastritis, Enamel hypoplasia OMIM:240300
Pendred Syndrome
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... ORPHA:705
Osteopathia Striata With Cranial Sclerosis
High palate, Hydrocephalus, Cleft palate, Overfolded helix, Thick lower lip vermilion, Cleft uppe... OMIM:300373
Raine Syndrome
High palate, Wide mouth, Hydrocephalus, Abnormal pinna morphology, Protruding ear, Gingival overg... OMIM:259775
Nager Syndrome
Wide mouth, Cleft palate, Microtia, Micrognathia, Low-set, posteriorly rotated ears, Hypoplasia o... ORPHA:245
Cleidocranial Dysplasia
Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glossoptosis, Abnormality of t... ORPHA:1452
Cree Mental Retardation Syndrome
Micrognathia, Low-set ears, Posteriorly rotated ears, Cleft soft palate OMIM:606851
Bifid Uvula
Cleft lip, Submucous cleft soft palate, Bifid uvula ORPHA:99771
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Optic nerve hypoplasia, Low-set ears, Posteri... OMIM:607597
Cerebrocostomandibular Syndrome
Myelomeningocele, Conductive hearing impairment, Cleft palate, Glossoptosis, Micrognathia, Short ... ORPHA:1393
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Aplasia/Hypoplasia of the tongue, Cleft palate, Maxillozygomatic hypoplasia, Bifid ... ORPHA:1790
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula, Recurrent otitis media OMIM:601492
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Feeding difficulties, Intestinal malrotation, Micrognathia, Long philtrum, Bifid uv... ORPHA:404440
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe, Genu valg... OMIM:300602
Birk-Barel Syndrome
High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula, Tented upper lip vermilion... OMIM:612292
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Median cleft lip OMIM:155145
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Wide anterior fontanel, Contracture of the proximal interphalangeal joint of the 4th... ORPHA:457279
Brown-Vialetto-Van Laere Syndrome 1
Sensorineural hearing impairment, Abnormal cerebellum morphology, Facial palsy, Hand muscle atrop... OMIM:211530
Chromosome 18Q Deletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Cleft upper lip, U-Shaped upper ... OMIM:601808
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Hearing impairment, Bifid uvula, Cleft palate OMIM:300958
Oculofaciocardiodental Syndrome
Sensorineural hearing impairment, Tooth malposition, Cleft palate, Intestinal malrotation, Abnorm... ORPHA:2712
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Hydrocephalus, High, narrow palate, Cupped ear, Long philtrum, Anteriorly placed anu... OMIM:612863
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Underdeveloped antitragus, Retrognathia, Short philtrum, Prominent antihelix, Smooth philtrum, Po... ORPHA:293725
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Facial hypotonia, Protruding ear, Lower limb hypertonia, Flexion contracture, Microg... OMIM:300534
Schilbach-Rott Syndrome
Narrow mouth, Microtia, Bifid uvula, Posteriorly rotated ears, Submucous cleft hard palate OMIM:164220
Spinocerebellar Ataxia 36
Tongue fasciculations, Cerebellar atrophy, Tongue atrophy, Dysphagia, Hearing impairment, Skeleta... OMIM:614153
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue, Facial palsy ORPHA:2743
Puerto Rican Infant Hypotonia Syndrome
High palate, Narrow palate, Abdominal distention, Constipation, Long philtrum, Open mouth, Chroni... OMIM:600096
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Conductive hearing impairment, Micrognathia, Cleft palate OMIM:601076
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Diarrhea, Long philtrum, Vomiting, Neonatal death... OMIM:608104
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria OMIM:615605
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Atresia of the external auditory canal, Low-set, posteriorly rotated ears, Umbilical hernia, Micr... ORPHA:1770
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Microdonti... OMIM:129400
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe, Genu valg... OMIM:300431
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Cleft palate, Abnormal Eustachian tube morphology, Micrognathia, Hy... ORPHA:513456
Down Syndrome
Conductive hearing impairment, Anal atresia, Narrow mouth, Narrow palate, Macroglossia, Abnormali... ORPHA:870
Peroxisome Biogenesis Disorder 1A (Zellweger)
Sensorineural hearing impairment, Low-set ears, High palate, Wide anterior fontanel, Abnormal hel... OMIM:214100
Monosomy 9P
Abnormal antihelix morphology, High palate, Narrow mouth, Congenital diaphragmatic hernia, Cleft ... ORPHA:261112
Carey-Fineman-Ziter Syndrome 1
Sensorineural hearing impairment, High palate, Hypoplasia of the brainstem, Hypoplasia of the mus... OMIM:254940
Desmosterolosis
Large earlobe, Hydrocephalus, Narrow mouth, Cleft palate, Intestinal malrotation, Retrognathia, M... ORPHA:35107
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Elevated circulating creatinine concentration OMIM:616733
Aase-Smith Syndrome I
Abnormal pinna morphology, Flexion contracture, Cleft palate, Open mouth OMIM:147800
Generalized Arterial Calcification Of Infancy
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Calcification ... ORPHA:51608
Orofaciodigital Syndrome Type 3
Abnormality of the dentition, Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular denti... ORPHA:2752
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Icf Syndrome
Malabsorption, Macroglossia, Micrognathia, Communicating hydrocephalus, Protruding tongue, Umbili... ORPHA:2268
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Anal atresia, Abdominal distention, Intestinal malrotation, Optic disc coloboma, Low-set ears, Re... OMIM:270420
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Bifid uvula, Spinal dysraphism, Incomplete partition of the coc... OMIM:617660
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Delayed ossification of carpal bones, Glossoptosis, Micrognathia, Carious teeth, Hearing impairment ORPHA:93346
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Atresia of the external auditory canal, Hearing impairment, Low-set ears, Pseudopapilledema OMIM:264475
Spinocerebellar Ataxia Type 36
Loss of Purkinje cells in the cerebellar vermis, Tongue fasciculations, Tongue atrophy, Dysphagia... ORPHA:276198
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Meckel Syndrome 12
Micrognathia, Bifid uvula, Cerebellar hypoplasia, Arthrogryposis multiplex congenita, Low-set ears OMIM:616258
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Protruding ear, Glossoptosis, Low-set, posteriorly rotated ears, Hearing abnormality, Meningocele ORPHA:2031
Megalocornea-Mental Retardation Syndrome
Large fleshy ears, High palate, Micrognathia, Cupped ear, Long philtrum, Bifid uvula, Dysphagia OMIM:249310
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Hand muscle weakness, Flex... ORPHA:101085
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Cleft palate, Microtia, Overfolded helix, Glossoptosis, Micrognathia, Wrist ... ORPHA:436003
Anophthalmia Plus Syndrome
Cleft palate, Low-set, posteriorly rotated ears, Bilateral cleft lip and palate, Non-midline clef... ORPHA:1104
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, N... ORPHA:794
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Pelvis-Shoulder Dysplasia
Thick anterior alveolar ridges, Abnormal pinna morphology, Hydrocephalus, Cleft palate, Microtia,... ORPHA:2839
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital sensorineural hearing impairment, Protruding ear, Feeding difficulties, Micrognathia, ... ORPHA:293967
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Unilateral cleft lip, Darwin tubercle of helix, Unilateral cleft palate, Scapular w... OMIM:619122
Gorham-Stout Disease
Torticollis, Mandibular pain, Chiari type I malformation, Abnormality of the internal auditory ca... ORPHA:73
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate ORPHA:2736
Pontocerebellar Hypoplasia, Type 1B
Flexion contracture, Tongue atrophy, Hip dislocation, Tongue fasciculations, Skeletal muscle atrophy OMIM:614678
Marshall-Smith Syndrome
Conductive hearing impairment, Gingival overgrowth, Retrognathia, Cerebellar hypoplasia, Optic at... ORPHA:561
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Macroglossia, Dysgenesis of the cerebellar vermis, Optic ... OMIM:213300
Orofaciodigital Syndrome Type 4
Abnormality of the ear, Abnormality of the tongue, Cleft palate, Short philtrum, Oral synechia, M... ORPHA:2753
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
White-Sutton Syndrome
Sensorineural hearing impairment, High palate, Gastroesophageal reflux, Constipation, Feeding dif... OMIM:616364
Stickler Syndrome, Type I
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Micrognathia, Bifi... OMIM:108300
Congenital Pancreatic Cyst
Anorexia, Abdominal distention, Vomiting, Abdominal pain ORPHA:313906
Native American Myopathy
High palate, Conductive hearing impairment, Muscle fiber atrophy, Cleft palate, Micrognathia, Sub... ORPHA:168572
Diamond-Blackfan Anemia 11
Stenosis of the external auditory canal, Atresia of the external auditory canal OMIM:614900
Moebius Syndrome
High palate, Tooth agenesis, Aplasia/Hypoplasia of the tongue, Cleft palate, Everted lower lip ve... ORPHA:570
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Otopalatodigital Syndrome Type 2
Myelomeningocele, Anodontia, Abnormal pinna morphology, Hydrocephalus, Narrow mouth, Cleft palate... ORPHA:90652
Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Enlarged joints, Cleft palate, Glossoptosis, Micrognathia, Oste... ORPHA:1427
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Wide mouth, Abnormality of the dentition, Bifid uvula, Enamel hypoplasia, Prominent antihelix, Ce... OMIM:615802
Dubowitz Syndrome
Abnormal antihelix morphology, High palate, Hydrocephalus, Protruding ear, Wide mouth, Malabsorpt... ORPHA:235
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Sensorineural hearing impairment, Aplasia of the inner ear, Supernumerary tooth, Hypodontia, Micr... ORPHA:90024
Juvenile Sialidosis Type 2
Low-set ears, Gingival overgrowth, Optic atrophy, Protruding tongue, Umbilical hernia, Dysphagia,... ORPHA:93399
Isolated Polycystic Liver Disease
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Feeding difficulties in infancy, G... ORPHA:2924
Hypomandibular Faciocranial Dysostosis
Pursed lips, Coronal craniosynostosis, Micrognathia, Aglossia, Hypoplasia of the maxilla OMIM:241310
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Adult Krabbe Disease
Broad-based gait, Ataxia, EEG abnormality, Gait disturbance, Prolonged brainstem auditory evoked ... ORPHA:206448
Folinic Acid-Responsive Seizures
Optic atrophy, Sensorineural hearing impairment, Abdominal distention ORPHA:79097
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Sensorineural hearing impairment, Conductive hearing impairment, Narrow mouth, Overfolded helix, ... OMIM:300990
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Wide anterior fontanel, Gastroesophageal reflux, Cleft palate, Long phil... OMIM:607812
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Furrowed tongue ORPHA:2928
Meier-Gorlin Syndrome 5
Gastroesophageal reflux, Feeding difficulties, Microtia, Micrognathia, Long philtrum, Small earlo... OMIM:613805
Branchiooculofacial Syndrome
Malrotation of colon, Cleft palate, Overfolded helix, Abnormality of the dentition, Pyloric steno... OMIM:113620
Orofaciodigital Syndrome Type 6
High palate, Conductive hearing impairment, Cleft palate, Micrognathia, Low-set, posteriorly rota... ORPHA:2754
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Unilateral cleft palate, Unilateral cleft lip, Cerebellar atrophy, Mandibular prognat... OMIM:619103
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin vermilion border, Micrognathia, Long philtrum, Bifid uvula, Low-set ears, Posteriorly rotate... OMIM:241410
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Dysphagia, Tongue atrophy ORPHA:216873
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Microvillus inclusio... OMIM:619445
Limb-Mammary Syndrome
Joint contracture of the hand, Hypodontia, Cleft palate, Bifid uvula, Camptodactyly OMIM:603543
Arthrogryposis, Distal, Type 5D
Cleft palate, Micrognathia, Camptodactyly, Furrowed tongue, Elbow flexion contracture, Arthrogryp... OMIM:615065
Hyperphosphatasia-Intellectual Disability Syndrome
High palate, Aganglionic megacolon, Micrognathia, Cupped ear, Short philtrum, Bifid uvula, Downtu... ORPHA:247262
Mcdonough Syndrome
Diastasis recti, Dental malocclusion, Micrognathia, Short philtrum, Furrowed tongue, Mandibular p... OMIM:248950
Pai Syndrome
Abnormal oral frenulum morphology, Median cleft lip, Bifid uvula, Cleft palate ORPHA:1993
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Atresia of the external auditory canal, Conductive hearing impairment OMIM:602471
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Retrognathia, Tracheoesophageal fistula, Spina bifida occulta, Low-set ears, Es... OMIM:619227
Marden-Walker Syndrome
Hydrocephalus, Narrow mouth, Cleft palate, Retrognathia, Micrognathia, Muscular dystrophy, Campto... ORPHA:2461
Arthrogryposis, Distal, Type 3
High palate, Cleft palate, Camptodactyly of toe, Camptodactyly of finger, Bifid uvula, Distal art... OMIM:114300
Temple Syndrome
Polyphagia, Bifid uvula ORPHA:254516
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Flexion contracture of finger, Proximal muscle weakness in lower... ORPHA:466768
Mandibulofacial Dysostosis, Guion-Almeida Type
Conductive hearing impairment, Microtia, Overfolded helix, Atresia of the external auditory canal... OMIM:610536
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Anal atresia, Ectopic anus, Micrognathia, Bifid tongue, Long philtrum, Esophagea... ORPHA:93271
Diamond-Blackfan Anemia 10
Low-set ears, Conductive hearing impairment, Congenital diaphragmatic hernia, Cleft palate, Micro... OMIM:613309
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Sensorineural hearing impairment, Micrognathia, Cleft palate, Glossoptosis ORPHA:440354
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Underfolded helix, Mandib... OMIM:263540
Crouzon Syndrome
Optic atrophy, Conductive hearing impairment, Atresia of the external auditory canal OMIM:123500
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Ataxia, Abnormal autonomic nervous system physiology, Dysmetria... ORPHA:99027
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Abnormal pinna morphology, Persistence of primary teeth, Macrogloss... OMIM:610253
Loeys-Dietz Syndrome 5
High palate, Hiatus hernia, Cleft palate, Eosinophilic infiltration of the esophagus, Overfolded ... OMIM:615582
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conductive hearing impairment, Protruding ear, Hypodontia, Cleft palate, Micrognathia, Submucous ... ORPHA:1071
Athyreosis
Abdominal distention, Macroglossia, Constipation, Feeding difficulties ORPHA:95713
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Sensorineural hearing impairment, High palate, Long upper lip, Cleft palate, Everted lower lip ve... OMIM:608670
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Hypodontia, Joint contracture of the hand, Camptodactyly of fin... OMIM:612350
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Overfolded helix, Contractures of the large joints, Protruding tongu... ORPHA:324410
Frontometaphyseal Dysplasia
Sensorineural hearing impairment, Conductive hearing impairment, Hypoplasia of the musculature, I... ORPHA:1826
Short-Rib Thoracic Dysplasia 12
Abnormal pinna morphology, Hydrocephalus, Holoprosencephaly, Intestinal malrotation, Anencephaly,... OMIM:269860
Cardiofaciocutaneous Syndrome 1
High palate, Constipation, Abnormality of the dentition, Vomiting, Optic nerve dysplasia, Open mo... OMIM:115150
Congenital Sialidosis Type 2
Gingival overgrowth, Hydrocephalus, Optic atrophy, Hearing impairment, Protruding tongue, Umbilic... ORPHA:93400
Thalidomide Embryopathy
Abnormality of the outer ear, Hearing impairment, Anotia ORPHA:3312
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip vermilion, Prominent... ORPHA:364577
Cousin Syndrome
Alveolar ridge overgrowth, Hydrocephalus, Joint contracture of the hand, Cleft palate, Microtia, ... OMIM:260660
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... OMIM:193250
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Qazi-Markouizos Syndrome
Abdominal distention, High, narrow palate, Open mouth, Hypoplasia of teeth, Broad philtrum, Chron... ORPHA:3010
Lipoid Proteinosis
High palate, Abnormal oral mucosa morphology, Tongue nodules, Microglossia, Thick lower lip vermi... ORPHA:530
Holoprosencephaly 13, X-Linked
Duodenal atresia, Alobar holoprosencephaly, Median cleft palate, Cleft palate, Microtia, Microgna... OMIM:301043
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Cerebrocostomandibular Syndrome
High palate, Conductive hearing impairment, Glossoptosis, Abnormality of the dentition, Micrognat... OMIM:117650
Congenital Disorder Of Glycosylation, Type Iie
Abnormal pinna morphology, Narrow mouth, Retrognathia, Micrognathia, Hearing impairment, Protrudi... OMIM:608779
Congenital Disorder Of Glycosylation, Type Iia
Sensorineural hearing impairment, Wide mouth, Gingival overgrowth, Everted lower lip vermilion, O... OMIM:212066
Atresia Of Small Intestine
Abdominal distention, Feeding difficulties, Intestinal malrotation, Vomiting, Intestinal hypoplas... ORPHA:1201
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Esophageal atresia, Smooth philtrum, Cleft soft palate OMIM:614526
Carey-Fineman-Ziter Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, Thin vermilion border,... ORPHA:1358
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Abnormal helix morphology, Cleft palate, Macroglossia, Open mouth, Abnormal autonomi... ORPHA:453499
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Treacher Collins Syndrome 1
Conductive hearing impairment, Wide mouth, Narrow mouth, Hypoplasia of the pharynx, Cleft palate,... OMIM:154500
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Marshall-Smith Syndrome
High palate, Hydrocephalus, Overfolded helix, Eclabion, Short philtrum, Bilateral conductive hear... OMIM:602535
Kapur-Toriello Syndrome
Atresia of the external auditory canal, Low-set ears, Posteriorly rotated ears ORPHA:2328
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Alveolar ridge overgrowth, Abdominal distention, Cleft palate, Hepatic failure, Micr... OMIM:235255
Cohen Syndrome
Sensorineural hearing impairment, Gingival overgrowth, Tooth agenesis, Aplasia/Hypoplasia of the ... ORPHA:193
Craniofacial Microsomia
Sensorineural hearing impairment, Conductive hearing impairment, Hydrocephalus, Wide mouth, Cleft... OMIM:164210
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Downturned corners of mouth, Recurrent otitis media, Thin upper lip vermilion, Poste... OMIM:619680
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Macroglossia, Micrognathia, Protruding tongue, Low-set ears OMIM:242860
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abdominal distention, Death in infancy, Feeding difficulties, Hepatic failure OMIM:618528
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529799
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cerebellar atrophy, Decreased nerve conduction velocity, Cleft palate OMIM:618356
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hypoalbuminemia, Abnormal auditory evoked potent... ORPHA:529808
Marshall Syndrome
Sensorineural hearing impairment, Thick upper lip vermilion, Macrodontia of permanent maxillary c... OMIM:154780
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Congenital sensorineural hearing impairment, Wide mouth, Congenita... OMIM:157800
Tarp Syndrome
Abnormal antihelix morphology, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Micrognathi... ORPHA:2886
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Cochlear degeneration, Hearing impairment, Proximal amyot... ORPHA:95433