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Gene: Tshz1 MGI:1346031

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

teashirt zinc finger family member 1

Synonyms:

NY-CO-33, Sdccag33, Tsh1, 5730407I04Rik, D18Bwg1409e, Mtsh1, teashirt1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tshz1 mutations

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

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

Human diseases associated with Tshz1 (1 diseases)
Human diseases predicted to be associated with Tshz1 (723 diseases)

The table below shows human diseases associated to Tshz1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Aural Atresia, Congenital		Conductive hearing impairment, Atresia of the external auditory canal	OMIM:607842

The table below shows human diseases predicted to be associated to Tshz1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis	OMIM:613702
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalan...	ORPHA:1436
Klippel-Feil Syndrome 2, Autosomal Recessive	Conductive hearing impairment, Cleft upper lip, Sensorineural hearing impairment, Cervical C2/C3 ...	OMIM:214300
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Short neck, Absent phalangeal crease, Fused thoracic vertebrae, Antecubital pterygium, Tarsal syn...	OMIM:618469
Christian Syndrome	Thoracic hemivertebrae, Prominent metopic ridge, Scoliosis, Short middle phalanx of finger, Fused...	OMIM:309620
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Toe syndactyly, Conductive hearing impairment, Broad hallux, Stap...	OMIM:184460
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Hearing impairment, Abnormal shoulder morphology, Cervical C...	ORPHA:2345
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Brachydactyly, Proximal symphal...	OMIM:610017
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Low-set ears, Long philtrum, Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Thin upper li...	OMIM:616549
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Short distal phalanx of the thumb, Broad thumb, Short 3rd metacar...	ORPHA:370010
Klippel-Feil Syndrome 1, Autosomal Dominant	Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Cervical C2/...	OMIM:118100
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals	OMIM:269630
Mucopolysaccharidosis, Type Ix	Bifid uvula, Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Ankle pain, Wris...	OMIM:601492
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Spondylocostal Dysostosis 5	Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary ribs, Hemivertebrae, ...	OMIM:122600
Fibrodysplasia Ossificans Progressiva	Conductive hearing impairment, Broad femoral neck, Small cervical vertebral bodies, Short 1st met...	OMIM:135100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormal dental morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis...	ORPHA:2522
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Perching Syndrome	Respiratory distress, Dysphagia, Joint contracture, Camptodactyly, High palate, Scoliosis	OMIM:617055
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Hearing...	ORPHA:485
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Hearing impairment, Partial fusion of carpals, Carpal synostosis, Ge...	OMIM:305620
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Sensorineural hearing impairment, Aplasia/Hypopl...	ORPHA:3320
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Motor stereotypy, Death in infancy	OMIM:616341
Lethal Osteosclerotic Bone Dysplasia	Low-set ears, Delayed cranial suture closure, Respiratory distress, Gingival overgrowth, Median c...	ORPHA:1832
Arthrogryposis, Distal, Type 1C	Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow...	OMIM:619110
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Downturned corners of mouth, Pica, Lumbar hyperlordosis, Asymmetry of the ears, Ope...	OMIM:617796
Carey-Fineman-Ziter Syndrome 2	Low-set ears, High, narrow palate, Dental crowding, Velopharyngeal insufficiency, Downturned corn...	OMIM:619941
Kbg Syndrome	Bilateral conductive hearing impairment, Widely-spaced maxillary central incisors, Persistent ope...	ORPHA:2332
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Low-set ears, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Abnormal l...	ORPHA:2759
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Low-set ears, Downturned corners of mouth, Long philtrum, Narrow mouth, Joint hypermobility, Cerv...	OMIM:617333
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Bifid uvula, Conductive hearing impairment, Broad hallux, Abnormal thumb morphology, Bifid distal...	ORPHA:2669
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Knee dislocation, Shoulder dislocation, Thoracic scoliosis, Cervical C2/C3 vertebral ...	OMIM:618000
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Dysplastic patella...	OMIM:265000
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ...	ORPHA:3216
Atelosteogenesis, Type I	Low-set ears, Radial bowing, Elbow dislocation, Fibular aplasia, Neonatal death, Short neck, Apla...	OMIM:108720
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Narrow pelvis bone, Abno...	ORPHA:66637
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Clinodactyly, Widely spaced teeth, Respiratory distress, Wide mouth, Scoliosis...	OMIM:300934
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A...	OMIM:113000
Chromosome 8Q22.1 Duplication Syndrome	Genu recurvatum, Broad thumb, Limitation of joint mobility, Interphalangeal joint contracture of ...	OMIM:151200
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Hearing impairment, Elbow dislocation...	ORPHA:90650
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy	OMIM:254120
Sifrim-Hitz-Weiss Syndrome	Low-set ears, Bifid uvula, Cupped ear, Hearing impairment, Anteriorly placed anus, Short clavicle...	OMIM:617159
Multiple Synostoses Syndrome 1	Bilateral conductive hearing impairment, Carpal synostosis, Thick upper lip vermilion, Cutaneous ...	OMIM:186500
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Thick vermilion border, Motor stereotypy, Fused cervical vertebrae, Hyp...	ORPHA:530983
Auriculocondylar Syndrome 2A	Low-set ears, Mandibular condyle aplasia, Microglossia, Cleft at the superior portion of the pinn...	OMIM:614669
Wildervanck Syndrome	Short neck, Fused cervical vertebrae	ORPHA:3456
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Velopharyngeal insufficiency, Stapes ankylosis, Long philtrum, Intestinal malrotati...	OMIM:614701
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Hearing impairment...	ORPHA:1826
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormal form of the vertebral bodies, Elbow dislocation, Abn...	ORPHA:2916
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid uvula, Short distal phalanx of the thumb, Hearing impairment, Bifid distal phalanx of the t...	OMIM:256200
Distal Deletion 17Q	Small hand, Deviation of finger, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the...	ORPHA:1597
Fetal Akinesia Deformation Sequence 4	Low-set ears, Arthrogryposis multiplex congenita, 11 pairs of ribs, Prenatal death, Neonatal deat...	OMIM:618393
Robin Sequence With Cleft Mandible And Limb Anomalies	Low-set ears, Short tibia, Narrow mouth, Short hallux, High palate, Short metacarpal, Hip disloca...	OMIM:268305
Succinic Acidemia	Respiratory distress	OMIM:600335
Stuve-Wiedemann Syndrome 2	Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Dysphagia	OMIM:619751
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Narrow palate, Exaggerated median tongue furrow, Dental crowding, Lumbar...	ORPHA:313892
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Low-set ears, Butterfly vertebrae, Submucous cleft hard palate, Attention deficit hyperactivity d...	OMIM:619227
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra...	OMIM:156550
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect	ORPHA:2956
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Bifid uvula, Aplasia of the distal phalanx of the 5th toe, Kyphos...	OMIM:618658
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Short neck, Everted lower lip vermilion, Short foot, Abnormal pinn...	ORPHA:915
Hypertelorism, Microtia, Facial Clefting Syndrome	Abnormal vertebral morphology, Short 5th finger, Conductive hearing impairment, Atresia of the ex...	OMIM:239800
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Bilateral conductive hearing impairment, Absent stapes head, Abnormality of the malleus, Congenit...	OMIM:128980
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Symphalangism, Proximal, 1A	Conductive hearing impairment, Distal symphalangism of hands, Stapes ankylosis, Aplasia/Hypoplasi...	OMIM:185800
Chromosome 22Q11.2 Duplication Syndrome	Low-set ears, Velopharyngeal insufficiency, Abnormal pinna morphology, High palate	OMIM:608363
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis	OMIM:616566
Verloove Vanhorick-Brubakk Syndrome	Low-set ears, Abnormal pelvic girdle bone morphology, Atresia of the external auditory canal, Abn...	ORPHA:3429
Multiple Pterygium Syndrome, X-Linked	Low-set ears, Thin ribs, Joint dislocation, Cleft upper lip, Short finger, Increased susceptibili...	OMIM:312150
Deafness-Ear Malformation-Facial Palsy Syndrome	Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A...	ORPHA:3232
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Thin upper lip vermilion, Short...	ORPHA:2015
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Hearing impairment, Abnormal palate morphology	ORPHA:2291
Frontometaphyseal Dysplasia 2	Low-set ears, Broad thumb, Hip contracture, Sensorineural hearing impairment, High palate, Disloc...	OMIM:617137
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Low-set ears, Hearing impairment, Carpal synostosis, Cutaneous finger syndactyly, Hip contracture...	OMIM:178110
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Abnormality of the ankle, Bilateral conductive hearing impairment, Atresia of the external audito...	ORPHA:2010
Shashi-Pena Syndrome	Low-set ears, Cupped ear, Cervical C2/C3 vertebral fusion, Thin upper lip vermilion, Short metaca...	OMIM:617190
Smith-Magenis Syndrome	Abnormality of the outer ear, Abnormality of the dentition, Head-banging, Hearing impairment, Vel...	OMIM:182290
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Spastic Paraplegia 81, Autosomal Recessive	Bifid uvula, Ankle clonus, Cleft palate, Sensorineural hearing impairment	OMIM:618768
Cooper-Jabs Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Anteriorly placed anus, Ca...	ORPHA:1488
Apert Syndrome	Bifid uvula, Toe syndactyly, Conductive hearing impairment, Finger syndactyly, Broad thumb, Delay...	ORPHA:87
Multiple Pterygium Syndrome, Lethal Type	Low-set ears, Thin ribs, Joint dislocation, Short finger, Increased susceptibility to fractures, ...	OMIM:253290
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Conductive hearing impairment, Atresia of the external auditory canal, Flar...	OMIM:602471
Spondyloepiphyseal Dysplasia Congenita	Hypoplasia of the odontoid process, Hearing impairment, Limited hip movement, Delayed pubic bone ...	OMIM:183900
Apert Syndrome	Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal b...	OMIM:101200
Stickler Syndrome, Type I	Platyspondyly, Abnormal femoral epiphysis morphology, Bifid uvula, Conductive hearing impairment,...	OMIM:108300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Short long bone, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger...	OMIM:244600
Adducted Thumbs Syndrome	High, narrow palate, Velopharyngeal insufficiency, Dysphagia, Craniosynostosis, High palate, Arth...	OMIM:201550
Craniofacial Microsomia 2	Bifid uvula, Microtia, first degree, Microtia, third degree, Microtia, second degree, Submucous c...	OMIM:620444
Temple Syndrome	Bifid uvula, Small hand, Clinodactyly, Recurrent otitis media, Joint hypermobility, Short philtru...	OMIM:616222
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ...	OMIM:184260
Moebius Syndrome	Bifid uvula, Abnormal pelvic girdle bone morphology, Abnormality of the dentition, Clinodactyly, ...	OMIM:157900
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Respiratory distress, Dysphagia, High palate, Scoliosis, Cleft palate	OMIM:614399
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Low-set ears, Cone-shaped epiphysis, Respiratory distress, Horizontal ribs, Aplasia of the epiglo...	OMIM:617088
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Microglossia, Respiratory distress, Dyspnea, Cleft palate	ORPHA:141152
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Low-set ears, Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovo...	OMIM:151210
Mosaic Trisomy 20	Craniofacial asymmetry, Cleft lip, Hearing impairment, Clinodactyly, Spinal canal stenosis, Verte...	ORPHA:1724
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Respiratory distress, Broad ribs, Osteomyelitis, Joint swelling, Flaring of rib cage,...	OMIM:612852
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:254210
Acrocraniofacial Dysostosis	Broad thumb, Genu valgum, Sensorineural hearing impairment, Abnormality of the malleus, Abnormal ...	ORPHA:949
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Abnormality of the outer ear, Absent tragus, Conductive hearing impairment, Atresia...	ORPHA:79113
Lateral Meningocele Syndrome	Low-set ears, High, narrow palate, Conductive hearing impairment, Abnormal form of the vertebral ...	ORPHA:2789
Orofaciodigital Syndrome Iii	Low-set ears, Bifid uvula, Postaxial foot polydactyly, Tongue nodules, Microdontia, Short sternum...	OMIM:258850
Otofaciocervical Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Delayed skeletal maturatio...	ORPHA:2792
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Orofacial cleft, Triphalan...	OMIM:141400
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Elbow dislocation, Abnorma...	ORPHA:3236
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, Small hand, Clinodactyly, Recurrent otitis media, Narrow mouth, Joint hypermobility,...	ORPHA:96184
Thakker-Donnai Syndrome	Downturned corners of mouth, Narrow mouth, Cervical C2/C3 vertebral fusion, Short neck, Tracheoes...	ORPHA:1780
Fanconi Anemia, Complementation Group I	Conductive hearing impairment, Short 1st metacarpal, Absent thumb, Short thumb, Short neck, Hypop...	OMIM:609053
Satb2-Associated Syndrome Due To A Pathogenic Variant	Bifid uvula, Osteopenia, Broad thumb, Abnormality of the dentition, Celiac disease, Long philtrum...	ORPHA:576283
Acrootoocular Syndrome	Low-set ears, Atresia of the external auditory canal, Abnormal earlobe morphology, Sensorineural ...	ORPHA:2980
Deafness, Conductive, With Malformed External Ear	Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormal pin...	OMIM:221300
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Short neck, Hip dislocation, Macrotia, Short toe, Cervical C5/C6 vertebrae fusion, ...	OMIM:613458
Kleefstra Syndrome 2	Self-injurious behavior, Bifid uvula, Everted lower lip vermilion, Scoliosis, Kyphosis	OMIM:617768
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Diaphyseal undertubul...	OMIM:620663
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Flattened epiphysis, High palate, Dislocated radial head, Short me...	OMIM:612350
Odontochondrodysplasia	Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Delayed erup...	ORPHA:166272
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Cleft Lip/Palate	Conductive hearing impairment, Velopharyngeal insufficiency, Dental malocclusion, Palate fistula,...	ORPHA:199306
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Lateral Meningocele Syndrome	Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Dental crowd...	OMIM:130720
ERI1-related disease	Low-set ears, Velopharyngeal insufficiency, Patellar dislocation, Finger joint hypermobility, Hig...	OMIM:608739
Branchiogenic Deafness Syndrome	Short distal phalanx of finger, Conductive hearing impairment, Atresia of the external auditory c...	ORPHA:50815
Cri-Du-Chat Syndrome	Low-set ears, Hearing impairment, Overfriendliness, Short neck, High palate, Motor stereotypy, Sh...	OMIM:123450
Cardiospondylocarpofacial Syndrome	Low-set ears, Carpal synostosis, Recurrent otitis media, Enlarged vestibular aqueduct, Tarsal syn...	OMIM:157800
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Hearing impairment, Aplasia/Hypoplasia of the u...	ORPHA:2496
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:605809
Cardiocranial Syndrome, Pfeiffer Type	Low-set ears, Slender finger, High, narrow palate, Cutaneous syndactyly of toes, Bifid uvula, Con...	ORPHA:2872
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Bifid uvula, Arthrogryposis multiplex congenita, Tented upper lip vermilion, Death in infancy, Pr...	OMIM:618622
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Bifid uvula, Hearing impairment, Cleft upper lip, Aggressive behavior, Hyperactivity, Scoliosis, ...	OMIM:300958
Achondroplasia	Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Femo...	OMIM:100800
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S...	OMIM:272460
Arnold-Chiari Malformation Type I	Functional abnormality of the inner ear, Vertigo, Stiff neck, Cervical C2/C3 vertebral fusion, Ti...	ORPHA:268882
Koolen-De Vries Syndrome	High, narrow palate, Abnormality of the dentition, Hip dislocation, Abnormal dental enamel morpho...	ORPHA:96169
Duane-Radial Ray Syndrome	Anal stenosis, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxial polydactyly,...	OMIM:607323
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Low-set ears, Bifid uvula, Small hand, Cleft lip, Clinodactyly, Sandal gap, Downturned corners of...	OMIM:618089
Ossicular Malformations, Familial	Abnormality of the middle ear ossicles, Congenital conductive hearing impairment	OMIM:165680
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Bifid uvula, Arthrogryposis multiplex congenita, Camptodactyly of fin...	OMIM:114300
Mullegama-Klein-Martinez Syndrome	Low-set ears, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Atresia of the ext...	OMIM:301022
Osteopathia Striata-Cranial Sclerosis Syndrome	Low-set ears, High, narrow palate, Bifid uvula, High iliac wing, Conductive hearing impairment, C...	ORPHA:2780
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Abnormality of the dentition, Conductive hearing impairment, Atresia of the external auditory can...	OMIM:221320
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Genu valgum, Cleft soft palate, Metaphyseal dysplasia, Abnormality of ...	ORPHA:93316
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Atresia of the external auditory canal, Shortening of all phalanges of fingers, Wo...	OMIM:601356
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au...	ORPHA:2549
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Low-set ears, Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned...	ORPHA:404440
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent otitis media, Hearing impairment, Polydactyly	OMIM:615993
Gaucher Disease Type 2	Respiratory distress, Dysphagia, Abnormal pattern of respiration	ORPHA:77260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Elbow contracture, Hyperlordosis, Dysphagia, Achilles tendon contracture, Vertebral...	OMIM:606612
Verheij Syndrome	Short 5th finger, Clinodactyly, Branchial cyst, Long philtrum, Joint hypermobility, Thin upper li...	OMIM:615583
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory distress, Elb...	ORPHA:1145
Cleft Velum	Conductive hearing impairment, Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Recurrent...	ORPHA:99772
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Dysphagia, Velopharyngeal insufficiency	OMIM:617732
Branchiogenic-Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Atresia of the external auditory canal, Branch...	OMIM:609166
Chops Syndrome	High, narrow palate, Hearing impairment, Tracheomalacia, Downturned corners of mouth, Long philtr...	OMIM:616368
Meier-Gorlin Syndrome 1	Low-set ears, Thin ribs, Joint contracture of the hand, Small hand, Atresia of the external audit...	OMIM:224690
Stickler Syndrome, Type Ii	High, narrow palate, Bifid uvula, Arthropathy, Arachnodactyly, Sensorineural hearing impairment, ...	OMIM:604841
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Hearing impairment, Clinodact...	OMIM:268310
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Acetabular dysplasia,...	ORPHA:1143
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormality of t...	ORPHA:1836
Congenital Disorder Of Glycosylation, Type Iu	Congenital contracture, Respiratory distress, Death in infancy, Thin upper lip vermilion, High pa...	OMIM:615042
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Short 5th finger, Congenital hip dislocation, Conductive hearing impairment, Atresia of the exter...	OMIM:133705
Congenital Arthrogryposis With Anterior Horn Cell Disease	Low-set ears, Arthrogryposis multiplex congenita, Neonatal death, Short neck, Hip dysplasia, High...	OMIM:611890
Diaphanospondylodysostosis	Low-set ears, Unossified sacrum, Tracheomalacia, Respiratory distress, Absent in utero ossificati...	OMIM:608022
Kbg Syndrome	Ulnar deviation of the 2nd finger, Short neck, Widely-spaced maxillary central incisors, Vertebra...	OMIM:148050
Deafness, X-Linked 2	Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari...	OMIM:304400
Van Maldergem Syndrome 1	Atresia of the external auditory canal, Clinodactyly, Cutaneous finger syndactyly, Irregular dent...	OMIM:601390
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Short neck, Cervical he...	ORPHA:508498
Zimmermann-Laband Syndrome	Bifid uvula, Overtubulated long bones, Large fleshy ears, Anterior open-bite malocclusion, Supern...	ORPHA:3473
Koolen-De Vries Syndrome	Open mouth, Everted lower lip vermilion, High palate, Hip dislocation, Macrotia, Slender finger, ...	OMIM:610443
Intellectual Developmental Disorder, X-Linked 90	Attention deficit hyperactivity disorder, Bifid uvula, High palate	OMIM:300850
Marshall Syndrome	Low-set ears, Radial bowing, Recurrent otitis media, Thick upper lip vermilion, Sensorineural hea...	OMIM:154780
Neuralgic Amyotrophy	Bifid uvula, Narrow mouth, Upper limb pain, Cleft palate, Syndactyly	ORPHA:2901
Deafness, Progressive, With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	OMIM:601449
Progressive Deafness With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	ORPHA:3235
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Missing rib...	OMIM:613686
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Broad hallux, Low-set, posteriorly rotated ears, Hamartoma of tongue,...	ORPHA:434179
Orofaciodigital Syndrome Type 3	Low-set ears, Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Lobulated to...	ORPHA:2752
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Delayed skeletal maturation, Respiratory distress, Flexion contracture, Wrist hypermobility, Sens...	ORPHA:544503
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi...	ORPHA:90652
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Overlapping toe, Overlappi...	ORPHA:798
Sprengel Deformity	Rib segmentation abnormalities, Hemivertebrae, Spina bifida occulta, Cervical segmentation defect...	OMIM:184400
Proximal Symphalangism	Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Camptodactyly of finger, Finger...	ORPHA:3250
Larsen Syndrome	Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Beaking of vertebral bodie...	OMIM:150250
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Low-set ears, Delayed skeletal maturation, Delayed cranial suture closure, Respiratory distress, ...	OMIM:619383
Orofaciodigital Syndrome V	Low-set ears, Bifid uvula, Postaxial foot polydactyly, Hearing impairment, Sandal gap, Hamartoma ...	OMIM:174300
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Bifid uvula, Cleft palate, Ankle clonus	ORPHA:506353
Branchiootorenal Syndrome 1	Congenital hip dislocation, Bifid uvula, Dilatated internal auditory canal, Cupped ear, Conductiv...	OMIM:113650
Auriculocondylar Syndrome	Abnormality of the crus of the helix, Bifid uvula, Mandibular condyle aplasia, Microglossia, Dent...	ORPHA:137888
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Hearing impairment, Sensorineural hearing impairment, ...	ORPHA:444077
Autosomal Recessive Centronuclear Myopathy	Bifid uvula, Narrow mouth, Hip contracture, Protruding ear, Hyperlordosis, Long fingers, High palate	ORPHA:169186
Tetrasomy 12P	Delayed eruption of teeth, Delayed skeletal maturation, Downturned corners of mouth, Thick upper ...	ORPHA:884
Braddock-Carey Syndrome 2	Atresia of the external auditory canal, Hearing impairment, Clinodactyly, Wide mouth, Cleft palat...	OMIM:619981
Coffin-Siris Syndrome 11	Bifid uvula, Small hand, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, Upli...	OMIM:618779
Elsahy-Waters Syndrome	Low-set ears, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, I...	OMIM:211380
Orofaciodigital Syndrome Xiv	Low-set ears, Cleft lip, Natal tooth, Broad hallux, Anteriorly placed anus, Preaxial polydactyly,...	OMIM:615948
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Short neck, Radial head subluxation, Advanced ossification of ...	OMIM:615777
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Atresia of the external auditory canal, Hearing impairmen...	ORPHA:1508
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Laryngomalacia	Respiratory distress	OMIM:150280
Emanuel Syndrome	Low-set ears, Tooth malposition, Hearing impairment, Recurrent otitis media, Anal atresia, High p...	ORPHA:96170
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Nocturnal hypoventilation, Hyperlordosis, Achilles tendon contracture, Vertebral fu...	OMIM:607155
Temple Syndrome	Bifid uvula, Small hand, Polyphagia, Clinodactyly of the 5th finger, Short foot, Scoliosis	ORPHA:254516
Meckel Syndrome, Type 10	Bifid uvula, Postaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly, Campt...	OMIM:614175
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow palate, Conductive hearing impairme...	OMIM:614188
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Low-set ears, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Wi...	OMIM:617102
Pleural Mesothelioma	Respiratory distress, Dyspnea, Dysphagia	ORPHA:50251
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Hearing impairment, Hypoplastic iliac wing, Delayed pubic bone ossification...	OMIM:119600
Van Maldergem Syndrome 2	Atresia of the external auditory canal, Hearing impairment, Clinodactyly, Cutaneous finger syndac...	OMIM:615546
Sweeney-Cox Syndrome	Low-set ears, Crumpled ear, Hearing impairment, Velopharyngeal insufficiency, Narrow mouth, 2-5 f...	OMIM:617746
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Kyphoscoliosis	OMIM:617977
Auriculocondylar Syndrome 3	Bifid uvula, Bilateral conductive hearing impairment, Question mark ear, Stenosis of the external...	OMIM:615706
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, Joint contracture of the hand, Arthrogryposis multiplex congenita, Clinodactyly, Vil...	OMIM:601110
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Dysphagia, Infantile sensorineural hearing impairment, Scoliosis, Severe se...	ORPHA:254875
Pfeiffer Syndrome Type 2	Low-set ears, Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Atresia of the ext...	ORPHA:93259
Alg3-Cdg	Osteopenia, Hearing impairment, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macr...	ORPHA:79321
Nager Syndrome	Aplasia/Hypoplasia of the radius, Atresia of the external auditory canal, Hearing impairment, Non...	ORPHA:245
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Arachnodact...	ORPHA:536467
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Knee flexion contracture, Absent uvula...	OMIM:616531
Ear-Patella-Short Stature Syndrome	Low-set ears, Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory ...	ORPHA:2554
Brachycephaly, Trichomegaly, And Developmental Delay	Low-set ears, Bifid uvula, Conductive hearing impairment, Prominent fingertip pads, Thick lower l...	OMIM:617412
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Low-set ears, Recurrent otitis media, Overlapping toe, Short neck, Beaking of vertebral bodies, M...	OMIM:213980
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Hearing impairment, Respiratory distress, Nocturnal hypoventilation, Death in chi...	OMIM:211530
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti...	ORPHA:93346
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Otosclerosis...	OMIM:166220
Branchiootic Syndrome	Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can...	ORPHA:52429
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Thin ribs, Coronal craniosynostosis, Pyloric stenosis, Respiratory distress, Overla...	ORPHA:83617
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Arachnodactyly, High p...	OMIM:300373
Steinfeld Syndrome	Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Hearing impairme...	OMIM:184705
Atresia Of External Auditory Canal And Conductive Deafness	Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a...	OMIM:108760
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Dental malocclusion, Hearing impairment, Clinodactyly of the 5th finger, Wide mout...	OMIM:227330
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Thoracic hemivertebrae, Fused thoracic vertebrae, Scoliosis, Syndactyly	ORPHA:1445
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Low-set ears, Bifid uvula, Small hand, Abnormality of the dentition, Hearing impairment, Long phi...	OMIM:300968
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Hearing impairment, Clinodactyly, Cleft soft palate, Sensorineural hearing impairmen...	OMIM:616331
Hypoglossia With Situs Inversus	Low-set ears, Microglossia, Respiratory distress, Narrow mouth, Hypodontia, High palate	OMIM:612776
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Respiratory distress, Stenosis of the external auditory canal, Sensorineural hearing...	OMIM:606164
Burn-Mckeown Syndrome	Bifid uvula, Conductive hearing impairment, Hearing impairment, Cleft upper lip, Narrow mouth, Pr...	OMIM:608572
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Conductive hearing impairment, Atresia of ...	OMIM:123500
Diamond-Blackfan Anemia 7	Osteopenia, Atresia of the external auditory canal, Hearing impairment, Short thumb, Recurrent ot...	OMIM:612562
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Bifid uvula, Downturned corners of mouth, Long philtrum, 2-3 toe syndactyly, Thin upper lip vermi...	OMIM:619121
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Protruding tongue, Death in childhood, Sensorineural hearing impairment, Alveolar ri...	OMIM:612938
Congenital Myopathy 22B, Severe Fetal	Low-set ears, Thin ribs, Tapered toe, Shoulder flexion contracture, Slender long bone, Dental cro...	OMIM:620369
Immunodeficiency 95	Respiratory distress	OMIM:619773
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Dental crowding, Thick lower lip vermilion, Long hallux, Recurr...	OMIM:309583
Mandibulofacial Dysostosis, Guion-Almeida Type	Low-set ears, Slender finger, Conductive hearing impairment, Atresia of the external auditory can...	OMIM:610536
Buratti-Harel Syndrome	Low-set ears, Bifid uvula, Broad thumb, Broad hallux, Velopharyngeal insufficiency, Submucous cle...	OMIM:619314
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Low-set ears, Bifid uvula, Thin upper lip vermilion, Craniosynostosis, Narrow palate, Wide mouth	OMIM:620428
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A...	ORPHA:2919
Agnathia-Otocephaly Complex	Low-set ears, Microglossia, Conductive hearing impairment, Tracheomalacia, Respiratory distress, ...	OMIM:202650
Hypertelorism-Microtia-Facial Clefting Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Median cleft palate, Microtia	ORPHA:2213
Acrofacial Dysostosis 1, Nager Type	Low-set ears, Toe syndactyly, Atresia of the external auditory canal, Clinodactyly, Velopharyngea...	OMIM:154400
Campomelic Dysplasia	Low-set ears, Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervi...	OMIM:114290
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Low-set ears, Narrow mouth, Arachnodactyly, Radioulnar synostosis, Bowing of the long bones, Abse...	OMIM:130070
Uvula, Bifid	Bifid uvula	OMIM:192100
White-Sutton Syndrome	Low-set ears, Abnormality of the outer ear, Broad thumb, Hypoplastic cervical vertebrae, Overfrie...	OMIM:616364
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Chronic otitis media	OMIM:619466
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ...	OMIM:271520
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Low-set ears, Bifid uvula, Cupped ear, Sensorineural hearing impairment, Short neck, Thoracolumba...	OMIM:300472
Classical-Like Ehlers-Danlos Syndrome Type 2	Tooth malposition, Periodontitis, Elbow dislocation, Arachnodactyly, High palate, Long uvula, Hip...	ORPHA:536532
Native American Myopathy	Progressive congenital scoliosis, Bifid uvula, Conductive hearing impairment, Congenital contract...	ORPHA:168572
Myhre Syndrome	Low-set ears, Limitation of joint mobility, Hearing impairment, Clinodactyly, Hypoplastic iliac w...	OMIM:139210
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia	ORPHA:240085
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypopl...	ORPHA:3027
Alfadhel Syndrome	Low-set ears, Joint hypermobility, Smooth philtrum, Aggressive behavior, Thin vermilion border, S...	OMIM:620655
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea, Dyspnea, Choking episodes, Dysphagia	ORPHA:60032
Lethal Recessive Chondrodysplasia	Respiratory distress, Flared elbow metaphyses, Generalized osteosclerosis, Accelerated skeletal m...	ORPHA:1423
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Schilbach-Rott Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Clinodactyly, Narrow mouth, Submucous cleft hard palat...	OMIM:164220
Osteogenesis Imperfecta, Type X	Platyspondyly, Thin ribs, Pyloric stenosis, Osteopenia, Dentinogenesis imperfecta, Respiratory di...	OMIM:613848
Cerebrocostomandibular Syndrome	Posterior rib gap, Conductive hearing impairment, Atresia of the external auditory canal, Tracheo...	ORPHA:1393
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Atresia of the external auditory canal, Hearing impairment, Intestinal pseud...	OMIM:243180
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Atresia of the external auditory canal, Delayed skeletal maturation, Low-set, poster...	ORPHA:1770
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Hearing impairment, Respiratory distress, Recurrent otitis media, Lumbar hyperlord...	OMIM:616482
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Atresia of the external auditory canal, Cleft palate, Microtia	OMIM:300946
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Wide anterior fontanel, Clinodactyly, Anteriorly placed anus, Tracheomalacia, Respiratory distres...	OMIM:217980
Pfeiffer Syndrome Type 3	Low-set ears, Small hand, Toe syndactyly, Broad thumb, Hearing impairment, Finger syndactyly, Lim...	ORPHA:93260
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Synostosis of carpal bones, Conductive hearing impairment...	ORPHA:3238
Osteogenesis Imperfecta, Type I	Osteopenia, Dentinogenesis imperfecta, Otosclerosis, Hearing impairment, Femoral bowing, Biconcav...	OMIM:166200
Robinow Syndrome, Autosomal Recessive 2	Low-set ears, Abnormality of the dentition, Broad thumb, Clinodactyly, Prominent fingertip pads, ...	OMIM:618529
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Respiratory distress, Paradoxical respiration, Distal arthrogry...	OMIM:620011
Chromosome 18Q Deletion Syndrome	Bifid uvula, Toe syndactyly, Conductive hearing impairment, Atresia of the external auditory cana...	OMIM:601808
Tetrasomy 5P	Low-set ears, Long philtrum, Respiratory distress, Overlapping toe, Short neck, Short hallux, Lon...	ORPHA:3309
15Q Overgrowth Syndrome	Low-set ears, Abnormality of the outer ear, Contracture of the proximal interphalangeal joint of ...	ORPHA:314585
Bresek Syndrome	Low-set ears, Hearing impairment, Neonatal death, Protruding ear, Aganglionic megacolon, Hemivert...	ORPHA:85284
Crisponi/Cold-Induced Sweating Syndrome 1	Low-set ears, Carious teeth, Radial deviation of finger, Long philtrum, Elbow flexion contracture...	OMIM:272430
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Bor Syndrome	Atresia of the external auditory canal, Hearing impairment, Branchial cyst, Stenosis of the exter...	ORPHA:107
Osteoglophonic Dysplasia	Low-set ears, Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phal...	OMIM:166250
Intellectual Developmental Disorder, Autosomal Recessive 44	Thin vermilion border, Bifid uvula, Long philtrum	OMIM:615942
Congenital Myasthenic Syndrome	Low-set ears, Congenital hip dislocation, Neuropathic spinal arthropathy, Episodic respiratory di...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Low-set ears, Congenital hip dislocation, Neuropathic spinal arthropathy, Episodic respiratory di...	ORPHA:98914
Orofaciodigital Syndrome Type 2	Natal tooth, Short tibia, Finger syndactyly, Velopharyngeal insufficiency, Broad first metatarsal...	ORPHA:2751
Diamond-Blackfan Anemia 10	Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Hearing impa...	OMIM:613309
Diamond-Blackfan Anemia 11	Finger aplasia, Unilateral radial aplasia, Absent thumb, Atresia of the external auditory canal, ...	OMIM:614900
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Bifid uvula, Absence of the sacrum, Butterfly vertebrae, Submucous cleft hard palate, Sensorineur...	OMIM:617660
Johnson Neuroectodermal Syndrome	Carious teeth, Conductive hearing impairment, Atresia of the external auditory canal, Preaxial ha...	ORPHA:2316
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Low-set ears, Respiratory distress, Apnea, Tented upper lip vermilion, Hypoventilation, Polydacty...	ORPHA:314655
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Low-set ears, Hypoplastic ilia, Long philtrum, Respiratory distress, Horizontal ribs, Short ribs,...	OMIM:617895
Thyroid Lymphoma	Respiratory distress, Dyspnea, Dysphagia	ORPHA:97285
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Natal tooth, ...	OMIM:146510
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Death in infancy, Cleft palate	OMIM:258320
Radio-Renal Syndrome	High, narrow palate, Abnormal form of the vertebral bodies, Downturned corners of mouth, Respirat...	ORPHA:3015
Myhre Syndrome	Platyspondyly, Bifid uvula, Gingival cleft, Abnormal epiphysis morphology, Hearing impairment, Un...	ORPHA:2588
Acrocallosal Syndrome	Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Hearing impairment, Finger syndactyly, ...	OMIM:200990
Tonne-Kalscheuer Syndrome	Self-injurious behavior, Broad thumb, Velopharyngeal insufficiency, Downturned corners of mouth, ...	OMIM:300978
Myopathy And Diabetes Mellitus	Respiratory distress, Achilles tendon contracture, Sensorineural hearing impairment	ORPHA:2596
Chronic Pneumonitis Of Infancy	Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions	ORPHA:91359
Robinow Syndrome	Low-set ears, Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Synd...	ORPHA:97360
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Atresia of the external auditory canal, Hearing impairment	ORPHA:3023
Acro-Renal-Ocular Syndrome	Toe syndactyly, Conductive hearing impairment, Short distal phalanx of the thumb, Finger syndacty...	ORPHA:959
Congenital Disorder Of Glycosylation, Type Ig	Short tibia, Sandal gap, Respiratory distress, Butterfly vertebrae, Short humerus, Sensorineural ...	OMIM:607143
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Abnormality of the dentition, Prominent antihelix, Inappropriate laughter, Motor ste...	OMIM:615802
Aicardi Syndrome	Block vertebrae, Small hand, Cleft upper lip, Butterfly vertebrae, Intestinal polyposis, Protrudi...	ORPHA:50
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Abnormal helix morphology, Macroglossia, Osteopenia, Hearing impairment, Downturned ...	ORPHA:453499
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Bilateral conductive hearing impairment, Sandal gap, Agenesis of pe...	OMIM:216300
Basal Cell Nevus Syndrome 1	Irregular ossification of hand bones, Short distal phalanx of the thumb, Vertebral wedging, Cleft...	OMIM:109400
Multiple Synostoses Syndrome 4	Overlapping toe, Otosclerosis, Brachydactyly, Tarsal synostosis	OMIM:617898
Cardiomyopathy, Dilated, 2H	Tachypnea, Neonatal death	OMIM:620203
Hyperphosphatasia-Intellectual Disability Syndrome	Bifid uvula, Cupped ear, Clinodactyly, Anteriorly placed anus, Downturned corners of mouth, Tente...	ORPHA:247262
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Elbow ankylosis,...	ORPHA:2658
Stolerman Neurodevelopmental Syndrome	Bifid uvula, Abnormality of the dentition, Joint hypermobility, Hyperactivity, Thick vermilion bo...	OMIM:618505
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, Respiratory distress, Death in infancy, Neonatal death, Joint hypermobility, High palate	OMIM:300219
Orofaciodigital Syndrome Xix	Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Carious teeth, Cleft soft palate, Narro...	OMIM:620107
Generalized Arterial Calcification Of Infancy	Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Osteomalacia, Respiratory di...	ORPHA:51608
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul...	OMIM:203500
Au-Kline Syndrome	Overlapping toe, Open mouth, Sensorineural hearing impairment, Thoracolumbar scoliosis, High pala...	OMIM:616580
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope...	ORPHA:352665
Wolf-Hirschhorn Syndrome	Sensorineural hearing impairment, Radioulnar synostosis, Short hallux, Motor stereotypy, Hip disl...	OMIM:194190
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
16P13.11 Microdeletion Syndrome	Low-set ears, Self-injurious behavior, Atresia of the external auditory canal, Cleft upper lip, C...	ORPHA:261236
Isolated Cleft Lip	Conductive hearing impairment, Velopharyngeal insufficiency, Non-midline cleft of the upper lip, ...	ORPHA:199302
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Nipah Virus Disease	Respiratory distress, Anorexia	ORPHA:99825
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Osteomalacia, Short neck, Abnormal metacarpal morphology, Short palm, Aplasia/hypop...	ORPHA:2636
Kapur-Toriello Syndrome	Low-set ears, Atresia of the external auditory canal, Intestinal malrotation, Short neck, Orofaci...	ORPHA:2328
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Dyspnea, Scoliosis, Spinal rigidity	ORPHA:86812
Lissencephaly Syndrome, Norman-Roberts Type	Low-set ears, Respiratory distress, Adducted thumb, Rocker bottom foot, Dysphagia	ORPHA:89844
Loeys-Dietz Syndrome 5	Flexion contracture of toe, Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Spondylol...	OMIM:615582
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Thoracolumbar scoliosis, ...	OMIM:620450
17Q23.1Q23.2 Microdeletion Syndrome	Shallow acetabular fossae, Abnormal epiphysis morphology, Hearing impairment, Sandal gap, Patella...	ORPHA:261279
Episodic Ataxia Type 1	Respiratory distress, Vertigo, Scoliosis, Kyphoscoliosis	ORPHA:37612
Chromosome 6Q24-Q25 Deletion Syndrome	Low-set ears, High, narrow palate, Small hand, Cupped ear, Prominent fingertip pads, Sandal gap, ...	OMIM:612863
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Gorlin Syndrome	Abnormal vertebral morphology, Carious teeth, Vertebral wedging, Abnormal rib morphology, Arachno...	ORPHA:377
Branchioskeletogenital Syndrome	Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Downturned corners of mouth, Abnormality...	ORPHA:1299
Esophageal Atresia	Abnormal vertebral morphology, Barrett esophagus, Cleft lip, Hearing impairment, Clinodactyly, Re...	ORPHA:1199
Craniolenticulosutural Dysplasia	Bifid uvula, Osteopenia, Posterior wedging of vertebral bodies, High iliac wing, Delayed eruption...	OMIM:607812
Congenital Disorder Of Glycosylation, Type Ie	High, narrow palate, Ankle flexion contracture, Small hand, Upper limb undergrowth, Respiratory d...	OMIM:608799
Monosomy 9P	Low-set ears, Abnormality of the dentition, Limitation of joint mobility, Abnormality of the vert...	ORPHA:261112
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Conical tooth, Carious teeth, Hearing impairment, Velo...	OMIM:129400
Duane Retraction Syndrome	Abnormal form of the vertebral bodies, Hearing impairment, Preaxial hand polydactyly, Narrow inte...	ORPHA:233
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Bifid uvula, Small hand, Patchy osteosclerosis, Delayed skeletal maturation, Long p...	OMIM:241410
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Joint contracture of the hand, Respiratory distress, Knee contracture, Death in childhood, Death ...	OMIM:620278
Neuhauser Syndrome	Genu recurvatum, Bifid uvula, Osteopenia, Cupped ear, Long philtrum, Large fleshy ears, Genu valg...	OMIM:249310
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Natal tooth, Atresia of the external auditory canal, Anteriorly place...	OMIM:123790
Myopathy, Centronuclear, 5	Bifid uvula, High palate, Narrow mouth, Hip contracture	OMIM:615959
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Conductive hearing impairment, Atresia of the external auditory ca...	OMIM:608257
Stickler Syndrome	Hearing impairment, Open bite, Genu valgum, Sensorineural hearing impairment, Arachnodactyly, Sho...	ORPHA:828
Van Esch-O'Driscoll Syndrome	Bifid uvula, Downturned corners of mouth, Clinodactyly of the 5th finger, Wide mouth, Protruding ...	OMIM:301030
Malaria	Respiratory distress	ORPHA:673
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Familial Nasal Acilia	Respiratory distress, Dyspnea	ORPHA:922
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Broad distal phalanx of finger, Conductive hearing impairment, Delayed eruption of t...	OMIM:300990
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Short philtrum, Thin vermilion border, Macrotia	ORPHA:261304
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Dysphagia	OMIM:613561
Cerebrocostomandibular Syndrome	Low-set ears, Carious teeth, Cleft soft palate, Short hard palate, High palate, Pierre-Robin sequ...	OMIM:117650
Multiple Epiphyseal Dysplasia Type 5	Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe...	ORPHA:93311
Baller-Gerold Syndrome	Abnormal vertebral morphology, Low-set ears, Lambdoidal craniosynostosis, Carpal synostosis, Narr...	OMIM:218600
Limb-Mammary Syndrome	Bifid uvula, Joint contracture of the hand, Hypodontia, Hallux valgus, Split hand, Camptodactyly,...	OMIM:603543
Simpson-Golabi-Behmel Syndrome	Abnormal helix morphology, Toe syndactyly, Broad thumb, Finger syndactyly, Short neck, Short foot...	ORPHA:373
Birk-Barel Syndrome	Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, Short philtrum, High palate...	OMIM:612292
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Underdeveloped superior crus of antihelix, Bifid uvula, Broad thumb, Broad hallux, Delayed skelet...	ORPHA:293967
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Aplasia/Hypoplasia of the earlobes, Anteriorly placed anus, Tooth agenesis, Respiratory distress,...	ORPHA:1555
Dubowitz Syndrome	Low-set ears, Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Delayed ske...	OMIM:223370
Trisomy 8P	Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Short neck, Shor...	ORPHA:264450
Catel-Manzke Syndrome	Low-set ears, Ulnar deviation of the 2nd finger, Genu valgum, Narrow mouth, Short neck, High pala...	OMIM:616145
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Dental malocclusion, Contractures of the large joints, Respiratory distress, Thin upp...	ORPHA:329178
Hydrolethalus	Low-set ears, Bifid uvula, Gingival cleft, Unilateral cleft lip, Low-set, posteriorly rotated ear...	ORPHA:2189
Mycophenolate Mofetil Embryopathy	Bifid thoracic vertebrae, Atresia of the external auditory canal, Hearing impairment, Tracheomala...	ORPHA:268249
Spinal muscular atrophy, type I, with congenital bone fractures	Congenital hip dislocation, Osteopenia, Respiratory distress, Arachnodactyly, Multiple prenatal f...	OMIM:271225
Marden-Walker Syndrome	Low-set ears, Bifid uvula, Arthrogryposis multiplex congenita, Abnormal form of the vertebral bod...	ORPHA:2461
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Agenesis of permanent teeth, S...	OMIM:614091
17Q24.2 Microdeletion Syndrome	Tooth malposition, Otosclerosis, Broad thumb, Abnormality of the ankle, Upper limb undergrowth, R...	ORPHA:529962
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Clinodactyly, Overlapping toe, Short neck, Everted lower lip vermilion...	ORPHA:177907
Mgat2-Cdg	Osteopenia, Prominent antihelix, Dental crowding, Abnormal earlobe morphology, Respiratory distre...	ORPHA:79329
Microphthalmia, Syndromic 3	Butterfly vertebrae, Sensorineural hearing impairment, Missing ribs, Supernumerary ribs, Rib fusi...	OMIM:206900
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea	OMIM:263000
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d...	OMIM:142900
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, H...	ORPHA:363444
Shwachman-Diamond Syndrome 1	Proximal femoral epiphysiolysis, Delayed skeletal maturation, Respiratory distress, Metaphyseal s...	OMIM:260400
Lambotte Syndrome	Preaxial foot polydactyly, Narrow mouth, Atresia of the external auditory canal, Macrotia	OMIM:245552
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Dysphagia	ORPHA:240103
Deafness, X-Linked 7	Stenosis of the external auditory canal, Posteriorly rotated ears, Atresia of the external audito...	OMIM:301018
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impairment, Foot po...	ORPHA:3186
Hypomandibular Faciocranial Dysostosis	Low-set ears, Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Cran...	ORPHA:1790
Orofaciodigital Syndrome Type 4	Low-set ears, Abnormality of the outer ear, Aplasia/Hypoplasia of the tibia, Finger syndactyly, A...	ORPHA:2753
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Macroglossia, High palate	ORPHA:254864
Warburg-Cinotti Syndrome	Low-set ears, Ankle flexion contracture, Hypoplasia of the ear cartilage, Conductive hearing impa...	OMIM:618175
Progeria-Short Stature-Pigmented Nevi Syndrome	Bifid uvula, Short distal phalanx of finger, Osteopenia, Dental malocclusion, Progressive sensori...	ORPHA:2959
Ulbright-Hodes Syndrome	Low-set ears, Thin ribs, Fibular aplasia, Narrow mouth, Humeroradial synostosis, Short neck, Ovoi...	ORPHA:3404
Meckel Syndrome 12	Low-set ears, Bifid uvula, Antecubital pterygium, Rocker bottom foot, Arthrogryposis multiplex co...	OMIM:616258
Mucopolysaccharidosis Type 3	Hearing impairment, Genu valgum, Sensorineural hearing impairment, Dysphagia, Chronic otitis medi...	ORPHA:581
Arterial Tortuosity Syndrome	Rocker bottom foot, Respiratory distress, Avascular necrosis of the capital femoral epiphysis, Es...	ORPHA:3342
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Hearing impairment	OMIM:616733
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea	ORPHA:140896
Bronchopulmonary Dysplasia	Respiratory distress, Dyspnea, Central apnea	ORPHA:70589
Neu-Laxova Syndrome	Bifid uvula, Osteopenia, Rickets, Arthrogryposis multiplex congenita, Osteomalacia, Pterygium, Su...	ORPHA:2671
Multiple Self-Healing Squamous Epithelioma, Susceptibility To	Bifid uvula	OMIM:132800
Doors Syndrome	Low-set ears, Atresia of the external auditory canal, Short lingual frenulum, Open mouth, Lumbar ...	ORPHA:79500
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormal form of the vertebral bodies, Hearing impairment, Abnormal ear morphology, Vertebral seg...	ORPHA:3109
Phosphoribosylaminoimidazole Carboxylase Deficiency	Lumbar hemivertebrae, Low-set ears, Neonatal death, Missing ribs, Short neck, Tracheoesophageal f...	OMIM:619859
Microcephaly-Micromelia Syndrome	Low-set ears, Absent thumb, Short tibia, Oligodactyly, Narrow mouth, Humeroradial synostosis, Neo...	OMIM:251230
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Triangular mouth, Limited wrist extension, Exertional dysp...	ORPHA:98915
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Respiratory distress, Narrow internal auditory canal, Low-set, posteriorly rotated ...	ORPHA:990
Zttk Syndrome	Low-set ears, Small hand, Narrow mouth, High palate, Short foot, Downturned corners of mouth, Sub...	OMIM:617140
W Syndrome	Upper lip pit, Broad uvula, Clinodactyly, Radial bowing, Elbow dislocation, Submucous cleft hard ...	ORPHA:2804
Aural Atresia, Congenital	Conductive hearing impairment, Atresia of the external auditory canal	OMIM:607842
Microtia	Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin...	ORPHA:83463
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Cleft palate, Submucous cleft hard palate, Camptodactyly of finger	ORPHA:2521
Primary Dystonia, Dyt4 Type	Respiratory distress, Open mouth, Dysphagia, Kyphoscoliosis	ORPHA:98805
Lacrimoauriculodentodigital Syndrome	Low-set ears, Toe syndactyly, Xerostomia, Finger syndactyly, Clinodactyly, Carious teeth, Sensori...	ORPHA:2363
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Narrow mouth, ...	ORPHA:138
Acute Lung Injury	Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea	ORPHA:178320
Arterial Tortuosity Syndrome	Bifid uvula, Long philtrum, Joint hypermobility, Arachnodactyly, Hiatus hernia, High palate, Scol...	OMIM:208050
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Hearing impairment, Abnormal tibia morphology, Enlarged vertebral pedic...	ORPHA:666
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Dysphagia	ORPHA:142
Tularemia	Respiratory distress, Otitis media, Oral ulcer	ORPHA:3392
Fraser Syndrome	Abnormality of the outer ear, Toe syndactyly, Atresia of the external auditory canal, Finger synd...	ORPHA:2052
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip ve...	ORPHA:438216
Mogs-Cdg	Respiratory distress, Overlapping fingers, Apnea, Hypoventilation, Sensorineural hearing impairme...	ORPHA:79330
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Otosclerosis 7	Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ...	OMIM:611572
Xq21 Microdeletion Syndrome	Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis, Delayed skele...	ORPHA:1435
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Metacarpal synostosis, Tarsometatarsal synostosis, Hearing impairm...	OMIM:600383
Hyperparathyroidism, Transient Neonatal	Low-set ears, Thin ribs, Fractured rib, Osteopenia, Metaphyseal spurs, Respiratory distress, Femo...	OMIM:618188
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Low-set ears, Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Short neck, Hi...	OMIM:266920
Adnp Syndrome	Low-set ears, Broad thumb, Oral-pharyngeal dysphagia, Polyphagia, Abnormal finger morphology, Pol...	ORPHA:404448
Desmosterolosis	Low-set ears, Bifid uvula, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Large ...	ORPHA:35107
Neurofaciodigitorenal Syndrome	Low-set ears, Abnormal oral mucosa morphology, Atresia of the external auditory canal, Abnormal d...	ORPHA:2673
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Abnormal lip morphology, Respiratory distress, Abnormal upper lip morphology...	ORPHA:2707
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Aggressive behavior, Tachypnea, Anorexia	OMIM:237310
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Low-set ears, Bifid uvula, Scoliosis, Delayed skeletal maturation, Long philtrum, Widely spaced t...	OMIM:617506
Treacher Collins Syndrome 2	Conductive hearing impairment, Fusion of middle ear ossicles, Anotia, Cleft palate, Microtia	OMIM:613717
Gaucher Disease, Perinatal Lethal	Low-set ears, Everted upper lip vermilion, Respiratory distress, Apnea, Open mouth, Narrow mouth,...	OMIM:608013
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea, Sensorineural hearing impairment	ORPHA:79097
Dyssegmental Dysplasia, Silverman-Handmaker Type	Anisospondyly, Pterygium, Narrow mouth, Neonatal death, Bowing of the long bones, Short long bone...	OMIM:224410
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Atresia of the external auditory canal	OMIM:209770
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Craniofaciofrontodigital Syndrome	Macroglossia, Osteopenia, Long philtrum, Respiratory distress, Gingival overgrowth, Prominent med...	ORPHA:363705
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Absent thumb, Hyperactivity, Submucous cleft hard palate	OMIM:619239
Coffin-Siris Syndrome 12	Low-set ears, Broad thumb, Velopharyngeal insufficiency, Delayed cranial suture closure, Sensorin...	OMIM:619325
Myotonic Dystrophy 1	Respiratory distress, Dysphagia, Obsessive-compulsive trait	OMIM:160900
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Anorexia	ORPHA:79242
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea, Anorexia	ORPHA:1302
X-Linked Centronuclear Myopathy	Respiratory distress, High palate	ORPHA:596
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress, Dysphagia	OMIM:620375
Chromosome 1P36 Deletion Syndrome, Distal	Low-set ears, Hearing impairment, Sensorineural hearing impairment, Polyphagia, High palate, Shor...	OMIM:607872
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Hearing impairment, Otitis media	OMIM:606763
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Bifid uvula, Carious teeth, Bilateral conductive hearing impairment, Progressive se...	OMIM:620186
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Low-set ears, Tooth malposition, Small hand, Limitation of joint mobility, Hearing impairment, Ov...	ORPHA:480880
Stüve-Wiedemann Syndrome	Osteopenia, Abnormality of the dentition, Limitation of joint mobility, Smooth tongue, Camptodact...	ORPHA:3206
Oromandibular Dystonia	Respiratory distress, Bruxism, Dysphagia	ORPHA:93958
Raine Syndrome	Low-set ears, Natal tooth, Long hallux, Narrow mouth, Protruding tongue, Neonatal death, Bowing o...	OMIM:259775
Walker-Warburg Syndrome	Low-set ears, Bifid uvula, Metatarsus valgus, Submucous cleft hard palate, Protruding ear, Poster...	ORPHA:899
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Anorexia	ORPHA:79312
Microlissencephaly-Micromelia Syndrome	Long philtrum, Respiratory distress, 11 pairs of ribs, Short neck, Adducted thumb	ORPHA:50810
Congenital Diaphragmatic Hernia	Respiratory distress	ORPHA:2140
Barber-Say Syndrome	Low-set ears, Microtia, first degree, Dental malocclusion, Hearing impairment, Velopharyngeal ins...	OMIM:209885
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys...	OMIM:610921
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Short tibia, Short toe, Preaxial polydactyly, Oligodactyly, Short 4th f...	ORPHA:2756
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Acetabular dysplasia, Death in childhood, Flared iliac wing, Short neck, Me...	OMIM:617303
Cree Impaired Intellectual Development Syndrome	Low-set ears, Cutaneous finger syndactyly, Cleft soft palate, Aplasia/Hypoplasia of the ribs, Roc...	OMIM:606851
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Rubinstein-Taybi Syndrome 1	Low-set ears, Broad thumb, Hearing impairment, Delayed cranial suture closure, Hypoplastic iliac ...	OMIM:180849
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Natal tooth, Short tibia, Neonatal death, Short neck, Anal atresia, Abnormal pinna ...	OMIM:617925
Choanal Atresia	Respiratory distress, Choking episodes	ORPHA:137914
Arboleda-Tham Syndrome	Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr...	OMIM:616268
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Low-set ears, Bifid uvula, Scoliosis, Cupped ear, Narrow mouth, Exaggerated cupid's bow, Thick ve...	OMIM:619480
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Glue ear, Short neck, High palate,...	ORPHA:3310
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conical tooth, Cleft lip, Conductive hearing impairment, Atresia of the external auditory canal, ...	OMIM:106260
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Atresia of the external auditory canal, Elbow dislocation, Sensorineu...	ORPHA:199
Pachyonychia Congenita	Natal tooth, Oral leukoplakia, Respiratory distress, Lower limb pain, Ear pain, Advanced eruption...	ORPHA:2309
Aicardi Syndrome	Block vertebrae, Cleft upper lip, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusi...	OMIM:304050
Fraser Syndrome 2	Low-set ears, Atresia of the external auditory canal, Intestinal malrotation, Narrow mouth, Short...	OMIM:617666
Microphthalmia, Syndromic 2	Sensorineural hearing impairment, Contracture of the proximal interphalangeal joint of the 2nd to...	OMIM:300166
Loeys-Dietz Syndrome 4	High, narrow palate, Bifid uvula, Broad uvula, Spondylolisthesis, Joint hypermobility, Arachnodac...	OMIM:614816
Diamond-Blackfan Anemia 6	Bifid uvula, Tracheomalacia, Short thumb, Cleft upper lip, Triphalangeal thumb, Cleft palate	OMIM:612561
Greenberg Dysplasia	Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen...	OMIM:215140
Otosclerosis 11	Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im...	OMIM:620576
Alg9-Cdg	Low-set ears, Bifid uvula, Flared metaphysis, Large fleshy ears, Low-set, posteriorly rotated ear...	ORPHA:79328
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea	ORPHA:264675
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Bifid uvula, Self-injurious behavior, Fixated interests, Sandal gap, Long philt...	OMIM:620330
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Broad thumb, Overlapping toe, Sensorineural hearing impairment, Short neck, High pa...	OMIM:612474
Renal, Genital, And Middle Ear Anomalies	Abnormality of the middle ear ossicles, Hearing impairment	OMIM:267400
Laryngotracheoesophageal Cleft	Dyspnea, Choking episodes, Impaired oropharyngeal swallow response	ORPHA:2004
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Respiratory distress, Absent ossi...	ORPHA:226313
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Abnormal temper tantrums, Otosclerosis, Conductive hearing impairment, Limita...	ORPHA:580
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Dysphagia, Progressive hearing impairment	OMIM:620166
Hereditary Angioedema Type 1	Respiratory distress, Intestinal edema, Dyspnea, Abnormal soft palate morphology, Dysphagia, Abno...	ORPHA:100050
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress	ORPHA:100057
8Q24.3 Microdeletion Syndrome	Branchial cyst, Short neck, Short hallux, Tics, Cleft maxillary alveolar ridge, Dysphagia, Short ...	ORPHA:508488
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Motor stereotypy, Agitation	ORPHA:927
Craniofacial Microsomia 1	Block vertebrae, Duplicated tragus, Conductive hearing impairment, Atresia of the external audito...	OMIM:164210
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Death in infancy	OMIM:614299
Semilobar Holoprosencephaly	Bifid uvula, Abnormal pattern of respiration, Sensorineural hearing impairment, Median cleft uppe...	ORPHA:220386
Alobar Holoprosencephaly	Bifid uvula, Abnormal pattern of respiration, Sensorineural hearing impairment, Median cleft uppe...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Abnormal pattern of respiration, Sensorineural hearing impairment, Median cleft uppe...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Abnormal pattern of respiration, Sensorineural hearing impairment, Median cleft uppe...	ORPHA:93924
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ...	OMIM:619950
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal joint morphology, Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Abnormal bone oss...	ORPHA:99646
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, High palate, Death in infancy, Irregular respiration	OMIM:604377
Congenital Disorder Of Deglycosylation 1	Low-set ears, Small hand, Restlessness, Oral-pharyngeal dysphagia, Respiratory distress, Open mou...	OMIM:615273
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Dyspnea	ORPHA:411703
Tetanus	Respiratory distress, Tachypnea, Dysphagia	ORPHA:3299
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Sensorineural hearing impairment, Simple ear, Wri...	OMIM:618733
Ring Chromosome 7 Syndrome	Short 5th finger, Slender finger, Small hand, Bifid uvula, Prominent crus of helix, 3-4 toe synda...	ORPHA:1449
Restrictive Dermopathy 2	Respiratory distress, Rectal prolapse, Short clavicles, Overtubulated long bones	OMIM:619793
Mercury Poisoning	Respiratory distress, Dyspnea, Anorexia	ORPHA:330021
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Death in childhood, Sensorineural hearing impairment, Exertional dyspnea, H...	OMIM:220110
Short-Rib Thoracic Dysplasia 12	Low-set ears, Hypoplastic scapulae, Natal tooth, Neonatal death, Short neck, Short foot, Abnormal...	OMIM:269860
Microcephaly 30, Primary, Autosomal Recessive	Cleft soft palate, Thin upper lip vermilion, Uplifted earlobe, Clinodactyly of the 5th finger, Pi...	OMIM:620183
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Recurrent otitis media, Dyspnea, Cleft palate, Pierre-Robin sequence	OMIM:614921
Coffin-Lowry Syndrome	Hearing impairment, Open mouth, Sensorineural hearing impairment, Everted lower lip vermilion, Hi...	OMIM:303600
Smith-Lemli-Opitz Syndrome	Low-set ears, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis media, Overlapping...	OMIM:270400
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Abnormal pinna morphology, Wide anterior fontanel, Neonatal death	OMIM:231680
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Hearing impairment, Arachnodactyly, Dysphagia, Absent thumb, Downturned corners of ...	ORPHA:500150
Chitayat Syndrome	Tracheomalacia, Respiratory distress, Hallux valgus, Brachydactyly, Thick vermilion border	OMIM:617180
Pallister-Hall Syndrome	Toe syndactyly, Auricular tag, Atresia of the external auditory canal, Broad thumb, Radial bowing...	ORPHA:672
Fraser Syndrome 1	Low-set ears, Cupped ear, Atresia of the external auditory canal, Conductive hearing impairment, ...	OMIM:219000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hearing impairment, Ankyloglossia, Genu valgum, Bilateral sensorineural hearing impairment, Tics,...	OMIM:619475
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea	ORPHA:36238
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft upper lip, Bifid uvula, High palate	OMIM:155145
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Overlapping fingers, Knee flexion contracture, Absent uvula,...	OMIM:619708
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Otosclerosis, Conductive hearing impairment, Limitation of joint m...	ORPHA:217085
Microtia With Meatal Atresia And Conductive Deafness	Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Wide mouth, Microtia	OMIM:251800
Congenital Pulmonary Lymphangiectasia	Respiratory distress	ORPHA:2414
Popliteal Pterygium Syndrome	Bifid uvula, Intercrural pterygium, Popliteal pterygium, Fibrous syngnathia, Cleft upper lip, Cut...	OMIM:119500
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Loeys-Dietz Syndrome 1	Low-set ears, Bifid uvula, Spondylolisthesis, Joint hypermobility, Protruding ear, Arachnodactyly...	OMIM:609192
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Tachypnea, Cholesteatoma	OMIM:610978
Congenital Alveolar Capillary Dysplasia	Abnormal vertebral morphology, Volvulus, Duodenal stenosis, Respiratory distress, Intestinal malr...	ORPHA:210122
Scalp-Ear-Nipple Syndrome	Low-set ears, Bifid uvula, Broad thumb, Cupped ear, Finger syndactyly, Underdeveloped tragus, Age...	OMIM:181270
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Bifid uvula, Broad uvula, Osteochondritis dissecans, Intervertebral disk dege...	OMIM:619656
Meester-Loeys Syndrome	Bifid uvula, Broad distal phalanx of finger, Joint dislocation, Gingival overgrowth, Joint hyperm...	OMIM:300989
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Otosclerosis, Conductive hearing impairment, Limitation of joint m...	ORPHA:217093
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Hearing impairment, Finger syndactyly, Aplasia/Hyp...	ORPHA:84
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Self-injurious behavior, Abnormality of the outer ear, Prominent antihelix, Conductive hearing im...	ORPHA:466943
Rodrigues Blindness	Protruding ear, Tooth malposition, Nasal flaring	OMIM:268320
Isotretinoin-Like Syndrome	Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se...	ORPHA:2306
Bosma Arhinia Microphthalmia Syndrome	Absent tragus, Cleft lip, Conductive hearing impairment, Atresia of the external auditory canal, ...	OMIM:603457
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Prominent antihelix, Cleft soft palate, Underdeveloped antitragus, Smooth philtrum, Adducted thum...	ORPHA:293725
Heterotaxy, Visceral, 1, X-Linked	Low-set ears, Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Respiratory dis...	OMIM:306955
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hearing impairment, Respiratory distress, Exertional dyspnea, Orthopnea, Hyperlordosis, Dysphagia...	ORPHA:365
Acquired Methemoglobinemia	Respiratory distress, Dyspnea	ORPHA:464453
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Viss Syndrome	Low-set ears, Exostosis of the external auditory canal, Recurrent joint dislocation, Genu valgum,...	OMIM:619472
Limb-Mammary Syndrome	Bifid uvula, Toe syndactyly, Cleft lip, Oligodactyly, Submucous cleft soft palate, Protruding ear...	ORPHA:69085
Ramos-Arroyo Syndrome	Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Respiratory distress, Narrow mouth, Self...	ORPHA:1051
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Pai Syndrome	Median cleft upper lip, Bifid uvula, Abnormal oral frenulum morphology, Cleft palate	ORPHA:1993
Craniosynostosis 2	Unicoronal synostosis, Bicoronal synostosis, Cleft soft palate, Wormian bones, Triphalangeal thum...	OMIM:604757
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Cupped ear, Atresia of the external auditory canal, Hearing impairment, Finger sy...	ORPHA:264200
Isolated Atp Synthase Deficiency	Respiratory distress, Sensorineural hearing impairment	ORPHA:254913
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Open mouth, Submucous cleft hard palate, Aggressive behavior, Abnor...	OMIM:192430
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Sensorineural hearing impairment, Short neck, Preaxial hand pol...	OMIM:113620
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Tracheomalacia, Everted upper lip vermilion, Widely spaced teeth, Recurrent otitis media, Absent ...	ORPHA:513456
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan...	ORPHA:348
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Low-set ears, Exaggerated median tongue furrow, Sensorineural hearing impairment, Everted lower l...	OMIM:608670
Surfactant Metabolism Dysfunction, Pulmonary, 1	Apnea, Death in infancy, Neonatal death, Tachypnea, Dyspnea	OMIM:265120
Slc35A1-Cdg	Respiratory distress	ORPHA:238459
Avian Influenza	Respiratory distress, Tachypnea, Dyspnea, Miscarriage	ORPHA:454836
Treacher Collins Syndrome 1	Conductive hearing impairment, Atresia of the external auditory canal, Cleft soft palate, Narrow ...	OMIM:154500
Barber-Say Syndrome	Delayed eruption of teeth, Atresia of the external auditory canal, Hearing impairment, Wide mouth...	ORPHA:1231
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Neuroocular Syndrome 1	Low-set ears, Genu recurvatum, Cupped ear, Prominent fingertip pads, Short uvula, Tibial torsion,...	OMIM:619539
Otosclerosis 1	Otosclerosis, Conductive hearing impairment	OMIM:166800
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Dental malocclusion, Velopharyngeal insufficiency	OMIM:613680
Digeorge Syndrome	Low-set ears, High, narrow palate, Bifid uvula, Recurrent otitis media, Intervertebral disk degen...	OMIM:188400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Congenital contracture, Atresia of the external auditory canal, Cleft upper lip, An...	OMIM:236670
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Slender finger	OMIM:250940
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Low-set ears, Bifid uvula, Camptodactyly of finger, Abnormal antihelix morphology, Submucous clef...	ORPHA:3047
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, High palate	OMIM:619272
Aneurysm-Osteoarthritis Syndrome	Bifid uvula, Dental malocclusion, Camptodactyly of finger, Osteochondritis dissecans, Spondylolis...	ORPHA:284984
Trichohepatoenteric Syndrome 1	Low-set ears, Bifid uvula, Long philtrum, Avascular necrosis of the capital femoral epiphysis, Vi...	OMIM:222470
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Atlantoaxial instability, Conductive hearing impairment, High-frequency sensorineural...	OMIM:614557
Pallister-Killian Syndrome	Low-set ears, Small hand, Postaxial foot polydactyly, Hearing impairment, Delayed cranial suture ...	OMIM:601803
Infantile Krabbe Disease	Respiratory distress, Delayed brainstem auditory evoked response conduction time, Hearing impairm...	ORPHA:206436
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Lumbar hyperlordosis, Joint stiffness, Lumbar kyphosis, Short neck, Thick v...	ORPHA:505248
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand polydactyly	ORPHA:2519
Farber Disease	Short toe, Short finger, Respiratory distress, Abnormality of the wrist, Joint swelling, Arthriti...	ORPHA:333
Microphthalmia, Syndromic 6	Low-set ears, Lambdoidal craniosynostosis, Bifid uvula, Toe syndactyly, Microglossia, Hearing imp...	OMIM:607932
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring	ORPHA:70587
Coccidioidomycosis	Abnormality of the vertebral column, Hearing impairment, Respiratory distress, Broad ribs, Osteom...	ORPHA:228123
Loeys-Dietz Syndrome	Bifid uvula, Joint dislocation, Camptodactyly of finger, Joint hypermobility, Arachnodactyly, Oro...	ORPHA:60030
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Short humerus, Polydactyly, Sensorineural hearing impairment, Aggres...	ORPHA:17
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Brain-Lung-Thyroid Syndrome	Respiratory distress, Abnormal eating behavior, Sensorineural hearing impairment, Hypodontia, Abn...	ORPHA:209905
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in adolescence, Kyphosis, Death in infancy	OMIM:615512
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hearing impairment, Cleft soft palate, Submucous cleft soft palate, Short neck, Microtia	ORPHA:2282
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Flexion contracture, Esophageal varix	ORPHA:367
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Recurrent otitis media, Internally rotated shoulders, Cleft soft palate, Narrow mou...	OMIM:619503
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Conductive hearing impairment, Finger syndactyly, Delayed eruption of teeth, Widel...	ORPHA:1071
Otosclerosis 4	Mixed hearing impairment, Otosclerosis	OMIM:611571
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Absence of the sacrum, Neonatal death, Persistent cloaca, Vertebra...	OMIM:615709
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Recurrent otitis media, Long hallux, Genu valgum, Open mouth, Sensorineural he...	ORPHA:261537
Meconium Aspiration Syndrome	Respiratory distress	ORPHA:70588
Alternating Hemiplegia Of Childhood	Oral-pharyngeal dysphagia, Respiratory distress, Apnea, Aggressive behavior, Anorexia, Dysphagia,...	ORPHA:2131
Ablepharon Macrostomia Syndrome	Toe syndactyly, Atresia of the external auditory canal, Hearing impairment, Camptodactyly of fing...	ORPHA:920
Listeriosis	Hearing impairment, Respiratory distress, Osteomyelitis, Stiff neck, Septic arthritis, Back pain,...	ORPHA:533
Mowat-Wilson Syndrome	Tooth malposition, Recurrent otitis media, Genu valgum, Open mouth, Sensorineural hearing impairm...	ORPHA:2152
Microphthalmia With Linear Skin Defects Syndrome	Hearing impairment, Abnormal earlobe morphology, Respiratory distress, Abnormal rectum morphology...	ORPHA:2556
Oculopharyngodistal Myopathy 1	Respiratory distress, High palate, Dysphagia, Sensorineural hearing impairment	OMIM:164310
Amish Lethal Microcephaly	Limitation of joint mobility, Cleft soft palate, Death in infancy, Decreased skull ossification, ...	ORPHA:99742
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Pyloric stenosis, Hearing impairment, Short 5th toe, 2-4 toe cutaneous syndactyly, Widely spaced ...	ORPHA:268261
Traboulsi Syndrome	Bifid uvula, Dental malocclusion, Broad hallux, Short finger, Joint hypermobility, Arachnodactyly...	OMIM:601552
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy	OMIM:618426
Japanese Encephalitis	Genu recurvatum, Abnormal pattern of respiration, Respiratory distress, Elbow flexion contracture...	ORPHA:79139
Otosclerosis 10	Otosclerosis	OMIM:615589
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Enamel hypoplasia, Tympanosclerosis	OMIM:240300
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Cleft soft palate, Smooth philtrum, Esophageal atresia, Brachydactyly	OMIM:614526
Bifid Uvula	Bifid uvula, Cleft lip, Submucous cleft soft palate	ORPHA:99771
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Macroglossia, Hearing impairment	ORPHA:308552
Biotinidase Deficiency	Hearing impairment, Respiratory distress, Apnea, Sensorineural hearing impairment, Hyperventilation	ORPHA:79241
Loeys-Dietz Syndrome 2	Bifid uvula, Joint contracture of the hand, Spondylolisthesis, Absent distal phalanges, Joint hyp...	OMIM:610168
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Respiratory distress, Smooth philtrum, Glossitis, Stomatitis	ORPHA:79282
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea	ORPHA:26793
Congenital Tracheal Stenosis	Meckel diverticulum, Abnormal earlobe morphology, Duodenal stenosis, Respiratory distress, Abnorm...	ORPHA:141127
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Recurrent otitis media, Long hallux, Genu valgum, Open mouth, Sensorineural he...	ORPHA:261552
Loeys-Dietz Syndrome 3	Hip osteoarthritis, Bifid uvula, Osteopenia, Dental malocclusion, Osteochondritis dissecans, Spon...	OMIM:613795
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Diamond-Blackfan Anemia	Low-set ears, Cleft lip, Absent thumb, Short thumb, Cleft soft palate, Partial duplication of thu...	ORPHA:124
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Tachypnea, Dyspnea	OMIM:610913
Orofacial Cleft 13	Cleft soft palate, Oligodontia	OMIM:613857
Isolated Arrhinia	Respiratory distress, Absent nasal septal cartilage, Microtia	ORPHA:1134
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate	ORPHA:2736
Bacterial Toxic-Shock Syndrome	Respiratory distress, Osteomyelitis, Tachypnea, Arthritis, Septic arthritis	ORPHA:36234
Cryptococcosis	Abnormality of the outer ear, Respiratory distress, Osteomyelitis, Dyspnea, Osteolysis	ORPHA:1546
Idiopathic Hypereosinophilic Syndrome	Ankle swelling, Swelling of proximal interphalangeal joints, Respiratory distress, Joint swelling...	ORPHA:3260
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Flexion contracture	OMIM:616271
Plague	Inflammation of the large intestine, Hearing impairment, Chapped lip, Respiratory distress, Ileit...	ORPHA:707
Holoprosencephaly 2	Bifid uvula, Median cleft palate, Submucous cleft hard palate, Bilateral cleft palate, Median cle...	OMIM:157170
Congenital Enterovirus Infection	Respiratory distress	ORPHA:292
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Sensorineural hearing impairment, Episodic respiratory distress, Dyspnea, Hyperventilation...	ORPHA:255210
Toxic Epidermal Necrolysis	Respiratory distress, Polydipsia, Dysphagia	ORPHA:537
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Osteomyelitis, Ileus, Abnormal intestine morphology, Gastritis, Colitis	ORPHA:37042
Lujo Hemorrhagic Fever	Respiratory distress, Dysphagia, Stiff neck	ORPHA:319213
Gitelman Syndrome	Chondrocalcinosis, Polydipsia, Respiratory distress, Vertigo, Gout, Tinnitus, Salt craving	ORPHA:358
Beckwith-Wiedemann Syndrome	Otosclerosis, Hearing impairment, Abnormal earlobe morphology, Anterior creases of earlobe, Wide ...	ORPHA:116
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Abnormal oral mucosa morphology, Respiratory distress, Erosion of ...	ORPHA:79404
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala...	ORPHA:2250
Holoprosencephaly 3	Solitary median maxillary central incisor, Bifid uvula, Cleft lip, Cleft palate	OMIM:142945
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress	OMIM:620306
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Conical tooth, Everted upper lip vermilion, Respiratory distress...	OMIM:305100
Neuroblastoma	Respiratory distress, Pathologic fracture, Bone pain	ORPHA:635
Ethylene Glycol Poisoning	Addictive alcohol use, Tachypnea, Abnormal pattern of respiration, Episodic respiratory distress	ORPHA:31826
Hardikar Syndrome	Unilateral cleft lip, Mild hearing impairment, Vertigo, Intestinal malrotation, Cleft soft palate...	OMIM:301068
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Cocaine Intoxication	Respiratory distress, Agitation, Colitis, Tachypnea, Hyperventilation, Intestinal perforation	ORPHA:90068
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Dyspnea, Back pain, Agitation	ORPHA:340
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Pmm2-Cdg	Platyspondyly, Osteopenia, Long philtrum, Respiratory distress, Multiple joint contractures, Kyph...	ORPHA:79318
Q Fever	Respiratory distress, Anorexia	ORPHA:781
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Tuberous Sclerosis Complex	Self-injurious behavior, Respiratory distress, Aggressive behavior, Attention deficit hyperactivi...	ORPHA:805
Scimitar Syndrome	Respiratory distress, Abnormality of the vertebral column	ORPHA:185
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Macroglossia, Apnea	OMIM:261740
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Osteomyelitis leading to amputation due to slow healing fractures, Increase...	OMIM:256810
Sepsis In Premature Infants	Dyspnea, Nasal flaring, Enterocolitis	ORPHA:90051
Frontofacionasal Dysplasia	Bifid uvula, Hypoplasia of the frontal bone, Orofacial cleft, Cleft upper lip	OMIM:229400
Kasabach-Merritt Phenomenon	Respiratory distress, Hypopnea	ORPHA:2330
Colchicine Poisoning	Respiratory distress	ORPHA:31824
Congenital Tracheomalacia	Intercostal retractions, Tracheomalacia, Apnea, Tracheoesophageal fistula, Esophageal atresia, Dy...	ORPHA:95430
Nocardiosis	Respiratory distress, Dyspnea, Anorexia	ORPHA:31204
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Narrow mouth, Macrotia	OMIM:614748
Aprosencephaly And Cerebellar Dysgenesis	Bifid uvula, Craniosynostosis	OMIM:601374
Complete Atrioventricular Septal Defect	Tachypnea, Intercostal retractions	ORPHA:1329
Alström Syndrome	Abnormal vestibular function, Progressive sensorineural hearing impairment, Short toe, Short fing...	ORPHA:64
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Xerostomia, Oral synechia, Oral-pharyngeal dysphagia, Respiratory distress, Oral mucosal blisters...	ORPHA:95455
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Intestinal malrotation, Cervical ribs	ORPHA:2255
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Genu valgum, Smooth philt...	OMIM:619321
Craniorachischisis	Bifid sternum, Anal atresia	ORPHA:63260
Eisenmenger Syndrome	Respiratory distress, Vertigo, Exertional dyspnea, Clubbing	ORPHA:97214
Leptospirosis	Respiratory distress, Anorexia	ORPHA:509
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Exertional dyspnea, Paroxysmal dyspnea, Apneic episodes in infancy	ORPHA:99125

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 Tshz1

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 Tshz1.

No publications found that use IMPC mice or data for Tshz1.

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
Tshz1^{tm459272(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Tshz1^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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