Gene Summary

Name:
epithelial splicing regulatory protein 1
Synonyms:
Rbm35a,  2210008M09Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
cleft palate Esrp1em1(IMPC)Mbp HOM E15.5 0.00
polydactyly Esrp1em1(IMPC)Mbp HOM E15.5 0.00
edema Esrp1em1(IMPC)Mbp HOM E15.5 0.00
decreased bone mineral density Esrp1em1(IMPC)Mbp HET Early adult 1.97×10-05
embryonic growth retardation Esrp1em1(IMPC)Mbp HOM E15.5 0.00
small kidney Esrp1em1(IMPC)Mbp HET Early adult 0.00
facial cleft Esrp1em1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Esrp1em1(IMPC)Mbp HOM E15.5 0.00
abnormal kidney morphology Esrp1em1(IMPC)Mbp HET Early adult 0.00
enlarged kidney Esrp1em1(IMPC)Mbp HET Early adult 0.00
abnormal limb morphology Esrp1em1(IMPC)Mbp HOM E15.5 0.00
decreased bone mineral content Esrp1em1(IMPC)Mbp HET Early adult 8.24×10-05
edema Esrp1em1(IMPC)Mbp HET E15.5 0.00
hemorrhage Esrp1em1(IMPC)Mbp HOM E15.5 0.00
preweaning lethality, complete penetrance Esrp1em1(IMPC)Mbp HOM   Early adult 0.00
embryonic growth retardation Esrp1em1(IMPC)Mbp HET E15.5 0.00
abnormal ovary morphology Esrp1em1(IMPC)Mbp HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

X-ray

XRay Images Whole Body Dorso Ventral

120 Images

Gross Morphology Embryo E14.5-E15.5

Images

26 Images

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

Gross Morphology Embryo E9.5

Images

7 Images

Human diseases caused by Esrp1 mutations

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

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

The table below shows human diseases associated to Esrp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 109
OMIM:618013

The table below shows human diseases predicted to be associated to Esrp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Syngnathia
Cleft palate OMIM:119550
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity OMIM:300830
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Cleft Soft Palate
Cleft soft palate OMIM:119570
Uvula, Bifid
Bifid uvula OMIM:192100
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:618830
Orofacial Cleft 14
Median cleft upper lip OMIM:615892
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Cleft upper lip, Irregular dentition, Cleft lower lip, Median cleft upper lip, Fusion o... ORPHA:401942
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Lipedema
Edema OMIM:614103
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate ORPHA:2736
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Disorganization, Mouse, Homolog Of
Cleft palate, Cleft upper lip OMIM:223200
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Abnormality of the dentition, Conical tooth, Small hand, Overlapping fingers, Soli... ORPHA:952
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Pierre Robin Syndrome
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Cleft Lip-Retinopathy Syndrome
Non-midline cleft of the upper lip ORPHA:1995
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Megaepiphyseal Dwarfism
Cleft palate OMIM:249230
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid... OMIM:618779
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Thomas Syndrome
Cleft palate, Cleft upper lip ORPHA:3316
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... OMIM:311895
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Median cleft upper lip, Bra... ORPHA:1794
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Small hand, Abnormal hand morphology, Short stature, Short foot, Cleft palate OMIM:300261
X-Linked Intellectual Disability, Siderius Type
Orofacial cleft, Cleft upper lip ORPHA:85287
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Birk-Barel Syndrome
Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum OMIM:612292
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft of the upper lip ORPHA:2007
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate... OMIM:601357
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... ORPHA:3269
Sprengel Deformity
Cleft palate ORPHA:3181
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Cleft palate, Syndactyly ORPHA:294975
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Anophthalmia Plus Syndrome
Tessier cleft, Deviation of finger, Bilateral cleft palate, Spina bifida, Non-midline cleft of th... ORPHA:1104
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia OMIM:614526
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Parietal Foramina 1
Cleft palate, Cleft upper lip OMIM:168500
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate ORPHA:1484
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Parc Syndrome
Cleft palate OMIM:600331
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Finger syndactyly, Tooth ... ORPHA:1786
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Short 5th finger, Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Small thenar ... OMIM:239800
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N... OMIM:620107
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft of the upper lip, Cleft palate ORPHA:85273
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Broad proximal phalanges of the hand, Cleft upper lip, Ethmoi... OMIM:607597
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Orofacial cleft, Widely-spaced maxillary central incisors... OMIM:601349
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Mmep Syndrome
Median cleft upper lip, Orofacial cleft ORPHA:3434
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608636
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence OMIM:620183
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Split hand/foot malformation 1 (SHFM1)
Median cleft upper lip, Cleft palate DECIPHER:46
Cerebrooculonasal Syndrome
Tessier cleft, Long philtrum, Widely spaced teeth, Microdontia, Solitary median maxillary central... ORPHA:66625
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate OMIM:619239
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Diprosopus
Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft upper lip, Bifid uvula, High palate OMIM:155145
Intellectual Developmental Disorder, X-Linked 90
Bifid uvula, High palate OMIM:300850
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b... OMIM:617412
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Cleft soft pal... OMIM:616331
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth, Absent uvula... OMIM:618529
Intellectual Developmental Disorder, Autosomal Recessive 44
Thin vermilion border, Bifid uvula, Long philtrum OMIM:615942
Amish Lethal Microcephaly
Cleft soft palate, Death in infancy ORPHA:99742
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Split-Hand/Foot Malformation 1
Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala... OMIM:183600
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Hyperactivity, Impulsivity OMIM:620448
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Glossoptosis, Submucous cleft hard palate ORPHA:3201
Genitopalatocardiac Syndrome
Micrognathia, Cleft palate, Cleft upper lip OMIM:231060
Adducted Thumbs Syndrome
High, narrow palate, High palate, Velopharyngeal insufficiency, Cleft palate OMIM:201550
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema OMIM:189800
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Cerebrooculofacioskeletal Syndrome 3
Edema, Intrauterine growth retardation, Talipes equinovarus, Rocker bottom foot, Cleft palate OMIM:616570
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu... OMIM:617927
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Micrognathia, Cleft palate ORPHA:2015
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, C... OMIM:249710
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:239500
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, Short stature, High palate, Cleft palate, Synda... OMIM:300484
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Short stature, Clinodactyly of the 5th finger, High p... ORPHA:376
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Craniofacial Microsomia 2
Bifid uvula, Submucous cleft palate OMIM:620444
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Submucous cleft hard palate, Cleft palate ORPHA:2189
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618709
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate OMIM:619122
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Cree Impaired Intellectual Development Syndrome
Cleft soft palate OMIM:606851
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Cleft palate, Non-midline cleft of the upper lip, Short mandibular rami OMIM:141400
Keratoconus Posticus Circumscriptus
Cleft palate, Cleft upper lip OMIM:244600
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
3Mc Syndrome 3
Tessier cleft, Clinodactyly, Cleft upper lip, Preaxial polydactyly, Radioulnar synostosis, Short ... OMIM:248340
Supernumerary Nostril
Tessier cleft ORPHA:141096
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft of the upper lip, Cleft palate ORPHA:2476
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, Micrognathia, Solitary median maxillary central incisor, High palate, Cleft palate OMIM:602418
Chromosome 15Q14 Deletion Syndrome
Cleft lip, Tented upper lip vermilion, Everted lower lip vermilion, Short philtrum, Cleft palate OMIM:616898
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Bifid uvula OMIM:132800
Polydactyly, Postaxial, Type A8
Short stature, Genu valgum, Postaxial polydactyly OMIM:618123
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Chromosome 22Q11.2 Duplication Syndrome
High palate, Velopharyngeal insufficiency OMIM:608363
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Frontonasal Dysplasia 3
Tessier cleft, Cleft palate OMIM:613456
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cleft upper lip OMIM:214300
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Intest... ORPHA:2712
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Microglossia, Micrognathia, Cleft palate ORPHA:141152
Oculocerebrocutaneous Syndrome
Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Oro... ORPHA:1647
Zechi-Ceide Syndrome
Cleft upper lip, Malar flattening, Cleft palate, Oligodontia OMIM:612916
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Encephalocele, Talipes equinovarus, Hand polydactyly, Cleft palat... OMIM:217100
Orofaciodigital Syndrome Iv
Toe syndactyly, Lobulated tongue, Short tibia, Clinodactyly, Hamartoma of tongue, Short finger, P... OMIM:258860
Mosaic Trisomy 9
Tessier cleft, Rocker bottom foot, Micromelia, Finger clinodactyly, Camptodactyly of finger, Inte... ORPHA:99776
Schilbach-Rott Syndrome
Bifid uvula, Narrow mouth, Submucous cleft hard palate OMIM:164220
Auriculocondylar Syndrome 4
Micrognathia, Glossoptosis, Narrow mouth, Cleft palate OMIM:620457
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Malar flattening, Cleft palate OMIM:183700
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Bardet-Biedl Syndrome 7
Clinodactyly, Narrow mouth, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, High pal... OMIM:618106
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate OMIM:609166
Buratti-Harel Syndrome
Bifid uvula, High palate, Velopharyngeal insufficiency, Submucous cleft hard palate OMIM:619314
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Charlie M Syndrome
Tooth agenesis, Narrow mouth, Thin vermilion border, Short philtrum, Non-midline cleft of the upp... ORPHA:1406
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Smooth philtrum, Short philtrum, Cleft soft palate ORPHA:293725
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Burn-Mckeown Syndrome
Bifid uvula, Cleft upper lip, Micrognathia, Narrow mouth, Thin vermilion border, Short philtrum, ... OMIM:608572
Orofaciodigital Syndrome Type 10
Cleft soft palate, Long philtrum, Accessory oral frenulum ORPHA:2756
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Submucous cleft hard palate ORPHA:2804
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Cleft... OMIM:618761
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft palate, Cleft upper lip OMIM:609654
Nemaline Myopathy 9
High palate, Micrognathia, Cleft palate OMIM:615731
Meckel Syndrome, Type 8
Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Focal Facial Dermal Dysplasia Type Iv
Cleft palate, Cleft upper lip ORPHA:398189
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Pai Syndrome
Median cleft upper lip, Bifid uvula, Abnormal oral frenulum morphology, Cleft palate ORPHA:1993
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Unilateral Ocular Duplication
Encephalocele, Median cleft upper lip, Polyhydramnios, Midline facial cleft, Cleft palate ORPHA:3374
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Cleft palate ORPHA:2901
Aarskog-Scott Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... ORPHA:915
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior OMIM:619150
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Bilateral cleft lip OMIM:616994
Carey-Fineman-Ziter Syndrome 2
High, narrow palate, Dental crowding, Velopharyngeal insufficiency, Long philtrum, Downturned cor... OMIM:619941
Heart-Hand Syndrome Type 2
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor... ORPHA:1350
Intellectual Disability, Wolff Type
Microretrognathia, Thick lower lip vermilion, Abnormal intestine morphology, Orofacial cleft, Non... ORPHA:3080
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Submucous cleft hard palate,... OMIM:614701
Frontofacionasal Dysplasia
Tessier cleft, Encephalocele, Short stature, Non-midline cleft of the upper lip, Cleft palate ORPHA:1791
Arthrogryposis, Distal, Type 3
Bifid uvula, High palate, Cleft palate, Submucous cleft hard palate OMIM:114300
Loeys-Dietz Syndrome 5
Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, Eosinophilic infiltrat... OMIM:615582
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, Flat acetabular roof, Hig... OMIM:614091
Intellectual Developmental Disorder, Autosomal Recessive 13
Smooth philtrum, Short philtrum, Downturned corners of mouth, Cleft upper lip OMIM:613192
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Intestinal malrotation, Micrognathia, Orofacial cleft, Deep philtrum, Incomplete cleft of the upp... ORPHA:77300
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:619470
16P11.2P12.2 Microduplication Syndrome
Cleft palate ORPHA:261204
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Cleft palate OMIM:612913
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Recurrent hand flapping, Motor stereotypy, Dysphagia OMIM:617862
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:2631
N-Acetylaspartate Deficiency
Motor stereotypy, Self-mutilation OMIM:614063
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Unilateral cleft lip, Thick lower lip vermilion, Submucous cleft hard palate, Unilateral cleft pa... OMIM:619103
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Cleft palate OMIM:300958
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Long philtrum, Tented upper lip vermilion, Submuc... OMIM:608670
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Meckel Syndrome, Type 11
Oligohydramnios, Occipital encephalocele, Polydactyly OMIM:615397
Holoprosencephaly 4
Median cleft upper lip, Median cleft palate OMIM:142946
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Long philtrum, Submucous cleft hard palate ORPHA:178303
Diamond-Blackfan Anemia 6
Bifid uvula, Retrognathia, Cleft upper lip, Micrognathia, Cleft palate OMIM:612561
Meckel Syndrome, Type 5
Cleft palate, Cleft upper lip OMIM:611561
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Malar flattening, Glossoptosis, Cleft palate ORPHA:166100
2Q24 Microdeletion Syndrome
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... ORPHA:1617
Developmental And Epileptic Encephalopathy 58
Motor stereotypy OMIM:617830
Joubert Syndrome 18
Occipital encephalocele, Intrauterine growth retardation, Trident pelvis, Bowing of the long bone... OMIM:614815
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Cerebrocostomandibular Syndrome
Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Cleft soft palate... OMIM:117650
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Cleft palate, Cleft upper lip OMIM:601076
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Long philtrum, Anteriorly placed anus, Submucous cleft hard palate, Thin upp... OMIM:612863
Idiopathic Hypercalciuria
Osteopenia, Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis, Osteoporosis ORPHA:2197
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Disinhibition OMIM:612069
Bamforth-Lazarus Syndrome
Cleft palate OMIM:241850
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth OMIM:183300
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft palate, Cleft upper lip OMIM:244200
Diaphanospondylodysostosis
Tracheomalacia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Absent in utero rib ossi... OMIM:608022
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Osteopenia, Osteoporosis ORPHA:397685
Orofaciodigital Syndrome Xvii
High, narrow palate, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of... OMIM:617926
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Micrognathia, Cleft palate ORPHA:1779
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Downturned corners of mouth, Submucous cleft hard palate OMIM:619680
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors OMIM:301107
Stickler Syndrome, Type I
Bifid uvula, Cleft palate, Submucous cleft hard palate, Pierre-Robin sequence OMIM:108300
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of th... OMIM:603194
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Broad thumb, Lip pit, Camptodactyly of finger, Bilateral single transverse palmar ... ORPHA:1236
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Phenobarbital Embryopathy
Unilateral cleft lip ORPHA:1919
Limb-Mammary Syndrome
Bifid uvula, Cleft lip, Submucous cleft soft palate, Hypodontia, Cleft hard palate, Cleft palate ORPHA:69085
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Tracheoesophageal fistula, Foot polydactyly, Hydrops fetalis, Sho... ORPHA:268249
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Native American Myopathy
Bifid uvula, Downturned corners of mouth, Submucous cleft soft palate, High palate, Cleft palate ORPHA:168572
Satb2-Associated Syndrome Due To A Pathogenic Variant
Bifid uvula, Abnormality of the dentition, Long philtrum, Thin upper lip vermilion, Smooth philtr... ORPHA:576283
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Dystonia-Deafness Syndrome 1
Cleft upper lip, Cleft palate OMIM:607371
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Smooth philtrum, Malar flattening, Cleft palate OMIM:611867
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Cleft palate OMIM:246560
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Disproportionate short stature, Arthralgia... ORPHA:1856
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Delayed eruption of teeth, Submucous cleft hard palate, Cleft p... ORPHA:2780
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Median cleft palate, Median cleft upper lip, Widely-spaced maxillary c... OMIM:136760
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Malar flattening, Ectopic anus, Short philtrum, Mandibular prognathi... ORPHA:94066
Intellectual Developmental Disorder, Autosomal Dominant 73
Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Cleft soft palate, Increased overb... OMIM:620450
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter OMIM:618718
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Motor stereotypy OMIM:617820
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft lip, Cleft upper lip, Micrognathia, Malar flattening, Microdontia, Anodontia, Hypodontia, A... OMIM:225060
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Bartsocas-Papas Syndrome 1
Tessier cleft, Anal stenosis, Hypoplastic scapulae, Absent thumb, Short thumb, Cleft upper lip, O... OMIM:263650
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Postnatal growth retardation, Polydactyly, Short stature, Clinodactyly of the 5t... ORPHA:231140
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal morphology of ulna, Split h... ORPHA:971
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:609425
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Submucous cleft soft palate ORPHA:2282
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Restlessness, Motor stereotypy OMIM:600795
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Submucous cleft hard palate OMIM:617660
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Microphthalmia, Syndromic 12
Intestinal malrotation, Cleft palate, Neonatal death OMIM:615524
Juberg-Hayward Syndrome
Anteriorly placed anus, Cleft upper lip OMIM:216100
Ichthyosis, Congenital, Autosomal Recessive 4B
Everted lower lip vermilion, Death in infancy, Neonatal death OMIM:242500
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Tarsal synostosis, Patellar... OMIM:147891
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Cleft palate, Miscarriage ORPHA:96181
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te... OMIM:617102
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth r... OMIM:600325
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Autosomal Recessive Amelia
Orofacial cleft, Non-midline cleft of the upper lip ORPHA:1027
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Collectionism, ... ORPHA:275864
Double Outlet Right Ventricle
Intestinal malrotation, Cleft palate, Narrow mouth, Submucous cleft hard palate ORPHA:3426
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Cleft palate OMIM:300263
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Median cleft upper lip, High palate, Cleft palate, Accessory oral f... OMIM:258865
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact... ORPHA:3098
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate OMIM:154500
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Pallister-Hall-Like Syndrome
Median cleft upper lip, Death in infancy, Microglossia, Cleft palate OMIM:241800
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Eclabion, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, C... OMIM:619950
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Dental crowding, Delayed eruption of teeth, Narrow mouth, Submucous cleft hard palat... OMIM:300990
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Malar flattening, Cleft palate, Pierre-Robin sequence OMIM:184840
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Fetal Akinesia Deformation Sequence 2
High palate, Micrognathia, Tented upper lip vermilion, Cleft palate OMIM:618388
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Hallux valgus, Cleft palate, Coxa valga, Contracture of the distal interphalangeal j... OMIM:216800
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Short distal phalanx of finger, Metaphyseal cupping, Hypoplastic scap... ORPHA:85166
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Torus palatinus ORPHA:2536
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft upper lip, Cleft palate, Tooth agenesis OMIM:147950
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Elbow disloc... ORPHA:90650
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Small placenta, Postnatal growth retardation, Intrauterine growth... ORPHA:397590
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Fractured rib, Osteopenia, Recurrent fractures, O... OMIM:618188
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Narrow mouth, Limited elbow extension, Irregular epiphyses of the metacar... OMIM:614078
Rudiger Syndrome
Ureterovesical stenosis, Ovarian cyst, Micropenis, Flexion contracture, Bicornuate uterus OMIM:268650
Meier-Gorlin Syndrome 5
Long philtrum, Submucous cleft hard palate, Thick vermilion border OMIM:613805
Myhre Syndrome
Bifid uvula, Gingival cleft, Unilateral cleft lip, Abnormal lip morphology, Narrow mouth, Submuco... ORPHA:2588
Zimmermann-Laband Syndrome 3
Bifid uvula, High palate, Gingival overgrowth, Thick lower lip vermilion OMIM:618658
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Mandibular prognathia, Malar flattening, Cleft palate OMIM:268850
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Hartsfield Syndrome
Non-midline cleft of the upper lip, Cleft palate ORPHA:2117
Rhizomelic Chondrodysplasia Punctata, Type 2
High palate, Submucous cleft hard palate OMIM:222765
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Thin upper lip vermilion, Short... OMIM:612530
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Postaxial hand polydactyly, Cle... OMIM:607361
Hyperparathyroidism 4
Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Nephrolithiasis OMIM:617343
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Joint hypermobility ORPHA:1875
Tetrasomy 12P
Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Blepharocheilodontic Syndrome 1
Hypodontia, Anal atresia, Conical tooth, Cleft upper lip OMIM:119580
2Q32Q33 Microdeletion Syndrome
Toe clinodactyly, Broad thumb, Dental crowding, Long philtrum, Narrow mouth, Oligodontia, Arachno... ORPHA:251019
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft upper lip, Cleft palate ORPHA:2165
Bamforth-Lazarus Syndrome
Retrognathia, Cleft palate ORPHA:1226
Limb-Mammary Syndrome
Bifid uvula, Joint contracture of the hand, Hypodontia, Hallux valgus, Split hand, Camptodactyly,... OMIM:603543
Terminal Osseous Dysplasia
Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Cam... OMIM:300244
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala... ORPHA:2250
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ... OMIM:232200
Distal Deletion 10P
Micrognathia, Ectopic anus, Anal atresia, Non-midline cleft of the upper lip, Cleft palate ORPHA:1580
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618906
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate OMIM:612290
Blepharonasofacial Malformation Syndrome
Long philtrum, Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1252
Treacher Collins Syndrome 4
Micrognathia, Malar flattening, Cleft palate OMIM:618939
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Splenomegaly, Nep... OMIM:232220
Abruzzo-Erickson Syndrome
Cleft palate OMIM:302905
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, High palate, Syndactyly, Accessory oral frenulum, Preaxial hand polyd... OMIM:252100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Downturned corners of mouth, Cleft upper lip, Anteriorly placed anus, Abnormal rectum morphology,... OMIM:239300
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Submucous cleft hard palate OMIM:619227
Schisis Association
Anal atresia, Tracheoesophageal fistula, Unilateral cleft lip, Cleft palate ORPHA:63862
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... OMIM:619736
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Bilateral cleft palate, Non-midline cleft of the upper lip, Tooth agenesis ORPHA:2003
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Lymphedema, Genu valgum, Polydactyly, Triangular mouth, Flatt... OMIM:607131
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Submucous cleft hard palate, Thin upper lip vermilion, High palate, Pyloric stenosis ORPHA:457279
Walker-Warburg Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:899
Treacher-Collins Syndrome
Tessier cleft, Abnormality of the dentition, Branchial fistula, Cleft upper lip, Tooth agenesis, ... ORPHA:861
Distal Monosomy 7Q36
Micrognathia, Wide mouth, Non-midline cleft of the upper lip, Cleft palate ORPHA:1636
Mullegama-Klein-Martinez Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long philtrum, Thin upper lip ve... OMIM:301022
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Bra... OMIM:605282
Tetraamelia Syndrome 2
Microretrognathia, Ankyloglossia, Micrognathia, Bilateral cleft lip, Glossoptosis, Cleft palate OMIM:618021
Isolated Dandy-Walker Malformation
Cleft palate ORPHA:217
Say Syndrome
Short distal phalanx of finger, Ulnar deviation of the 3rd finger, Short stature, Cleft palate, T... OMIM:181180
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Craniosynostosis, R... ORPHA:251004
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, Anencephaly, C... OMIM:614120
Smith-Magenis Syndrome
Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, Delayed eruption of primar... ORPHA:819
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Talipes equinovarus, Hi... OMIM:206920
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bifid uvula, Tented upper lip vermilion, Thin upper lip vermilion, Bilateral cleft lip, Smooth ph... OMIM:618622
Holoprosencephaly 11
Cleft lip, Cleft palate OMIM:614226
Lethal Recessive Chondrodysplasia
Micromelia, Flared elbow metaphyses, Limb undergrowth, Short long bone, Polyhydramnios, Macroglos... ORPHA:1423
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bone, Cleft upper lip, A... ORPHA:3253
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Cleft upper lip, Tented upper lip vermilion, Cleft palate OMIM:600987
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar de... OMIM:614175
Rapp-Hodgkin Syndrome
Bifid uvula, Conical tooth, Carious teeth, Hypoplasia of the maxilla, Velopharyngeal insufficienc... OMIM:129400
Naxos Disease
Cleft upper lip ORPHA:34217
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Pelger-Huet Anomaly
Abnormality of the dentition, Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Sho... OMIM:169400
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Abnormal palate morpho... ORPHA:245
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Open mouth, Submucous cleft hard palate, Cleft palate, Pierre-Robin... OMIM:192430
Multiple Epiphyseal Dysplasia Type 4
Radial bowing, Abnormal hand morphology, Dislocation of the femoral head, Genu valgum, Talipes eq... ORPHA:93307
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Hamartoma of tongue, Femoral bowing, Fi... OMIM:613091
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Tooth agenesis, Open bite, Microdontia, Mandibular prognathia, Cleft p... ORPHA:1248
Trisomy 8Q
Micrognathia, Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion, Bi... ORPHA:1752
Isolated Cleft Lip
Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Hypodontia, Bilateral... ORPHA:199302
Bartsocas-Papas Syndrome 2
Bilateral cleft lip, Micrognathia, Accessory oral frenulum, Bilateral cleft palate OMIM:619339
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Micrognathia, Cleft palate OMIM:312150
Waardenburg Syndrome Type 1
Cleft upper lip, Tented upper lip vermilion, Aganglionic megacolon, Mandibular prognathia, Cleft ... ORPHA:894
White Sponge Nevus 2
Edema OMIM:615785
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Recurrent hand flapping, Hyperactivity, Self-mutilation OMIM:615516
Culler-Jones Syndrome
Cleft palate, Cleft upper lip OMIM:615849
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Occipital encephalocele OMIM:213010
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Severe short stature, Disproportionate short-limb short stature, Clinodactyly, Genu valgum, Metap... OMIM:184250
Acromelic Frontonasal Dysostosis
Short tibia, Cleft upper lip, Preaxial hand polydactyly, Patellar hypoplasia, Preaxial foot polyd... OMIM:603671
Desmosterolosis
Bifid uvula, Intestinal malrotation, Narrow mouth, Submucous cleft hard palate, Cleft palate ORPHA:35107
Bartsocas-Papas Syndrome
Median cleft upper lip, Micrognathia, Narrow mouth, Cleft palate ORPHA:1234
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urin... ORPHA:2795
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Holoprosencephaly 13, X-Linked
Median cleft palate, Submucous cleft hard palate, Median cleft upper lip, Solitary median maxilla... OMIM:301043
Orofaciodigital Syndrome V
Bifid uvula, Hamartoma of tongue, Ankyloglossia, Thin upper lip vermilion, Median cleft upper lip... OMIM:174300
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Treacher Collins Syndrome 3
Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate OMIM:248390
Postaxial Acrofacial Dysostosis
Micrognathia, Malar flattening, Non-midline cleft of the upper lip, Cleft palate ORPHA:246
Lymphatic Malformation 5
Cleft palate OMIM:153200
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Smooth philtrum, Cleft soft palate, Downturned corners of mouth OMIM:619321
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormality of the dentition, Cleft upper lip OMIM:273400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Pectoral m... ORPHA:306542
Primary Dystonia, Dyt13 Type
Motor stereotypy ORPHA:98807
Otopalatodigital Syndrome, Type I