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Gene: Esrp1 MGI:1917326

Gene Summary

Name:

epithelial splicing regulatory protein 1

Synonyms:

Rbm35a, 2210008M09Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
embryonic growth retardation	Esrp1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal craniofacial morphology	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal limb morphology	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
decreased bone mineral content	Esrp1^em1(IMPC)Mbp	HET	Early adult	8.24×10^-05
abnormal ovary morphology	Esrp1^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Esrp1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased bone mineral density	Esrp1^em1(IMPC)Mbp	HET	Early adult	1.97×10^-05
hemorrhage	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
enlarged kidney	Esrp1^em1(IMPC)Mbp	HET	Early adult	0.00
cleft palate	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
small kidney	Esrp1^em1(IMPC)Mbp	HET	Early adult	0.00
polydactyly	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
edema	Esrp1^em1(IMPC)Mbp	HET	E15.5	0.00
embryonic growth retardation	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
edema	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
facial cleft	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal kidney morphology	Esrp1^em1(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

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X-ray

XRay Images Whole Body Dorso Ventral

120 Images

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Gross Morphology Embryo E14.5-E15.5

Images

26 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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Gross Morphology Embryo E9.5

Images

7 Images

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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.

Human diseases associated with Esrp1 (1 diseases)
Human diseases predicted to be associated with Esrp1 (1099 diseases)

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	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	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Short hallux, Dislocated radial head, H...	OMIM:311300
Neu-Laxova Syndrome	Bifid uvula, Submucous cleft hard palate, Everted lower lip vermilion, Abnormality of the philtru...	ORPHA:2671
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Preaxial hand polydactyly, Mirror...	ORPHA:2378
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Accessory oral frenulum, Preaxial han...	OMIM:277170
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Intrauterine growth retardation, Oligohydramnios, Brachydactyly, S...	ORPHA:2145
Verloove Vanhorick-Brubakk Syndrome	Micrognathia, Non-midline cleft of the upper lip, Cleft palate	ORPHA:3429
Galloway-Mowat Syndrome 7	Cleft lip, Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Single tra...	OMIM:618348
Tarp Syndrome	Rocker bottom foot, Meckel diverticulum, Subdural hemorrhage, Clinodactyly, Intrauterine growth r...	OMIM:311900
Hardikar Syndrome	Unilateral cleft lip, Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Bilatera...	OMIM:301068
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Natal tooth, Cardiomyopathy, Intrauterine growth retardation, Oligohydramnios,...	ORPHA:158687
Shukla-Vernon Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity	OMIM:301029
Fetal Alcohol Syndrome	Micrognathia, Microdontia, Thin upper lip vermilion, Smooth philtrum, Non-midline cleft of the up...	ORPHA:1915
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce...	OMIM:277000
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti...	OMIM:619827
Bardet-Biedl Syndrome 16	Short stature, Polydactyly	OMIM:615993
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever...	OMIM:616367
H Syndrome	Osteolysis, Hypogonadism, Decreased testicular size, Azoospermia, Recurrent fractures, Hepatosple...	ORPHA:168569
Stickler Syndrome Type 2	Cleft palate	ORPHA:90654
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Micrognathia, Cleft palate, Pierre-Robin sequence	OMIM:602196
Stickler Syndrome, Type Ii	High, narrow palate, Bifid uvula, Cleft palate, Pierre-Robin sequence	OMIM:604841
Endosteal Hyperostosis, Worth Type	Torus palatinus	ORPHA:2790
Opitz Gbbb Syndrome	Unilateral cleft lip, Cleft upper lip, Rectourethral fistula, Thin upper lip vermilion, Smooth ph...	OMIM:300000
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, High, narrow palate, Bifid uvula, Oral synechia, Perineal fistul...	ORPHA:2753
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Motor stereotypy, Compulsive behaviors, Stereotypical hand wringing	OMIM:618917
Glycosylphosphatidylinositol Biosynthesis Defect 11	Macroglossia, High palate, Tented upper lip vermilion	OMIM:616025
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion...	OMIM:602483
Hamel Cerebro-Palato-Cardiac Syndrome	Micrognathia, Narrow mouth, Malar flattening, Cleft palate	ORPHA:93946
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Disproportionate short-limb short stature, Micromelia, Long philtrum, Cleft upper ...	ORPHA:93271
Solitary Median Maxillary Central Incisor	Solitary median maxillary central incisor, Torus palatinus, Prominent median palatal raphe, Cleft...	OMIM:147250
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate	OMIM:614557
Facial Paresis, Hereditary Congenital, 3	Downturned corners of mouth, Micrognathia, Open mouth, Tented upper lip vermilion, Smooth philtru...	OMIM:614744
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Abnormal male internal genitalia morphology, Abnormal morphology of female interna...	ORPHA:2138
Chromosome 6Pter-P24 Deletion Syndrome	Dental crowding, Cleft upper lip, Abnormal dental morphology, Narrow mouth, Tented upper lip verm...	OMIM:612582
Oculoauriculovertebral Spectrum With Radial Defects	Orofacial cleft, Cleft palate, Ectopic anus, Wide mouth, Non-midline cleft of the upper lip, Shor...	ORPHA:2549
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Elbow flexion contracture, Renal insufficiency, Knee flexion contracture, Hydron...	OMIM:608836
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne...	OMIM:612287
3P25.3 Microdeletion Syndrome	High, narrow palate, Broad thumb, Downturned corners of mouth, Broad hallux, Proximal placement o...	ORPHA:435638
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Bifid uvula, Cleft lip, Downturned corners of mouth, Long philtrum, Narrow mouth, Everted lower l...	OMIM:618089
Braddock-Carey Syndrome 2	Wide mouth, Retrognathia, Cleft palate, Pierre-Robin sequence	OMIM:619981
Frontonasal Dysplasia 2	Conical tooth, Widely spaced teeth, Intrauterine growth retardation, Oligohydramnios, Tessier num...	OMIM:613451
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters	OMIM:619817
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic...	OMIM:617303
Branchioskeletogenital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Downturned corners of mouth, Anteriorly...	ORPHA:1299
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	High palate, Cleft palate, Tooth agenesis	ORPHA:1135
Kaposiform Lymphangiomatosis	Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, ...	ORPHA:464329
Axial Osteomalacia	Renal cyst, Increased bone mineral density, Osteomalacia	OMIM:109130
Baraitser-Winter Syndrome 1	Retrognathia, Long philtrum, Cleft upper lip, Thin upper lip vermilion, Orofacial cleft, Wide mouth	OMIM:243310
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda...	ORPHA:440354
Acrocephalopolydactylous Dysplasia	Pancreatic fibrosis, Hepatomegaly, Craniosynostosis, Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Trisomy 9P	Impacted tooth, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth	ORPHA:236
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of forearm, Short middle...	OMIM:616738
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Dental malocclusion, Open bite, Open mouth, Submucous cleft hard pa...	OMIM:115150
Aarskog-Scott Syndrome	Hypoplasia of the maxilla, Cleft upper lip, Hypodontia, Broad philtrum, Curved linear dimple belo...	OMIM:305400
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Dental crowding, Downturned corners of mouth, Long philtrum, Sand...	OMIM:615761
Myopathy, Centronuclear, 5	Bifid uvula, High palate, Narrow mouth	OMIM:615959
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Overlapping toe, Intrauterine growth retardation, Overlapping fingers, Post...	OMIM:618142
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Intrauterine growth retardation, Oligohydramnios, Abnormal morp...	ORPHA:2167
Acrofrontofacionasal Dysostosis	High palate, Cleft palate, Everted lower lip vermilion, Non-midline cleft of the upper lip	ORPHA:1784
Renal-Hepatic-Pancreatic Dysplasia 1	Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atre...	OMIM:208540
Trisomy 13	High, narrow palate, Abnormality of the dentition, Long philtrum, Malar flattening, Median cleft ...	ORPHA:3378
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Increased susceptibility to fractures, Ne...	OMIM:612286
Chromosome 3Pter-P25 Deletion Syndrome	Downturned corners of mouth, Long philtrum, Postnatal growth retardation, Intrauterine growth ret...	OMIM:613792
Recombinant 8 Syndrome	Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Gingival overgrowth, ...	ORPHA:96167
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
Achondrogenesis, Type Ii	Disproportionate short-limb short stature, Long philtrum, Broad long bones, Short tubular bones o...	OMIM:200610
Diamond-Blackfan Anemia	Adenocarcinoma of the colon, Cleft lip, High palate, Cleft soft palate	ORPHA:124
Orofaciodigital Syndrome X	Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa...	OMIM:165590
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef...	OMIM:618874
Atelosteogenesis Type Ii	Elbow dislocation, Genu valgum, Bilateral cleft palate, Broad phalanx, Bilateral talipes equinova...	ORPHA:56304
16P13.11 Microdeletion Syndrome	Cleft upper lip, Exaggerated cupid's bow, Thin upper lip vermilion, Smooth philtrum, Wide mouth, ...	ORPHA:261236
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Enlarged kidney, Cystic renal dysplasia	OMIM:615415
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Bifid uvula, Disproportionate short stature, Dumbbell-shaped femur, Sandal ...	ORPHA:1427
Schneckenbecken Dysplasia	Hypoplastic scapulae, Disproportionate short-limb short stature, Umbilical hernia, Advanced tarsa...	OMIM:269250
Atelosteogenesis, Type Iii	Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Sandal gap, Elbow dislocation, Ti...	OMIM:108721
Distal Limb Deficiencies-Micrognathia Syndrome	Microglossia, Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wrist, Tarsal sy...	ORPHA:1307
Fryns Syndrome	Long philtrum, Duodenal atresia, Intestinal malrotation, Micrognathia, Tented upper lip vermilion...	ORPHA:2059
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Bidirectional ventricular ectopy, High palate, Short foot, Short meta...	OMIM:170390
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney	OMIM:314390
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Cardioacrofacial Dysplasia 1	Conical tooth, Diastema, Genu valgum, Postaxial polydactyly, Limb undergrowth, Short philtrum, Ac...	OMIM:619142
Hemihyperplasia-Multiple Lipomatosis Syndrome	Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney, Nephroblastoma	ORPHA:276280
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Unilateral cleft lip, Micrognathia, Malar flattening, Oligodontia, Supernume...	ORPHA:1787
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Polyhydramnios, Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:620292
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Flat acetabular roof, Advanced o...	OMIM:615777
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,...	OMIM:130650
Biemond Syndrome Type 2	Short stature, Delayed puberty, Preaxial polydactyly	ORPHA:141333
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Stage 5 chronic kidney disease, Gout, Increased susceptibility to f...	ORPHA:79259
17Q12 Microduplication Syndrome	Toe syndactyly, Finger syndactyly, Tracheoesophageal fistula, Polyhydramnios, Cleft palate	ORPHA:261272
Orofacial Cleft 15	Bilateral cleft lip, Palate fistula, Agenesis of lateral incisor, Bilateral cleft palate	OMIM:616788
Emanuel Syndrome	Broad jaw, Bifid uvula, Tooth malposition, Submucous cleft lip, Dental crowding, Delayed eruption...	ORPHA:96170
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Submucous cleft hard palate, Microdontia, Thin upper lip vermilion, Deep philtrum, Thin lower lip...	OMIM:619194
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Hypoplastic ischia, Polydactyly	OMIM:616910
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conical tooth, Cleft lip, Hypoplasia of the maxilla, Selective tooth agenesis, Cleft upper lip, W...	OMIM:106260
Dubowitz Syndrome	Carious teeth, Delayed eruption of teeth, Velopharyngeal insufficiency, Agenesis of permanent tee...	OMIM:223370
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Mild postnatal growth retardation, Pleural...	OMIM:265300
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Postaxial Acrofacial Dysostosis	Conical tooth, Cleft upper lip, Micrognathia, Malar flattening, Midgut malrotation, Cleft palate,...	OMIM:263750
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Dental crowding, Widely spaced teeth, Open mouth, Narrow mouth, Submucous cl...	OMIM:300967
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Narrow mouth, Talipes equinovarus, Short hallux, Small thenar eminence, High palate,...	OMIM:268305
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Aggressive behavior, Hyperactivity	ORPHA:382
Branchio-Oculo-Facial Syndrome	Upper lip pit, Tooth agenesis, Microdontia, Orofacial cleft, Deep philtrum, Everted lower lip ver...	ORPHA:1297
Suleiman-El-Hattab Syndrome	Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Clinodactyly, Single trans...	OMIM:618950
Ellis-Van Creveld Syndrome	Natal tooth, Delayed eruption of teeth, Cleft upper lip, Hypodontia, Abnormal alveolar ridge morp...	OMIM:225500
Ear-Patella-Short Stature Syndrome	High, narrow palate, Bifid uvula, Narrow mouth, Submucous cleft hard palate, Thick vermilion bord...	ORPHA:2554
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Carpal synostosis, Abnormality of the wrist, Tarsal synostosis, Cle...	ORPHA:2010
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Motor stereotypy	OMIM:617393
Autism Spectrum Disorder Due To Auts2 Deficiency	Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperactivity, Compulsi...	ORPHA:352490
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Cleft upper lip, Malar flattening, Oligodontia, Wide mouth, Cleft palate	OMIM:201180
Nabais Sa-De Vries Syndrome, Type 2	Micrognathia, Bilateral cleft palate, Bilateral cleft lip, Thin vermilion border, High palate	OMIM:618829
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ...	ORPHA:3109
Arthrogryposis And Ectodermal Dysplasia	Cleft upper lip, Abnormal dental enamel morphology, Oligodontia, Orofacial cleft, Cleft palate	OMIM:601701
Lopes-Maciel-Rodan Syndrome	Motor stereotypy, Bruxism, Dysphagia, Agitation	OMIM:617435
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo...	ORPHA:404440
Triploidy	Intestinal malrotation, Micrognathia, Narrow mouth, Macroglossia, Wide mouth, Non-midline cleft o...	ORPHA:3376
Ivic Syndrome	Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ...	OMIM:147750
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1770
Fraser Syndrome 1	Tessier cleft, Dental malocclusion, Dental crowding, Cleft upper lip, Myelomeningocele, Cutaneous...	OMIM:219000
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic rickets, Renal insuffi...	OMIM:276700
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Pyloric stenosis, Cleft soft palate, Supernumerary tooth, Widely spaced teeth	ORPHA:268261
Orofaciodigital Syndrome Type 6	Midline notch of upper alveolar ridge, Finger clinodactyly, Preaxial polydactyly, Hamartoma of to...	ORPHA:2754
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Cleft palate	OMIM:614838
Bohring-Opitz Syndrome	Retrognathia, Cleft upper lip, Intestinal malrotation, Micrognathia, Narrow mouth, Bilateral clef...	OMIM:605039
3Mc Syndrome 2	Downturned corners of mouth, Cleft upper lip, Prominence of the premaxilla, Broad philtrum, High ...	OMIM:265050
Foxg1 Syndrome	Bruxism, Paroxysmal bursts of laughter, Motor stereotypy, Stereotypical hand wringing	ORPHA:561854
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Tented upper lip vermilion, Polydactyly, Thin upper lip vermilio...	ORPHA:313781
Chromosome 18Q Deletion Syndrome	Bifid uvula, Downturned corners of mouth, Cleft upper lip, Malar flattening, Thin upper lip vermi...	OMIM:601808
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Bifid uvula, Abnormal dental enamel morphology, Submucous cleft hard palate,...	ORPHA:2658
Baker-Gordon Syndrome	Self-injurious behavior, Motor stereotypy	OMIM:618218
Popliteal Pterygium Syndrome	Bifid uvula, Fibrous syngnathia, Cleft upper lip, Lower lip pit, Cleft palate	OMIM:119500
Endosteal Hyperostosis, Autosomal Dominant	Torus palatinus, Dental malocclusion	OMIM:144750
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Wide mouth, Broad philtrum, Cleft palate	ORPHA:1394
Intellectual Developmental Disorder, Autosomal Dominant 45	Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:617600
Autosomal Dominant Popliteal Pterygium Syndrome	Lip pit, Fibrous syngnathia, Micrognathia, Thin upper lip vermilion, Non-midline cleft of the upp...	ORPHA:1300
Orofaciodigital Syndrome I	Carious teeth, Microretrognathia, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis o...	OMIM:311200
Holoprosencephaly 2	Bifid uvula, Median cleft palate, Submucous cleft hard palate, Bilateral cleft palate, Median cle...	OMIM:157170
Zaki Syndrome	Median pseudocleft lip, Micrognathia, High palate, Short philtrum, Wide mouth	OMIM:619648
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Anal atresia...	OMIM:146510
Histidinemia	Hyperactivity	ORPHA:2157
Syngap1-Related Developmental And Epileptic Encephalopathy	Narrow mouth, Postaxial polydactyly, Thin vermilion border, High palate, Wide mouth	ORPHA:544254
Endocrine-Cerebroosteodysplasia	Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Thick upper lip vermilion, Fibular bow...	OMIM:612651
Cardiofaciocutaneous Syndrome	High palate, Long philtrum, Submucous cleft hard palate	ORPHA:1340
Laurence-Moon Syndrome	Short stature, Abnormality of the hand, Polydactyly	OMIM:245800
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620502
Nephronophthisis 15	Polydactyly	OMIM:614845
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter	ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Obsessive-compul...	OMIM:618825
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror image foot polydactyl...	OMIM:119800
Isotretinoin Embryopathy-Like Syndrome	Cleft palate	OMIM:243440
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly	OMIM:600151
Osteopathia Striata With Cranial Sclerosis	Bifid uvula, Anal stenosis, Natal tooth, Dental malocclusion, Dental crowding, Cleft upper lip, T...	OMIM:300373
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hypoplastic facial bones, Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Incompl...	OMIM:616300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, Narrow mouth, High palate, Short philtrum, Cleft palate, Pyloric stenosis	ORPHA:96184
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Bruxism, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor ster...	OMIM:618342
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta	ORPHA:64754
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Protruding tongue, Death in childhood, Alveolar ridge overgrowth, Thin vermilion bor...	OMIM:612938
Orofaciodigital Syndrome Iii	Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules	OMIM:258850
Tolchin-Le Caignec Syndrome	High palate, Narrow mouth, Submucous cleft hard palate	OMIM:618971
Isotretinoin Syndrome	Micrognathia, Cleft palate	ORPHA:2305
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Broad thumb, Prominent fingertip pads, Long philtrum, Genu valgum, Arachnodactyly, Postaxial poly...	OMIM:619721
Dubowitz Syndrome	Abnormality of the dentition, Anal stenosis, Delayed eruption of teeth, Submucous cleft hard pala...	ORPHA:235
Alg9-Cdg	Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hypoplastic nipples,...	ORPHA:79328
Intellectual Developmental Disorder, Autosomal Dominant 7	Inappropriate laughter, Motor stereotypy, Hyperactivity, Stereotypical hand wringing	OMIM:614104
Opitz-Kaveggia Syndrome	Anal stenosis, Dental crowding, Long philtrum, Cleft upper lip, Thick lower lip vermilion, Intest...	OMIM:305450
Bardet-Biedl Syndrome 19	Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly	OMIM:615996
Genitopalatocardiac Syndrome	Micrognathia, Non-midline cleft of the upper lip, Cleft palate, Downturned corners of mouth	ORPHA:2075
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Smooth philtrum, Syndactyly	OMIM:602501
Lymphoid Interstitial Pneumonia	Hepatomegaly, Rheumatoid arthritis, Enlarged kidney	ORPHA:79128
Intellectual Developmental Disorder, X-Linked 107	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity	OMIM:301013
Meacham Syndrome	Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, En...	OMIM:608978
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Elbow flexion contracture, Furrowed tongue, Open mouth, Narrow mouth,...	OMIM:615065
Omodysplasia 2	Long philtrum, Micrognathia, Tented upper lip vermilion, Bilateral cleft lip, Cleft palate	OMIM:164745
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Short tibia, Finger synda...	ORPHA:1106
Oculodentodigital Dysplasia	Carious teeth, Selective tooth agenesis, Cleft upper lip, Microdontia, Taurodontia, Enamel hypopl...	OMIM:164200
Marden-Walker Syndrome	Bifid uvula, Narrow mouth, Submucous cleft hard palate, Cleft palate, Pyloric stenosis	ORPHA:2461
Phocomelia, Schinzel Type	High, narrow palate, Finger aplasia, Disproportionate short stature, Radial bowing, Micromelia, E...	ORPHA:2879
Kapur-Toriello Syndrome	Intestinal malrotation, Cleft upper lip, Cleft palate	OMIM:244300
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Agenesis of permanent te...	OMIM:619503
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Thoracoabdominal Syndrome	Cleft palate, Cleft upper lip	OMIM:313850
Branchiootic Syndrome	Lip pit, Micrognathia, Branchial fistula, Cleft palate	ORPHA:52429
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o...	ORPHA:449395
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Cleft palate	ORPHA:33001
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	High palate, Cleft lip	OMIM:612702
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate	OMIM:618891
Zttk Syndrome	Bifid uvula, Abnormality of the dentition, Downturned corners of mouth, Narrow mouth, Submucous c...	OMIM:617140
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Death in childhood, Cleft palate	OMIM:600460
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Polyhydramnios, Postaxial polydactyly, Br...	OMIM:615503
Chromosome 2Q37 Deletion Syndrome	Self-injurious behavior, Stereotypical hand wringing, Skin-picking, Aggressive behavior, Hyperact...	OMIM:600430
Neu-Laxova Syndrome 2	Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Spina bifida, Polyhydramnios,...	OMIM:616038
Nephrotic Syndrome, Type 11	Cleft lip, Dilated cardiomyopathy, Clinodactyly, Partial duplication of thumb phalanx, Arachnodac...	OMIM:616730
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Motor stereotypy	OMIM:615637
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia	OMIM:617695
Mucolipidosis Ii Alpha/Beta	Osteopenia, Limitation of joint mobility, Pathologic fracture, Splenomegaly, Cardiomegaly, Hepato...	OMIM:252500
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Abnormal zygomatic bone morphology, Mandibular prognathia, Malar flattening, Unilateral cleft lip	ORPHA:2511
Warty Dyskeratoma	Oral mucosa nodule, Abnormal hard palate morphology, Neoplasm of the tongue, Focal epithelial hyp...	ORPHA:69745
Aminopterin/Methotrexate Embryofetopathy	Micrognathia, Mandibular prognathia, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1908
Chromosome 15Q25 Deletion Syndrome	Thin vermilion border, Cleft upper lip, Tented upper lip vermilion, Cleft palate	OMIM:614294
Koolen-De Vries Syndrome	Cleft upper lip, Widely spaced teeth, Open mouth, Everted lower lip vermilion, High palate, Narro...	OMIM:610443
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste...	ORPHA:313892
Joubert Syndrome 27	Polydactyly, Thick lower lip vermilion	OMIM:617120
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han...	OMIM:615994
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Edema, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb shortenin...	ORPHA:2347
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Thin upper lip vermilion, Bifid uvula, Narrow palate, Wide mouth	OMIM:620428
Pitt-Hopkins-Like Syndrome 1	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:610042
Viss Syndrome	High, narrow palate, Bifid uvula, Broad uvula, Celiac disease, Intestinal malrotation, Chronic ga...	OMIM:619472
Temple Syndrome	Short philtrum, Bifid uvula, High palate, Cleft palate	OMIM:616222
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618504
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Nonimmune hydrops fetalis, Brachydactyly, Short stature, Cleft palate	OMIM:618265
Acromelic Frontonasal Dysplasia	Median cleft upper lip, Wide mouth, Median cleft palate	ORPHA:1827
Distal Deletion 17Q	Narrow mouth, Abnormality of the philtrum, Aplasia/Hypoplasia of the uvula	ORPHA:1597
Septooptic Dysplasia	Short stature, Polydactyly, Short finger	OMIM:182230
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ...	ORPHA:90652
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Hydranencephaly, Microglossia, Camptodactyly of finger,...	ORPHA:2839
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Meckel Syndrome, Type 6	Cleft upper lip, Cleft palate	OMIM:612284
Joubert Syndrome 14	Growth delay, Open mouth, Encephalocele, Tented upper lip vermilion, Short philtrum, Postaxial po...	OMIM:614424
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla...	ORPHA:989
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Hama...	ORPHA:137888
X-Linked Intellectual Disability, Cantagrel Type	Motor stereotypy	ORPHA:85277
Vici Syndrome	Everted upper lip vermilion, Long philtrum, Cleft upper lip, Micrognathia, Median cleft palate, M...	OMIM:242840
Renal Agenesis, Bilateral	Abnormal intestine morphology, Tracheoesophageal fistula, Non-midline cleft of the upper lip, Cle...	ORPHA:1848
Cornelia De Lange Syndrome 1	High, narrow palate, Downturned corners of mouth, Delayed eruption of teeth, Cleft upper lip, Wid...	OMIM:122470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Heparan sulfate excretion in urine, Joint stiffness, Urinary glycosaminoglycan excretion, Heavy p...	ORPHA:505248
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Short philtrum, Natal tooth, Cleft palate	OMIM:617337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Macroglossia, Cleft upper lip, Death in infancy, Cleft palate	OMIM:613150
Congenital Sialidosis Type 2	Umbilical hernia, Ascites, Abnormal EKG, Gingival overgrowth, Protruding tongue, Polydactyly, Tel...	ORPHA:93400
Pseudotrisomy 13 Syndrome	Median cleft upper lip, Anal atresia, Median cleft palate, Cleft upper lip	OMIM:264480
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Lymphedema, Oligohydramnios, Abnormal intestine morphology, Bowing ...	ORPHA:1318
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Delayed eruption of teeth, Thick upper lip vermilion, Intrauterine...	OMIM:247200
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Bifid uvula, Broad philtrum	ORPHA:2872
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Holoprosencephaly 9	Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners ...	OMIM:610829
Isolated Arrhinia	Tessier cleft	ORPHA:1134
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Oligohydram...	OMIM:251230
Orofaciodigital Syndrome Type 1	Abnormality of the dentition, Odontogenic neoplasm, Lip pit, Lobulated tongue, Tongue nodules, Hy...	ORPHA:2750
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Ulnar bowing, Single tra...	OMIM:617866
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Oculodentodigital Dysplasia	Broad alveolar ridges, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Prematur...	ORPHA:2710
Thrombocytopenia-Absent Radius Syndrome	Hip dislocation, Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypopla...	ORPHA:3320
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Micrognathia, Cleft palate	OMIM:153400
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Postnatal growth retardation, Polydactyl...	ORPHA:531151
Smith-Magenis Syndrome	Head-banging, Onychotillomania, Self-mutilation, Hyperactivity, Self hugging, Motor stereotypy	OMIM:182290
Acrocardiofacial Syndrome	Death in infancy, Anal atresia, Cleft palate, Cleft upper lip	ORPHA:2008
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Tarsal synostosis, Absent phalangeal crease, Cleft palate	OMIM:618469
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Corneal Dystrophy, Fuchs Endothelial, 2	Edema	OMIM:610158
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Cleft palate	OMIM:606164
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Aggressive behavior, ...	ORPHA:449291
Osteopetrosis, Autosomal Dominant 1	Torus palatinus	OMIM:607634
Zimmermann-Laband Syndrome	Bifid uvula, Anterior open-bite malocclusion, Supernumerary tooth, Hypodontia, Macroglossia, High...	ORPHA:3473
Steinfeld Syndrome	Median cleft upper lip, Bifid uvula, Median cleft palate	OMIM:184705
Tonne-Kalscheuer Syndrome	Widely spaced teeth, Narrow mouth, Velopharyngeal insufficiency, Downturned corners of mouth	OMIM:300978
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Aggressive behavior, Motor stereotypy, Hyperactivity	ORPHA:391307
Holoprosencephaly 1	Short stature, Median cleft palate, Median cleft upper lip, Tessier cleft	OMIM:236100
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Childhood Disintegrative Disorder	Motor stereotypy	ORPHA:168782
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Occipital meningocele, ...	OMIM:616546
Inverted Duplicated Chromosome 15 Syndrome	Aggressive behavior, Motor stereotypy, Hyperactivity, Self-biting	ORPHA:3306
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor tics, Motor stereotypy	OMIM:619725
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Hyperactivity	ORPHA:85327
Leprechaunism	Nephrocalcinosis, Long penis, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hype...	ORPHA:508
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Bowing of the long bones, Postaxial hand polydact...	OMIM:611134
Retinitis Pigmentosa 89	Postaxial polydactyly, Esophageal varix	OMIM:618955
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Long philtrum, Postaxial polydactyly, Brachydactyly, Hypoplasia of ...	OMIM:617895
Houge-Janssens Syndrome 2	Broad hallux, Deviation of the 5th finger, Tented upper lip vermilion, Open mouth, Postaxial poly...	OMIM:616362
Joubert Syndrome 23	Polydactyly	OMIM:616490
Christianson Syndrome	Inappropriate laughter, Motor stereotypy, Dysphagia	ORPHA:85278
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:620242
Severe Intellectual Disability And Progressive Spastic Paraplegia	Motor stereotypy	ORPHA:280763
Frontofacionasal Dysplasia	Bifid uvula, Hypoplasia of the frontal bone, Cleft upper lip, Malar flattening, Orofacial cleft	OMIM:229400
Nijmegen Breakage Syndrome	Anal stenosis, Cleft upper lip, Malar prominence, Micrognathia, Deep philtrum, Sinusitis, Anal at...	OMIM:251260
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Cleft palate	ORPHA:1790
Campomelic Dysplasia	Carious teeth, Long philtrum, Narrow mouth, Irregular dentition, Submucous cleft hard palate, Hig...	OMIM:114290
Microphthalmia, Syndromic 2	Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Persistence of primar...	OMIM:300166
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Dental malocclusion, Velopharyngeal insufficiency	OMIM:613680
Holoprosencephaly 7	Hypoplasia of the premaxilla, Unilateral cleft lip, Median cleft palate, Bilateral cleft palate, ...	OMIM:610828
Cardiac-Urogenital Syndrome	Tracheomalacia, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Penoscrotal hypospadias, Am...	OMIM:618280
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Patellar aplasia, Bi...	ORPHA:3103
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Motor stereotypy, Hyperactivity	ORPHA:530983
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Downturned corners of mouth, Submucous cleft soft palate, Smooth philtrum, Thin verm...	ORPHA:500150
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Bifid uvula, Downturned corners of mouth, Long philtrum, Thin upper lip vermilion, Short philtrum	OMIM:619121
Stickler Syndrome	Bifid uvula, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Cleft upper lip, Open b...	ORPHA:828
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bifid uvula, Neoplasm of the tongue, Submucous cleft hard palate	ORPHA:3047
Ovarian Fibrothecoma	Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification, Ovarian fibroma	ORPHA:314478
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Micrognathia, Unilateral cleft lip, Cleft palate	OMIM:616897
Rhombencephalosynapsis	Finger syndactyly, Narrow mouth, Polydactyly, Aganglionic megacolon, Tracheoesophageal fistula, E...	ORPHA:59315
Holoprosencephaly 3	Solitary median maxillary central incisor, Bifid uvula, Cleft lip, Cleft palate	OMIM:142945
Galloway-Mowat Syndrome 6	Paroxysmal bursts of laughter, Motor stereotypy	OMIM:618347
Crane-Heise Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, Finger s...	ORPHA:1512
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Restrictive Dermopathy 1	Natal tooth, Narrow mouth, Submucous cleft hard palate, Neonatal death, Stillbirth	OMIM:275210
Functioning Gonadotropic Adenoma	Osteopenia, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation...	ORPHA:91348
Coffin-Siris Syndrome 6	Tics, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617808
Tarp Syndrome	Rocker bottom foot, Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Intrauterine ...	ORPHA:2886
Kyphomelic Dysplasia	Cleft upper lip, Micrognathia, Cleft palate	OMIM:211350
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hypoplasia of the maxilla, Cleft upper lip, Gingival overgrowth, Micrognathia, Recurrent sinusiti...	OMIM:213980
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, T...	ORPHA:363444
Xq28 (MECP2) duplication	Motor stereotypy, Dysphagia	DECIPHER:45
Temple Syndrome	Bifid uvula	ORPHA:254516
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Hypodontia, High palate	OMIM:612350
Alazami Syndrome	Abnormal eating behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing	ORPHA:319671
Moebius Syndrome	Aplasia of the pectoralis major muscle, Aplasia/Hypoplasia of the radius, Finger syndactyly, Apla...	ORPHA:570
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Intrauterine growth retardation, Postaxial polydactyly, Enam...	OMIM:614576
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Encephalocele, Postaxial hand polydactyly	OMIM:611560
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Abnormal pancreas morphology, Vesicoureteral reflux, Cryptorchidism, ...	ORPHA:116
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re...	ORPHA:731
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Renal agenesis, Abnormal vagina morphology	ORPHA:247768
Potocki-Lupski Syndrome	Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia	OMIM:610883
Faciocardiorenal Syndrome	Smooth philtrum, Hypodontia, Narrow mouth, Cleft palate	ORPHA:1973
Acrofacial Dysostosis 1, Nager Type	Velopharyngeal insufficiency, Cleft upper lip, Retrognathia, Temporomandibular joint ankylosis, M...	OMIM:154400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Abnormality of the dentition, Small hand, Long philtrum, Postaxial polydactyly, Smoo...	OMIM:300968
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Aicardi Syndrome	Cleft upper lip, Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Short philtru...	ORPHA:50
Joubert Syndrome 15	Exencephaly, Preaxial polydactyly	OMIM:614464
Meckel Syndrome 14	Postaxial foot polydactyly, Occipital encephalocele, Tricuspid regurgitation, Oligohydramnios, In...	OMIM:619879
Catel-Manzke Syndrome	Bifid uvula, Cleft upper lip, Micrognathia, Narrow mouth, High palate, Glossoptosis, Cleft palate...	OMIM:616145
5Q14.3 Microdeletion Syndrome	Motor stereotypy	ORPHA:228384
Lymphatic Malformation 6	Facial edema, Periorbital edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural eff...	OMIM:616843
Alg3-Cdg	Macroglossia, High palate, Abnormal uvula morphology	ORPHA:79321
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Disproportionate short-limb short stature, Micromelia, Ly...	ORPHA:3144
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact...	OMIM:300986
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Intrauterine growth retardation, Oligohydramnios	OMIM:615824
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bifid uvula, Cleft palate, Submucous cleft hard palate, Thick vermilion border	ORPHA:2636
Hartsfield Syndrome	Median cleft upper lip, Cleft upper lip, Hypoplasia of the frontal bone, Cleft palate	OMIM:615465
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Recurrent hand flapping, Aggressive behavior, Attention deficit hyperactivity disorder, Tongue th...	OMIM:619580
Nail-Patella Syndrome	Cleft upper lip, Cleft palate	OMIM:161200
3Mc Syndrome 1	Cleft upper lip, Cleft lip, Dental crowding, Cleft palate	OMIM:257920
Autosomal Recessive Centronuclear Myopathy	Bifid uvula, High palate, Narrow mouth	ORPHA:169186
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Median cleft upper...	OMIM:269860
Basal Cell Nevus Syndrome 1	Cleft upper lip, Odontogenic keratocysts of the jaw, Hamartomatous stomach polyps, Mandibular pro...	OMIM:109400
Mesomelia-Synostoses Syndrome	High, narrow palate, Long philtrum, Aplasia/Hypoplasia of the uvula, Narrow mouth, Abnormal oral ...	ORPHA:2496
Pentalogy Of Cantrell	Orofacial cleft, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1335
Bardet-Biedl Syndrome 1	High, narrow palate, Postaxial foot polydactyly, Dental crowding, Radial deviation of finger, Pos...	OMIM:209900
Bor Syndrome	Branchial cyst, Cleft palate, Retrognathia	ORPHA:107
Hijazi-Reis Syndrome	Motor stereotypy	OMIM:301094
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Camptodactyly, Renal malrotation, Enl...	ORPHA:500095
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Compulsive behaviors, Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:618430
Satoyoshi Syndrome	Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u...	ORPHA:3130
Holoprosencephaly	Hypoplasia of the zygomatic bone, Tooth agenesis, Branchial anomaly, Median cleft palate, Median ...	ORPHA:2162
Cerebrooculonasal Syndrome	Narrow palate, Downturned corners of mouth, Long philtrum, Postnatal growth retardation, Encephal...	OMIM:605627
Developmental And Epileptic Encephalopathy 6B	Motor stereotypy	OMIM:619317
Van Den Ende-Gupta Syndrome	Long metacarpals, Hypoplastic scapulae, Joint contracture of the hand, Long hallux, Narrow mouth,...	OMIM:600920
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Genu valgum, Mitral regurgitation, Everted lower lip ve...	OMIM:615873
Neuroocular Syndrome 1	Short uvula, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, Submucous cleft har...	OMIM:619539
Cranioectodermal Dysplasia 2	Mesomelia, Rhizomelia, Clinodactyly, Widely spaced teeth, Polyhydramnios, Microdontia, Polydactyl...	OMIM:613610
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst, Uterine leiomyoma	OMIM:617100
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Motor stereotypy	ORPHA:529965
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia	ORPHA:208447
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Median pseudocleft lip, Wide mouth, Retrognathia	OMIM:619758
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, High palate, Villous atrophy	OMIM:601110
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed...	ORPHA:261537
Fryns Syndrome	Microretrognathia, Meckel diverticulum, Cleft upper lip, Long philtrum, Intestinal malrotation, T...	OMIM:229850
Duane-Radial Ray Syndrome	Anal stenosis, Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Preaxial poly...	OMIM:607323
Wiedemann-Rautenstrauch Syndrome	Abnormality of the dentition, Natal tooth, Downturned corners of mouth, Narrow mouth, Submucous c...	ORPHA:3455
Mowat-Wilson Syndrome	Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed...	ORPHA:2152
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis	ORPHA:722
Joubert Syndrome 37	Short stature, High palate, Postaxial polydactyly	OMIM:619185
Mckusick-Kaufman Syndrome	Postaxial foot polydactyly, Finger syndactyly, Tarsal synostosis, Aganglionic megacolon, Ectopic ...	ORPHA:2473
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Mesomelia, Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial han...	OMIM:263520
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Craniofrontonasal Syndrome	Abnormality of the dentition, Cleft upper lip, Cleft palate	OMIM:304110
Coffin-Siris Syndrome 7	Compulsive behaviors, Severe temper tantrums, Motor stereotypy, Hyperactivity	OMIM:618027
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Motor stereotypy	OMIM:619092
Orofaciodigital Syndrome Type 3	Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition, Lobulated to...	ORPHA:2752
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Hip subluxation, Overlapping toe, Clinod...	ORPHA:221120
Cerebrocostomandibular Syndrome	Short hard palate, Glossoptosis, Death in infancy, Cleft palate	ORPHA:1393
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Motor stereotypy	OMIM:613443
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h...	OMIM:228300
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Carious teeth, Xerostomia, Hypoplasia of the maxilla, Selective tooth agenesis, Cl...	OMIM:604292
Kinsship Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Widely spaced teeth, Ankyloglossia, Dislo...	OMIM:619297
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Abnormal pelvic girdle bone morphology, Postnatal growth retardation, Hemiatrophy, St...	OMIM:302960
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, ...	OMIM:129900
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Sandal gap, Widely spaced teeth, 2-3 toe syndactyly, Postaxial po...	OMIM:614099
Intellectual Developmental Disorder, X-Linked 98	Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereotypical hand wringin...	OMIM:300912
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Micrognathia, Cleft upper lip, Anal atresia, Cleft palate	OMIM:236670
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Aggressive behavior, Motor stereotypy, Impulsivity	OMIM:618914
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Long philtrum, Tented upper lip vermilion, Single transverse palmar crease, Postaxial polydactyly...	OMIM:617527
Houge-Janssens Syndrome 3	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618354
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:98784
Cri-Du-Chat Syndrome	Bifid uvula, Downturned corners of mouth, Thick lower lip vermilion, Orofacial cleft, High palate...	OMIM:123450
Intellectual Developmental Disorder, Autosomal Dominant 34	Bruxism, Motor stereotypy	OMIM:616351
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Long philtrum, Cleft upper lip, Submucous cleft hard palate, Orofacial cleft, Abnorm...	OMIM:607872
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Limitation of joint mobility, Dilatation of the r...	ORPHA:95699
Ogden Syndrome	Decreased testicular size, Cryptorchidism, Cardiomegaly, Global glomerulosclerosis, Hydrocele tes...	OMIM:300855
Wolf-Hirschhorn Syndrome	Downturned corners of mouth, Cleft upper lip, Abnormal lip morphology, Micrognathia, Hypodontia, ...	ORPHA:280
Craniolenticulosutural Dysplasia	Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, Thin upper lip ...	OMIM:607812
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Motor stereotypy	ORPHA:411986
Dentici-Novelli Neurodevelopmental Syndrome	Motor stereotypy	OMIM:619877
Heterotaxy, Visceral, 1, X-Linked	Block vertebrae, Renal agenesis, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Enlarged kidney	OMIM:306955
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney	OMIM:261740
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Motor stereotypy	ORPHA:397612
Coffin-Siris Syndrome 12	Celiac disease, High palate, Velopharyngeal insufficiency, Submucous cleft hard palate	OMIM:619325
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed...	ORPHA:261552
Meckel Syndrome, Type 1	Natal tooth, Cleft upper lip, Intestinal malrotation, Micrognathia, Thin upper lip vermilion, Smo...	OMIM:249000
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Bruxism, Motor stereotypy	OMIM:618004
Vacterl/Vater Association	Anal atresia, Tracheoesophageal fistula, Non-midline cleft of the upper lip, Cleft palate	ORPHA:887
Proteus Syndrome	Long penis, Thymus hyperplasia, Cranial hyperostosis, Joint stiffness, Hyperostosis, Splenomegaly...	ORPHA:744
Au-Kline Syndrome	Bifid uvula, Dental malocclusion, Downturned corners of mouth, Overlapping toe, Open mouth, Oligo...	OMIM:616580
Intellectual Developmental Disorder, Autosomal Dominant 48	Motor stereotypy, Hyperactivity	OMIM:617751
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting	OMIM:618314
Larsen Syndrome	Hypodontia, Cleft upper lip, Malar flattening, Cleft palate	OMIM:150250
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Motor stereotypy, Self-mutilation	ORPHA:457240
Holoprosencephaly 14	Median cleft upper lip, Cleft lip, Cleft palate	OMIM:619895
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Oculopalatocerebral Syndrome	Cleft palate	OMIM:257910
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Cardiomyopathy, Furrowed tongue, Intrauterine grow...	ORPHA:769
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Bifid uvula, Long philtrum, Thin vermilion border	OMIM:241410
Tetraamelia Syndrome 1	Micrognathia, Cleft upper lip, Anal atresia, Cleft palate	OMIM:273395
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Motor stereotypy, Dysphagia	ORPHA:572013
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Mowat-Wilson Syndrome	Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Widely spaced...	OMIM:235730
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased testicular size, Reduced bone mineral d...	ORPHA:90796
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia...	OMIM:617061
Distal Deletion 12Q	High, narrow palate, Microglossia, Long philtrum, Micrognathia, Median cleft upper lip, Smooth ph...	ORPHA:96149
Treacher Collins Syndrome 2	Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening...	OMIM:613717
Aicardi Syndrome	Hiatus hernia, Cleft upper lip, Cleft palate, Prominence of the premaxilla	OMIM:304050
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Pilarowski-Bjornsson Syndrome	Motor stereotypy	OMIM:617682
Stolerman Neurodevelopmental Syndrome	Bifid uvula, Wide mouth, Abnormality of the dentition, Thick vermilion border	OMIM:618505
Restrictive Dermopathy	Microcolon, Natal tooth, Narrow mouth, Submucous cleft hard palate	ORPHA:1662
4Q21 Microdeletion Syndrome	Self-injurious behavior, Motor stereotypy	ORPHA:238750
Intellectual Developmental Disorder, Autosomal Dominant 52	Pica, Motor stereotypy, Obsessive-compulsive trait, Hyperactivity	OMIM:617796
Rubinstein-Taybi Syndrome 1	Broad thumb, Postnatal growth retardation, Hypoplastic iliac wing, Narrow mouth, Talipes equinova...	OMIM:180849
22Q11.2 Duplication Syndrome	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:1727
Developmental And Epileptic Encephalopathy 66	Motor stereotypy	OMIM:618067
Hydroxykynureninuria	Motor stereotypy	ORPHA:79155
Snijders Blok-Campeau Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618205
Mend Syndrome	Aortic valve stenosis, Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe s...	OMIM:300960
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Juvenile Neuronal Ceroid Lipofuscinosis	Motor stereotypy, Dysphagia	ORPHA:79264
Diamond-Blackfan Anemia 1	Retrognathia, Cleft upper lip, Micrognathia, High palate, Cleft palate, Colon cancer	OMIM:105650
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	ORPHA:488618
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Polyhydramnios, Aplasia of the epiglottis, Median cleft upper lip, Hypodon...	OMIM:617088
48,Xxyy Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:10
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Branchiootorenal Syndrome 1	Bifid uvula, Intestinal malrotation, Microdontia, Increased overbite, High palate, Cleft palate	OMIM:113650
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly	ORPHA:314655
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Motor stereotypy, Agitation	ORPHA:927
Late Infantile Neuronal Ceroid Lipofuscinosis	Aggressive behavior, Motor stereotypy, Obsessive-compulsive trait, Hyperactivity	ORPHA:168491
Wolf-Hirschhorn Syndrome	Craniofacial asymmetry, Malrotation of small bowel, Downturned corners of mouth, Cleft upper lip,...	OMIM:194190
Adnp Syndrome	Broad thumb, Sandal gap, Broad hallux, Thick lower lip vermilion, Umbilical hernia, Single transv...	ORPHA:404448
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Dental crowding, Thick lower lip vermilion, Smooth philtrum, Sh...	OMIM:309583
Trisomy 18	Microretrognathia, Narrow mouth, Anal atresia, Esophageal atresia, Narrow palate, Non-midline cle...	ORPHA:3380
Sweeney-Cox Syndrome	Velopharyngeal insufficiency, Narrow mouth, Median cleft palate, Short philtrum, Anal atresia, Hi...	OMIM:617746
Marshall Syndrome	Bifid uvula, Macrodontia of permanent maxillary central incisor, Long philtrum, Thick lower lip v...	OMIM:154780
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Acromesomelia, Toe syndactyly, Intrauterine growth r...	ORPHA:464306
Holt-Oram Syndrome	Cleft soft palate, Long philtrum	OMIM:142900
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Motor stereotypy, Compulsive behaviors	OMIM:613174
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Bruxism, Repetitive compulsive behavior, Motor stereotypy, Dysphagia	OMIM:300260
Hyperphosphatasia-Intellectual Disability Syndrome	Bifid uvula, Downturned corners of mouth, Anteriorly placed anus, Tented upper lip vermilion, Aga...	ORPHA:247262
Hereditary Angioedema Type 1	Abnormal soft palate morphology, Abnormal uvula morphology, Intestinal edema	ORPHA:100050
Blepharophimosis-Impaired Intellectual Development Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Overfriendliness	OMIM:619293
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:352665
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder	ORPHA:64280
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Motor stereotypy, Hyperactivity, Self-mutilation	OMIM:300486
Radio-Tartaglia Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Motor stereotypy, Impul...	OMIM:619312
Fraser-Like Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst	OMIM:229230
Ritscher-Schinzel Syndrome 4	Aggressive behavior, Motor stereotypy, Dysphagia, Impulsivity	OMIM:619435
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Fibular hypoplasi...	OMIM:617925
Monosomy 9Q22.3	Palmar pits, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, Polydactyl...	ORPHA:77301
Intellectual Developmental Disorder, Autosomal Dominant 38	Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy	OMIM:616393
Carpenter Syndrome 2	Carious teeth, Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, High palate, High, ...	OMIM:614976
Simpson-Golabi-Behmel Syndrome, Type 1	Duplication of renal pelvis, Supernumerary nipple, Cryptorchidism, Nephroblastoma, Right ventricu...	OMIM:312870
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Mandibular prognathia, Cleft upper lip, Macroglossia, Wide mouth, Cleft palate	ORPHA:373
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Motor stereotypy	OMIM:617807
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Motor stereotypy, Dysphagia	OMIM:617802
Peters-Plus Syndrome	Hypoplasia of the maxilla, Cleft upper lip, Widely spaced teeth, Long philtrum, Anteriorly placed...	OMIM:261540
Nijmegen Breakage Syndrome	Anal stenosis, Retrognathia, Deep philtrum, Anal atresia, Non-midline cleft of the upper lip, Cle...	ORPHA:647
Meckel Syndrome 12	Bifid uvula	OMIM:616258
Rett Syndrome	Bruxism, Motor stereotypy, Agitation, Stereotypical hand wringing	ORPHA:778
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly	OMIM:615989
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Delayed epiphyseal ossification, Elbow dislocation, Hip contracture, Bowing ...	OMIM:210710
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Motor stereotypy	ORPHA:500159
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Motor stereotypy	OMIM:619428
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the zygomatic bone, Narrow mouth, Trach...	ORPHA:138
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Cleft upper lip, Stillbirth	OMIM:308050
Spondyloepiphyseal Dysplasia Congenita	Bifid uvula, Cleft palate, Pierre-Robin sequence	OMIM:183900
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Motor stereotypy, Overfriendliness	OMIM:616579
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Postnatal growth retardation, Hig...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Postnatal growth retardation, Hig...	ORPHA:353277
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Radial bowing, Broad thumb, Polydactyly affecting the 4th finger, Ov...	ORPHA:672
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620073
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Occipital encephalocele, Rhizomelic arm shortening, Proximal femoral metap...	ORPHA:397715
Adams-Oliver Syndrome 1	Cleft upper lip, Cleft palate	OMIM:100300
Focal Dermal Hypoplasia	Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Anteriorly placed anus, Intestin...	OMIM:305600
Rauch-Steindl Syndrome	Aggressive behavior, Motor stereotypy, Hyperactivity	OMIM:619695
Peters Plus Syndrome	Cleft upper lip, Long philtrum, Widely spaced teeth, Intestinal fistula, Micrognathia, Exaggerate...	ORPHA:709
Neuhauser Syndrome	Bifid uvula, High palate, Long philtrum	OMIM:249310
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bifid uvula, High palate	OMIM:300472
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Tooth malposition, Small hand, Overlapping toe, High palate, Anal atresia, Short foot, Slender fi...	ORPHA:480880
Branchiooculofacial Syndrome	Abnormality of the dentition, Cleft upper lip, Micrognathia, Branchial anomaly, Lower lip pit, Ma...	OMIM:113620
Neu-Laxova Syndrome 1	Cleft upper lip, Thick lower lip vermilion, Neonatal death, Stillbirth, Cleft palate, Swollen lip	OMIM:256520
Alobar Holoprosencephaly	Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, High palate, Clef...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, High palate, Clef...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, High palate, Clef...	ORPHA:93924
Semilobar Holoprosencephaly	Bifid uvula, Median cleft upper lip, Solitary median maxillary central incisor, High palate, Clef...	ORPHA:220386
Robinow Syndrome, Autosomal Dominant 1	Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil...	OMIM:180700
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Mitral regurgitation	OMIM:603387
Apert Syndrome	Bifid uvula, Delayed eruption of teeth, Ectopic anus, Esophageal atresia, Narrow palate, Cleft pa...	ORPHA:87
Stromme Syndrome	Preaxial polydactyly, Intestinal malrotation, Jejunal atresia, Wide mouth, Duodenal atresia, Clef...	OMIM:243605
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavi...	ORPHA:476126
Degcags Syndrome	Toe syndactyly, Genu valgum, Protruding tongue, Talipes equinovarus, Tachycardia, Hemihypotrophy ...	OMIM:619488
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Postaxial polydactyly	OMIM:219730
Chand Syndrome	Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla...	ORPHA:1401
ERI1-related disease	High palate, Velopharyngeal insufficiency	OMIM:608739
Okamoto Syndrome	Aortic valve stenosis, Anal stenosis, Exaggerated median tongue furrow, Downturned corners of mou...	ORPHA:2729
White-Sutton Syndrome	Self-injurious behavior, Overfriendliness, Aggressive behavior, Hyperactivity, Tics, Motor stereo...	OMIM:616364
Cystinosis	Polydipsia, Motor stereotypy	ORPHA:213
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Delayed eruption of primary teeth, Abs...	OMIM:149730
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate	ORPHA:1969
Aromatase Deficiency	Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst	OMIM:613546
Fraser Syndrome	Anal stenosis, Dental crowding, Dental malocclusion, Cleft upper lip, Orofacial cleft, Anal atres...	ORPHA:2052
Craniofacial Microsomia 1	Hypoplasia of the maxilla, Cleft upper lip, Micrognathia, Branchial anomaly, Malar flattening, Ma...	OMIM:164210
Barber-Say Syndrome	Dental malocclusion, Velopharyngeal insufficiency, Delayed eruption of teeth, Widely spaced teeth...	OMIM:209885
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsiv...	OMIM:620494
2Q37 Microdeletion Syndrome	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:1001
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Median cleft upper lip, Orofacial cleft	ORPHA:3186
Cerebral Creatine Deficiency Syndrome 1	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:300352
Aprosencephaly And Cerebellar Dysgenesis	Bifid uvula	OMIM:601374
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Mesoaxial hand polydactyly, Aganglionic megacolon, Syndactyly, Postax...	OMIM:236700
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Natal tooth, Anteriorly placed anus, Gingival overgrowth, Narrow mouth, High palate,...	OMIM:123790
Chromosome 15Q11.2 Deletion Syndrome	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:615656
Khan-Khan-Katsanis Syndrome	Clinodactyly, Tricuspid regurgitation, Intrauterine growth retardation, Tented upper lip vermilio...	OMIM:618460
Foxg1 Syndrome Due To 14Q12 Microdeletion	Motor stereotypy	ORPHA:261144
Rett Syndrome, Congenital Variant	Bruxism, Tongue thrusting, Motor stereotypy	OMIM:613454
Prader-Willi Syndrome Due To Translocation	Bifid uvula, Carious teeth, Downturned corners of mouth, Triangular-shaped open mouth, Alveolar r...	ORPHA:177907
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypertrophic cardiomyopathy, Short humerus, Polydactyly, Orofacial cleft, Growth delay, Short femur	ORPHA:17
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Downturned corners of mouth, Furrowed tongue, Open mouth, Oligodontia, Macroglossia,...	ORPHA:453499
Kleefstra Syndrome 1	Compulsive behaviors, Aggressive behavior, Motor stereotypy	OMIM:610253
Legius Syndrome	Polydactyly, Paroxysmal atrial tachycardia, Short stature, Clinodactyly of the 5th finger, Pulmon...	ORPHA:137605
Joubert Syndrome 6	Motor stereotypy	OMIM:610688
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation	ORPHA:99819
Vater/Vacterl Association	Occipital encephalocele, Short thumb, Preaxial polydactyly, Postnatal growth retardation, Intraut...	OMIM:192350
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Cleft palate, Pierre-Robin sequence	OMIM:614921
Loeys-Dietz Syndrome 4	High, narrow palate, Bifid uvula, Broad uvula, Eosinophilic infiltration of the esophagus, High p...	OMIM:614816
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Inappropriate laughter, Motor stereotypy	OMIM:615802
Elsahy-Waters Syndrome	Bifid uvula, Anal stenosis, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick ...	OMIM:211380
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Motor stereotypy, Self-mutilation, Stereotypical hand wringing	OMIM:212066
Proximal 16P11.2 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:261197
Neurocardiofaciodigital Syndrome	Polydactyly, Short stature, High palate, Thin vermilion border, Syndactyly	OMIM:619869
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Self-injurious behavior, Head-banging, Frequent temper tantrums, Attention deficit hyperactivity ...	OMIM:619575
White-Sutton Syndrome	Self-injurious behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy	ORPHA:468678
Alstrom Syndrome	Abnormality of the dentition, Dilated cardiomyopathy, Congestive heart failure, Gingivitis, Polyd...	OMIM:203800
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Occipital encephalocele, Anteriorly placed anus, Preaxial polydactyly, Ha...	OMIM:615948
Microphthalmia, Syndromic 6	Bifid uvula, Toe syndactyly, Microglossia, Finger syndactyly, Thumb contracture, Single transvers...	OMIM:607932
Phelan-Mcdermid Syndrome	Bruxism, Tongue thrusting, Motor stereotypy, Aggressive behavior	OMIM:606232
Hydrolethalus Syndrome 1	Median cleft upper lip, Cleft palate, Stillbirth	OMIM:236680
Faciocardiomelic Syndrome	Dental malocclusion, Slender long bone, Long philtrum, Hypoplastic pelvis, Polydactyly, Wide mouth	OMIM:612731
Arterial Tortuosity Syndrome	Hiatus hernia, Bifid uvula, High palate, Long philtrum	OMIM:208050
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	High palate, Velopharyngeal insufficiency	OMIM:620663
Joubert Syndrome 39	Postaxial polydactyly, Occipital encephalocele, Joint contracture of the 5th finger	OMIM:619562
Frontometaphyseal Dysplasia 2	Bifid uvula, Deep philtrum, High palate, Short philtrum, Pierre-Robin sequence, Ulcerative coliti...	OMIM:617137
Choanal Atresia	Polydactyly	ORPHA:137914
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension, Median cleft palate, Pituitary dwarfism, Polydactyly, Abnormal digit morphology, Del...	ORPHA:95494
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly	OMIM:619471
Den Hoed-De Boer-Voisin Syndrome	Motor stereotypy, Dysphagia, Agitation, Stereotypical hand wringing	OMIM:619229
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Motor stereotypy, Dysphagia, Hyperactivity, Hair-pulling	ORPHA:447997
Kleefstra Syndrome	Self-injurious behavior, Aggressive behavior, Motor stereotypy, Self-mutilation	ORPHA:261494
Acrofacial Dysostosis, Cincinnati Type	Hypoplasia of the maxilla, Cleft lip, Retrognathia, Median pseudocleft lip, Micrognathia, Aplasti...	OMIM:616462
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Motor stereotypy	ORPHA:457351
Microphthalmia, Syndromic 1	High, narrow palate, Tooth malposition, Dental crowding, Cleft upper lip, Aganglionic megacolon, ...	OMIM:309800
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Inflammation of the large intestine, Dental crowding, F...	ORPHA:110
Bainbridge-Ropers Syndrome	Self-injurious behavior, Motor stereotypy, Recurrent hand flapping	OMIM:615485
Megalocornea-Intellectual Disability Syndrome	Motor stereotypy	ORPHA:2479
Charge Syndrome	Anal stenosis, Cleft upper lip, Micrognathia, Malar flattening, Tracheoesophageal fistula, Esopha...	OMIM:214800
Loeys-Dietz Syndrome 2	Bifid uvula, Joint contracture of the hand, Umbilical hernia, Protrusio acetabuli, Absent distal ...	OMIM:610168
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Bidirectional shunt, Generalized edema, Broad thumb, Edema, Tricuspid regur...	OMIM:619534
Developmental And Epileptic Encephalopathy 2	Motor stereotypy	OMIM:300672
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Attention deficit hyperactivity disorder, Motor stereotypy, Self-mutilation	OMIM:619005
Roberts-Sc Phocomelia Syndrome	Hyperplasia of the maxilla, Cleft upper lip, Micrognathia, Malar flattening, High palate, Cleft p...	OMIM:268300
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Horseshoe kidney, Abnormality of the ovary, Reduced bone mineral density, Renal hypop...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Horseshoe kidney, Abnormality of the ovary, Reduced bone mineral density, Renal hypop...	ORPHA:99228
Monosomy X	Osteopenia, Horseshoe kidney, Abnormality of the ovary, Reduced bone mineral density, Renal hypop...	ORPHA:99226
Turner Syndrome	Osteopenia, Horseshoe kidney, Abnormality of the ovary, Reduced bone mineral density, Renal hypop...	ORPHA:881
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Self-mutilation, Repetitive compulsive behavior, Motor stereotypy, Self-biting	ORPHA:522077
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Motor stereotypy, Dysphagia	ORPHA:496641
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Motor stereotypy	ORPHA:300570
7Q11.23 Microduplication Syndrome	Self-injurious behavior, Aggressive behavior, Polyphagia, Hyperactivity, Collectionism, Motor ste...	ORPHA:96121
Wiedemann-Steiner Syndrome	Aggressive behavior, Motor stereotypy, Dysphagia, Hyperactivity	ORPHA:319182
Niemann-Pick Disease, Type C2	Motor stereotypy, Dysphagia	OMIM:607625
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Open mouth, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th finger	ORPHA:457284
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Self-injurious behavior, Frequent temper tantrums, Hyperactivity, Compulsive behaviors, Motor ste...	OMIM:619512
Ring Chromosome 7 Syndrome	Bifid uvula, Narrow mouth, Median cleft palate, Thin vermilion border, Short philtrum, Cleft palate	ORPHA:1449
Van Esch-O'Driscoll Syndrome	Bifid uvula, Downturned corners of mouth, Tracheoesophageal fistula, Esophageal atresia, Wide mouth	OMIM:301030
Traboulsi Syndrome	Bifid uvula, High palate, Dental malocclusion	OMIM:601552
Pitt-Hopkins Syndrome	Self-injurious behavior, Motor stereotypy	OMIM:610954
Loeys-Dietz Syndrome 1	Bifid uvula, Arachnodactyly, Eosinophilic infiltration of the esophagus, Talipes equinovarus, Pos...	OMIM:609192
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Restrictive behavior, Violent behavior, Bruxism, Aggressive behavior, Impulsivity, Repetitive com...	OMIM:619475
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Narrow mouth, Exaggerated cupid's bow, Thick vermilion border	OMIM:619480
Meester-Loeys Syndrome	Bifid uvula, High palate, Gingival overgrowth	OMIM:300989
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Oppositional defiant disorder, Aggressive behavior, Hyperactivity, Moto...	ORPHA:580
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Motor stereotypy	OMIM:301040
Loeys-Dietz Syndrome	Bifid uvula, High palate, Orofacial cleft	ORPHA:60030
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Motor stereotypy	ORPHA:508533
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Fixated interests, Hair-pulling, Polyphagia, Attention deficit hyperacti...	OMIM:620330
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:464311
Developmental And Epileptic Encephalopathy 100	Motor stereotypy, Dysphagia	OMIM:619777
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Abnormal dental enamel morp...	ORPHA:2363
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Aggressive behavior, Motor stereotypy	OMIM:301066
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Motor stereotypy	ORPHA:468631
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormal fear-induced behavior, Aggressive behavior, Hyperactivity, Comp...	ORPHA:353281
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Motor stereotypy	OMIM:618653
Aneurysm-Osteoarthritis Syndrome	Bifid uvula, High palate, Dental malocclusion, Cleft palate	ORPHA:284984
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	ORPHA:534
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Stereotypical body rocking, Repetitive compulsive behavior, Motor stereotypy	ORPHA:513456
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Motor stereotypy	ORPHA:508498
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:614756
Hypotonia, Ataxia, And Delayed Development Syndrome	Motor stereotypy, Dysphagia	OMIM:617330
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Motor stereotypy, Hyperactivity	OMIM:309590
Arboleda-Tham Syndrome	Motor stereotypy, Dysphagia	OMIM:616268
1P36 Deletion Syndrome	Self-injurious behavior, Polyphagia, Motor stereotypy, Dysphagia	ORPHA:1606
Nmda Receptor Encephalitis	Motor stereotypy, Agitation, Hypersexuality	ORPHA:217253
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Motor stereotypy	OMIM:301044
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Motor stereotypy	OMIM:616682
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Motor stereotypy	OMIM:612474
Lowe Oculocerebrorenal Syndrome	Aggressive behavior, Motor stereotypy	OMIM:309000
Primrose Syndrome	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Tics, Res...	OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia	OMIM:619522
Norrie Disease	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:649
Deafness, Autosomal Recessive 109		OMIM:618013

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 Esrp1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Esrp1.

No publications found that use IMPC mice or data for Esrp1.

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MGI Allele	Allele Type	Produced
Esrp1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Esrp1^{tm169(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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Gene: Esrp1 MGI:1917326

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

Gross Morphology Embryo E9.5

Human diseases caused by Esrp1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 21.1 Data