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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
small kidney	Esrp1^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Esrp1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Esrp1^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic growth retardation	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
decreased bone mineral density	Esrp1^em1(IMPC)Mbp	HET	Early adult	2.05×10^-05
facial cleft	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
polydactyly	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
cleft palate	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
edema	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal kidney morphology	Esrp1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal craniofacial morphology	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
hemorrhage	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal ovary morphology	Esrp1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal limb morphology	Esrp1^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Esrp1^em1(IMPC)Mbp	HET	E15.5	0.00
edema	Esrp1^em1(IMPC)Mbp	HET	E15.5	0.00
decreased bone mineral content	Esrp1^em1(IMPC)Mbp	HET	Early adult	8.67×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

120 Images

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Gross Morphology Embryo E14.5-E15.5

Images

26 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 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 (1088 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	Hyperactivity, Attention deficit hyperactivity disorder	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, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, 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
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
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	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Autism, Susceptibility To, X-Linked 4	Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior	OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder	OMIM:613003
Uvula, Bifid	Bifid uvula	OMIM:192100
Telecanthus	Anodontia, Bilateral cleft lip and palate	OMIM:187350
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors	OMIM:618830
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums	ORPHA:401942
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Lipedema	Edema	OMIM:614103
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology	ORPHA:2291
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Holzgreve Syndrome	Cleft palate, Cleft upper lip	OMIM:236110
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Disorganization, Mouse, Homolog Of	Cleft palate, Cleft upper lip	OMIM:223200
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
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
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Omphalocele-Cleft Palate Syndrome, Lethal	Death in infancy, Bifid uvula, Cleft palate	OMIM:258320
Acrofacial Dysostosis, Weyers Type	Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Facial cleft...	ORPHA:952
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619363
Facial Clefting, Oblique, 1	Cleft palate, Cleft upper lip	OMIM:600251
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi...	OMIM:618779
Megaepiphyseal Dwarfism	Cleft palate	OMIM:249230
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:261800
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency	OMIM:617732
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Birk-Barel Syndrome	Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula	OMIM:612292
Thomas Syndrome	Cleft palate, Cleft upper lip	ORPHA:3316
2q33.1 deletion syndrome	High palate, Cleft palate	DECIPHER:51
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Short stature, Camptodactyly of finger, Abnormality of the denti...	ORPHA:1794
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Anencephaly 2	Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
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
Kaposi Sarcoma, Susceptibility To	Edema	OMIM:148000
X-Linked Intellectual Disability, Siderius Type	Orofacial cleft, Cleft upper lip	ORPHA:85287
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Non-midline cleft lip	ORPHA:2007
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:1484
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Facial cleft, Anterior...	OMIM:601357
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms	OMIM:606053
Sprengel Deformity	Cleft palate	ORPHA:3181
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Cleft palate	ORPHA:85273
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Smooth philtrum	OMIM:614526
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Pierre Robin Sequence With Facial And Digital Anomalies	Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca...	OMIM:311895
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Anophthalmia Plus Syndrome	Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft lip and palate, ...	ORPHA:1104
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Parietal Foramina 1	Cleft palate, Cleft upper lip	OMIM:168500
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Parc Syndrome	Cleft palate	OMIM:600331
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Facial cleft, Small thenar eminence, Short 5th...	OMIM:239800
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Short stature, Abnormality of the dentition, Carious teeth, Sma...	ORPHA:1786
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Diprosopus	Non-midline cleft lip, Cleft palate	ORPHA:1681
Fryns Microphthalmia Syndrome	Neural tube defect, Facial cleft, Bilateral cleft lip and palate	OMIM:600776
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Cleft upper lip, High, narrow palate, Facial cleft, Cleft p...	OMIM:607597
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate	OMIM:620183
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid uvula	OMIM:256200
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m...	OMIM:620107
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Mmep Syndrome	Median cleft lip, Orofacial cleft	ORPHA:3434
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Facial cleft, High palate, Widely spaced teeth, Solitary median maxil...	ORPHA:66625
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608636
Weaver-Williams Syndrome	Cleft palate, Narrow mouth	ORPHA:3448
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Split hand/foot malformation 1 (SHFM1)	Median cleft lip, Cleft palate	DECIPHER:46
Santos Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu...	OMIM:613005
Intellectual Developmental Disorder, X-Linked 90	High palate, Bifid uvula	OMIM:300850
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala...	OMIM:612961
Mucopolysaccharidosis, Type Ix	Submucous cleft hard palate, Bifid uvula	OMIM:601492
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Intellectual Developmental Disorder, Autosomal Recessive 44	Thin vermilion border, Bifid uvula, Long philtrum	OMIM:615942
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, High palate, Bifid uvula	OMIM:155145
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Short stature, Shoulder flexion contracture, Rocker bottom foot, Ca...	OMIM:619110
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula	OMIM:619239
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Adducted Thumbs Syndrome	High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate	OMIM:201550
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Bifid uvula	ORPHA:2669
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta...	OMIM:616331
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Spastic Paraplegia 81, Autosomal Recessive	Bifid uvula, Cleft palate	OMIM:618768
Robinow Syndrome, Autosomal Recessive 2	Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m...	OMIM:618529
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate	ORPHA:99742
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia	ORPHA:3201
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft	OMIM:141400
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate	ORPHA:166016
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Genitopalatocardiac Syndrome	Micrognathia, Cleft palate, Cleft upper lip	OMIM:231060
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft lip, Ectopic anus, Cleft palate	ORPHA:2476
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Cleft palate, Hypodontia, Microdontia, Malar flatte...	OMIM:225060
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Cleft palate, Micrognathia	ORPHA:2015
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Chromosome 22Q11.2 Duplication Syndrome	Velopharyngeal insufficiency, High palate	OMIM:608363
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Mesomelic Limb Shortening And Bowing	Retrognathia, Cleft palate, Micrognathia	OMIM:249710
Hydrolethalus	Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Bifid uvula	ORPHA:2189
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Orofaciodigital Syndrome Viii	Median cleft lip, High palate, Cleft palate	OMIM:300484
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity	ORPHA:436151
Cree Mental Retardation Syndrome	Cleft soft palate	OMIM:606851
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Bifid uvula, Cleft palate	ORPHA:506353
Charlie M Syndrome	Non-midline cleft lip, Tooth agenesis, Thin vermilion border, Short philtrum, Narrow mouth	ORPHA:1406
3Mc Syndrome 3	Short stature, Cleft upper lip, Preaxial polydactyly, Facial cleft, Cleft palate, Growth delay, R...	OMIM:248340
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss...	ORPHA:3104
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip	OMIM:619122
Keratoconus Posticus Circumscriptus	Cleft palate, Cleft upper lip	OMIM:244600
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Polydactyly, Postaxial, Type A8	Short stature, Postaxial polydactyly, Genu valgum	OMIM:618123
Weyers Ulnar Ray/Oligodactyly Syndrome	Micrognathia, Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incisor	OMIM:602418
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Edema, Cleft palate, Talipes equinovarus, Intrauterine growth retardation	OMIM:616570
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Intellectual Disability, Wolff Type	Microretrognathia, Non-midline cleft lip, Thick lower lip vermilion, Orofacial cleft, Abnormal in...	ORPHA:3080
Frontonasal Dysplasia 3	Facial cleft, Cleft palate	OMIM:613456
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li...	ORPHA:1071
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion	OMIM:616898
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ...	ORPHA:2712
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Facial cleft, Cleft palate, Hand polydactyly, Talipes...	OMIM:217100
Split-Foot Deformity With Mandibulofacial Dysostosis	Malar flattening, Cleft palate, Micrognathia	OMIM:183700
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft palate, Cleft upper lip	OMIM:214300
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip	OMIM:616994
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Intestinal malrotatio...	ORPHA:99776
Schilbach-Rott Syndrome	Submucous cleft hard palate, Bifid uvula, Narrow mouth	OMIM:164220
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Temporomandibular joint ankylosis, Cleft palate, Micrognathia	ORPHA:141152
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Orofaciodigital Syndrome Type 10	Cleft soft palate, Accessory oral frenulum, Long philtrum	ORPHA:2756
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Dental crowding, High, narrow palate, Velopharyngeal insufficiency, Dow...	OMIM:619941
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Gordon Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Cleft palate, High palate, Clinodactyl...	ORPHA:376
Zechi-Ceide Syndrome	Malar flattening, Oligodontia, Cleft palate, Cleft upper lip	OMIM:612916
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Short philtrum, Cleft soft palate, Smooth philtrum	ORPHA:293725
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly	OMIM:615984
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Cleft palate	OMIM:612370
Buratti-Harel Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula	OMIM:619314
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v...	OMIM:618106
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Cleft palate	ORPHA:250999
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Branchiogenic-Deafness Syndrome	Submucous cleft hard palate	OMIM:609166
Meckel Syndrome, Type 8	Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Edema, Familial Idiopathic, Prepubertal	Edema	OMIM:129840
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp...	OMIM:618761
Nemaline Myopathy 9	High palate, Cleft palate, Micrognathia	OMIM:615731
W Syndrome	Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit	ORPHA:2804
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongu...	OMIM:258860
Pai Syndrome	Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology	ORPHA:1993
Burn-Mckeown Syndrome	Mandibular prognathia, Cleft upper lip, Micrognathia, Cleft palate, Thin vermilion border, Short ...	OMIM:608572
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate	ORPHA:93316
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus...	OMIM:615582
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Short stature, Abnormal hand morphology, Small hand, Cleft palate, Short foot	OMIM:300261
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Unilateral Ocular Duplication	Encephalocele, Median cleft lip, Polyhydramnios, Midline facial cleft, Cleft palate	ORPHA:3374
Short Stature And Facioauriculothoracic Malformations	High palate, Cleft palate, Cleft upper lip	OMIM:609654
Focal Facial Dermal Dysplasia Type Iv	Cleft palate, Cleft upper lip	ORPHA:398189
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper...	OMIM:608670
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism	OMIM:619150
Arthrogryposis, Distal, Type 3	Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate	OMIM:114300
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormality of the dentition, Hypoplasia of the maxil...	ORPHA:915
Intellectual Developmental Disorder, Autosomal Recessive 13	Downturned corners of mouth, Short philtrum, Smooth philtrum, Cleft upper lip	OMIM:613192
Supernumerary Nostril	Facial cleft	ORPHA:141096
16P11.2P12.2 Microduplication Syndrome	Cleft palate	ORPHA:261204
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h...	OMIM:614701
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Macular Dystrophy, Dominant Cystoid	Cystoid macular edema, Edema	OMIM:153880
Frontofacionasal Dysplasia	Encephalocele, Short stature, Non-midline cleft lip, Facial cleft, Cleft palate	ORPHA:1791
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619470
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Micrognathia, Deep philtrum, Orofacial cleft, Incomplete cleft of the upp...	ORPHA:77300
Phenobarbital Embryopathy	Mandibular prognathia, Malar flattening, Unilateral cleft lip	ORPHA:1919
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilateral cleft lip, Unilate...	OMIM:619103
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia	OMIM:617862
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ...	OMIM:117650
N-Acetylaspartate Deficiency	Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Hydrops fetalis, Fused teeth, High palate, Microdontia, Synda...	OMIM:614091
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Bifid uvula, Cleft palate, Cleft upper lip	OMIM:300958
Native American Myopathy	Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula	ORPHA:168572
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha...	ORPHA:2751
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly, Oligohydramnios	OMIM:615397
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening	ORPHA:166100
Autosomal Recessive Amelia	Non-midline cleft lip, Orofacial cleft	ORPHA:1027
8Q22.1 Microdeletion Syndrome	Long philtrum, Submucous cleft hard palate, Abnormality of the dentition	ORPHA:178303
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Cleft palate, Cleft upper lip	OMIM:601076
Meckel Syndrome, Type 5	Cleft palate, Cleft upper lip	OMIM:611561
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Satb2-Associated Syndrome Due To A Pathogenic Variant	Thin upper lip vermilion, Abnormality of the dentition, Celiac disease, Cleft palate, High palate...	ORPHA:576283
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms	OMIM:617830
Bamforth-Lazarus Syndrome	Cleft palate	OMIM:241850
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Joint hyperflexibility, Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Diamond-Blackfan Anemia 6	Micrognathia, Cleft upper lip, Cleft palate, Retrognathia, Bifid uvula	OMIM:612561
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth	OMIM:183300
Lethal Osteosclerotic Bone Dysplasia	Micrognathia, Gingival fibromatosis, Gingival overgrowth, Mandibular aplasia, Retrognathia, Media...	ORPHA:1832
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl...	OMIM:614669
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate, Anteriorly placed anu...	OMIM:612863
Hartsfield Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:2117
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior	OMIM:605899
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Cleft palate, Micrognathia	ORPHA:1779
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior	OMIM:301107
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Cleft upper lip, Midline facial cleft, Preaxial polydactyly, Preaxial ...	OMIM:603671
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Idiopathic Hypercalciuria	Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat...	ORPHA:2197
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease...	ORPHA:730
Hyperlysinemia, Type I	Hyperactivity	OMIM:238700
Familial Hyperprolactinemia	Osteopenia, Hemorrhagic ovarian cyst, Osteoporosis, Female hypogonadism	ORPHA:397685
Orofaciodigital Syndrome Xvii	Median cleft lip, Short stature, Short middle phalanx of the 2nd finger, High, narrow palate, Par...	OMIM:617926
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft palate, Cleft upper lip	OMIM:244200
Kleefstra Syndrome 2	Everted lower lip vermilion, Bifid uvula	OMIM:617768
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Lip pit, Tapered finger, Facial cleft, Hypodontia, Broad thumb, Abnormal...	ORPHA:1236
Limb-Mammary Syndrome	Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula	ORPHA:69085
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th...	ORPHA:2631
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Distal Deletion 10P	Micrognathia, Non-midline cleft lip, Cleft palate, Ectopic anus, Anal atresia	ORPHA:1580
Marbach-Schaaf Neurodevelopmental Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate	OMIM:619680
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Submucous cleft soft palate, Cleft soft palate	ORPHA:2282
Stickler Syndrome, Type I	Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence	OMIM:108300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ...	OMIM:263200
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly	OMIM:615982
Mycophenolate Mofetil Embryopathy	Facial cleft, Tracheoesophageal fistula, Orofacial cleft, Hydrops fetalis, Foot polydactyly, Shor...	ORPHA:268249
Treacher Collins Syndrome 1	Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth	OMIM:154500
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome	Torus palatinus	ORPHA:2536
Blepharonasofacial Malformation Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate, Long philtrum	ORPHA:1252
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft palate, Bifid ...	ORPHA:2780
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth	OMIM:246560
Stickler Syndrome, Type Ii	High, narrow palate, Pierre-Robin sequence, Bifid uvula, Cleft palate	OMIM:604841
Chromosome 22Q11.2 Deletion Syndrome, Distal	Smooth philtrum, Thin upper lip vermilion, Malar flattening, Cleft palate	OMIM:611867
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior	OMIM:248510
Orofaciodigital Syndrome Xi	Cleft palate, Postaxial polydactyly	OMIM:612913
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Cleft palate, Downturned corners of mouth, Ectopic anus, Short philtrum, M...	ORPHA:94066
Distal Monosomy 7Q36	Wide mouth, Non-midline cleft lip, Cleft palate, Micrognathia	ORPHA:1636
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst...	OMIM:618718
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary...	OMIM:136760
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Anal stenosis, Absent thumb, Absent radius, S...	OMIM:263650
Juberg-Hayward Syndrome	Anteriorly placed anus, Cleft upper lip	OMIM:216100
Dystonia-Deafness Syndrome 1	Cleft palate, Cleft upper lip	OMIM:607371
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Short stature, Postnatal growth retardation, Upper limb asymmetry, High palate, ...	ORPHA:231140
Zimmermann-Laband Syndrome 3	Thick lower lip vermilion, High palate, Bifid uvula, Gingival overgrowth	OMIM:618658
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ...	OMIM:619950
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man...	OMIM:600795
Schisis Association	Anal atresia, Unilateral cleft lip, Tracheoesophageal fistula, Cleft palate	ORPHA:63862
Microphthalmia, Syndromic 12	Neonatal death, Intestinal malrotation, Cleft palate	OMIM:615524
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft p...	OMIM:614815
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia	OMIM:618021
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Everted lower lip vermilion	OMIM:242500
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Double Outlet Right Ventricle	Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth	ORPHA:3426
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Bifid uvula	OMIM:617660
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Orofaciodigital Syndrome Ix	Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palate	OMIM:258865
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Holoprosencephaly 4	Median cleft lip, Median cleft lip and palate	OMIM:142946
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Bilateral cleft lip,...	OMIM:618622
Maternal Uniparental Disomy Of Chromosome 6	Miscarriage, Cleft palate, Cleft upper lip	ORPHA:96181
Pallister-Hall-Like Syndrome	Death in infancy, Microglossia, Median cleft lip, Cleft palate	OMIM:241800
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Short stature, Abnormality of the humerus, Preaxial hand polydactyly, ...	ORPHA:3098
Rhizomelic Chondrodysplasia Punctata, Type 2	Submucous cleft hard palate, High palate	OMIM:222765
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Nager Syndrome	Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla...	ORPHA:245
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,...	OMIM:617102
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou...	OMIM:300990
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Trisomy 8Q	Micrognathia, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morpho...	ORPHA:1752
Fetal Akinesia Deformation Sequence 2	Tented upper lip vermilion, High palate, Cleft palate, Micrognathia	OMIM:618388
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity	OMIM:300928
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Recurrent fractures, Unilateral renal agenesis, Ovarian cyst, Su...	OMIM:618188
Treacher Collins Syndrome 4	Malar flattening, Cleft palate, Micrognathia	OMIM:618939
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Tooth agenesis, Cleft palate, Cleft upper lip	OMIM:147950
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Postaxial Acrofacial Dysostosis	Malar flattening, Non-midline cleft lip, Cleft palate, Micrognathia	ORPHA:246
Joubert Syndrome 10	Growth delay, Deep philtrum, Thick vermilion border, Postaxial polydactyly	OMIM:300804
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Malar flattening, Pierre-Robin sequence, Cleft palate	OMIM:184840
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617820
Rudiger Syndrome	Ureterovesical stenosis, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis	OMIM:268650
Verloove Vanhorick-Brubakk Syndrome	Non-midline cleft lip, Cleft palate, Micrognathia	ORPHA:3429
Blepharocheilodontic Syndrome 1	Cleft upper lip, Hypodontia, Anal atresia, Conical tooth	OMIM:119580
Auriculocondylar Syndrome 3	Glossoptosis, Bifid uvula	OMIM:615706
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Short stature, Flat c...	OMIM:147891
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Disproportionate...	ORPHA:1856
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Osteoporosis, Nephrolithiasis, Gout...	OMIM:232220
Bamforth-Lazarus Syndrome	Retrognathia, Cleft palate	ORPHA:1226
Hyperparathyroidism 4	Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Nephrolithiasis	OMIM:617343
Myhre Syndrome	Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormal lip morphology, Thin vermilio...	ORPHA:2588
Meier-Gorlin Syndrome 5	Submucous cleft hard palate, Thick vermilion border, Long philtrum	OMIM:613805
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Malar flattening, Cleft palate, Cleft upper lip	OMIM:268850
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short stature, Short thum...	OMIM:600325
Abruzzo-Erickson Syndrome	Cleft palate	OMIM:302905
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glomerulosclerosi...	OMIM:232200
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Deep philtrum, Cleft palat...	OMIM:612530
Fetal Alcohol Syndrome	Thin upper lip vermilion, Micrognathia, Non-midline cleft lip, Cleft palate, Microdontia, Smooth ...	ORPHA:1915
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Holoprosencephaly-Caudal Dysgenesis Syndrome	Median cleft lip, Cleft palate	ORPHA:2165
Microtia, Hearing Impairment, And Cleft Palate	Cleft palate	OMIM:612290
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Tooth agenesis, Non-midline cleft lip, Bilateral cleft lip and palate	ORPHA:2003
Isolated Dandy-Walker Malformation	Cleft palate	ORPHA:217
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Lymphedema, Triangular mouth, Flattened epiphysis, Genu val...	OMIM:607131
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia	OMIM:619227
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ...	ORPHA:861
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Mac...	ORPHA:251004
Oculoauriculovertebral Spectrum With Radial Defects	Non-midline cleft lip, Cleft palate, Orofacial cleft, Wide mouth, Ectopic anus, Short mandibular ...	ORPHA:2549
Acrorenal Syndrome	Cleft palate, Micrognathia	ORPHA:971
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph...	ORPHA:85166
Walker-Warburg Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:899
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Long philtrum	ORPHA:457279
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo...	OMIM:239300
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Lethal Recessive Chondrodysplasia	Micromelia, Polyhydramnios, Edema, Macroglossia, Short long bone, Flared elbow metaphyses, Limb u...	ORPHA:1423
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Capitate-hamate fusion, Short toe, Limited elbow extension, Clef...	OMIM:614078
Naxos Disease	Cleft upper lip	ORPHA:34217
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Postnatal growth retardation, Cleft palate, Short 5th finger, Polydactyly, Ectrodacty...	ORPHA:397590
Limb-Mammary Syndrome	Bifid uvula, Hypodontia, Cleft palate	OMIM:603543
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,...	OMIM:252100
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, O...	OMIM:192430
Rapp-Hodgkin Syndrome	Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, conical teeth...	OMIM:129400
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper...	ORPHA:819
Endosteal Hyperostosis, Worth Type	Torus palatinus	ORPHA:2790
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum	OMIM:619321
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
White Sponge Nevus 2	Edema	OMIM:615785
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Absent uvula	OMIM:616531
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia of the maxilla, Cleft palate...	OMIM:106260
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Cleft lip, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion, Narrow mouth, ...	OMIM:618089
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Acrofrontofacionasal Dysostosis	Non-midline cleft lip, Everted lower lip vermilion, High palate, Cleft palate	ORPHA:1784
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate	OMIM:614557
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Cleft ...	ORPHA:894
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia	OMIM:248390
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Multiple Pterygium Syndrome, X-Linked	Micrognathia, Cleft palate, Cleft upper lip	OMIM:312150
Desmosterolosis	Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bifid uvula	ORPHA:35107
Maxillonasal Dysplasia	Mandibular prognathia, Open bite, Hypoplasia of the maxilla, Cleft palate, Tooth agenesis, Microd...	ORPHA:1248
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Cleft upper lip	OMIM:273400
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Cleft palate, Cleft upper lip	OMIM:600987
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal...	OMIM:174300
Holoprosencephaly 13, X-Linked	Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in...	OMIM:301043
Bardet-Biedl Syndrome 16	Polydactyly, Short stature	OMIM:615993
Morm Syndrome	Hyperactivity, Aggressive behavior	ORPHA:75858
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,...	ORPHA:2795
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Po...	OMIM:607361
Bartsocas-Papas Syndrome	Median cleft lip, Micrognathia, Cleft palate, Narrow mouth	ORPHA:1234
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th...	ORPHA:3253
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Lymphatic Malformation 5	Cleft palate	OMIM:153200
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Facial cleft, Cleft palate, Finger clinodactyly, Pectoral muscle hypopla...	ORPHA:306542
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral...	ORPHA:93307
Myopathy, Centronuclear, 5	High palate, Bifid uvula, Narrow mouth	OMIM:615959
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms	ORPHA:98807
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Coloboma Of Macula And Skeletal Anomalies	Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5...	OMIM:216800
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ...	OMIM:301068
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Acrofacial Dysostosis, Palagonia Type	Micrognathia, High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Malar ...	ORPHA:1787
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:602196
Stickler Syndrome Type 2	Cleft palate	ORPHA:90654
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Short stature...	OMIM:613091
Neu-Laxova Syndrome	Abnormality of the philtrum, Submucous cleft hard palate, Cleft palate, Thick vermilion border, E...	ORPHA:2671
Solitary Median Maxillary Central Incisor	Prominent median palatal raphe, Solitary median maxillary central incisor, Torus palatinus, Cleft...	OMIM:147250
Branchio-Oculo-Facial Syndrome	Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis, High palate, Everted lower...	ORPHA:1297
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive...	OMIM:301029
Pelger-Huet Anomaly	Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd...	OMIM:169400
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287
Culler-Jones Syndrome	Cleft palate, Cleft upper lip	OMIM:615849
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postax...	ORPHA:93271
Orofaciodigital Syndrome Type 4	Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv...	ORPHA:2753
H Syndrome	Abnormality of the kidney, Recurrent fractures, Osteolysis, Hepatosplenomegaly, Azoospermia, Hypo...	ORPHA:168569
Hamel Cerebro-Palato-Cardiac Syndrome	Malar flattening, Micrognathia, Cleft palate, Narrow mouth	ORPHA:93946
Triploidy	Intestinal malrotation, Micrognathia, Non-midline cleft lip, Cleft palate, Wide mouth, Macrogloss...	ORPHA:3376
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Orofaciodigital Syndrome Vi	Tibial bowing, Lobulated tongue, High palate, Short stature, Accessory oral frenulum, Cleft upper...	OMIM:277170
Braddock-Carey Syndrome 2	Wide mouth, Pierre-Robin sequence, Retrognathia, Cleft palate	OMIM:619981
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft lip, Abnormality of the philtrum, Cleft palate	ORPHA:1770
Opitz Gbbb Syndrome	Thin upper lip vermilion, Cleft upper lip, Rectourethral fistula, Cleft palate, High palate, Unil...	OMIM:300000
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Nephrotic syndrome, Focal segmental...	OMIM:617303
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ...	OMIM:311300
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Edema, Short stature, Cleft lip, ...	OMIM:618348
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ...	OMIM:618917
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, High, narrow palate, Wide mouth, Widely spaced teeth, Short philtrum, Narrow mou...	OMIM:300967
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters	OMIM:619817
Diamond-Blackfan Anemia	Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon	ORPHA:124
Branchioskeletogenital Syndrome	Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Submucous cleft hard palate...	ORPHA:1299
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Renal cyst	OMIM:109130
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Severe short stature, Clinodactyly, Hypoplastic pubic ...	OMIM:184250
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Mult...	ORPHA:464329
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, Preaxial foot ...	OMIM:614120
Holoprosencephaly 11	Cleft lip, Cleft palate	OMIM:614226
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Pancreatic cysts, Splenomegaly, Stage 5 c...	OMIM:208540
Say Syndrome	Ulnar deviation of the 3rd finger, Short stature, Tapered finger, Cleft palate, Short distal phal...	OMIM:181180
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Lip pit, Micrognathia, Non-midline cleft lip, Fibrous syngnathia, Cleft...	ORPHA:1300
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib...	OMIM:612286
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ...	OMIM:615761
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard palate, Dental maloc...	OMIM:115150
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Micromelia, Split hand, Oligohydramnios, Cleft palate, Intraute...	ORPHA:2145
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Dental crowding, Micrognathia, Submucous cleft lip, Cleft p...	ORPHA:96170
Aarskog-Scott Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Cleft palate, Curved linear dimple below the lower li...	OMIM:305400
Frontonasal Dysplasia 2	Encephalocele, Tessier number 13 facial cleft, Conical tooth, Widely spaced teeth, Intrauterine g...	OMIM:613451
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, High...	OMIM:618142
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Orofacial cleft, Wide mouth, Long philtrum, Retrognathia	OMIM:243310
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin...	ORPHA:435638
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia	OMIM:616910
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Short stature, Postaxial polydactyly, Tapered finger, ...	OMIM:613792
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Cleft upper lip, High palate, Narrow mouth, Malar fl...	OMIM:612582
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Phenylketonuria	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior...	OMIM:261600
Recombinant 8 Syndrome	Cleft upper lip, Abnormality of the dentition, Micrognathia, Gingival overgrowth, Cleft palate, D...	ORPHA:96167
Lethal Acantholytic Erosive Disorder	Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Impaired myocardial cont...	ORPHA:158687
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Cleft palate, Long philtrum,...	ORPHA:3378
Genitopalatocardiac Syndrome	Downturned corners of mouth, Non-midline cleft lip, Cleft palate, Micrognathia	ORPHA:2075
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, High palate, Cleft palate	ORPHA:1135
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Short stature, Brachydactyly	OMIM:613819
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Polyhydramnios, Postaxial polydactyly, Brachydactyly	OMIM:615633
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Cleft palate, Wide mouth, Smo...	ORPHA:261236
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney	ORPHA:276280
Omodysplasia 2	Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Cleft palate, Long philtrum	OMIM:164745
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Micr...	ORPHA:2059
Biemond Syndrome Type 2	Preaxial polydactyly, Short stature, Delayed puberty	ORPHA:141333
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Proteinuria, Osteoporosis, Stage 5 chronic kidney disease, Gout, Increa...	ORPHA:79259
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Dental crowd...	OMIM:219000
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Malar flattening, Unilateral cleft lip, Abnormal zygomatic bone morphology	ORPHA:2511
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Hyperactivity, Aggressive behavior	ORPHA:382
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Cleft soft palate	ORPHA:268261
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Abnormal repetitive mannerisms	OMIM:617393
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate...	ORPHA:544254
Lopes-Maciel-Rodan Syndrome	Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism	OMIM:617435
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt...	OMIM:619142
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Pyloric stenosis, Cleft palate, High palate, Short philtrum, Narrow mouth, Bifid uvula	ORPHA:96184
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Non-midline cleft lip, Cleft palate, Micrognathia	ORPHA:1908
Dubowitz Syndrome	Delayed eruption of teeth, Carious teeth, Velopharyngeal insufficiency, Submucous cleft hard pala...	OMIM:223370
Suleiman-El-Hattab Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Thick lower lip vermilion, Downturned ...	OMIM:618950
Postaxial Acrofacial Dysostosis	Cleft upper lip, Conical tooth, Midgut malrotation, Pyloric stenosis, Micrognathia, Cleft palate,...	OMIM:263750
Ear-Patella-Short Stature Syndrome	High, narrow palate, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Narrow mo...	ORPHA:2554
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ove...	OMIM:616738
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv...	ORPHA:352490
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in child...	OMIM:612938
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo...	OMIM:225500
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Short metatarsal, Oligodontia, High palate, Short palm, Clinodactyly of the 5th ...	OMIM:170390
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, W...	OMIM:619194
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac...	OMIM:617600
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer...	OMIM:276700
3Mc Syndrome 2	Prominence of the premaxilla, Cleft upper lip, Cleft palate, Downturned corners of mouth, High pa...	OMIM:265050
Atelosteogenesis Type Ii	Micromelia, Polyhydramnios, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the ha...	ORPHA:56304
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cleft palate, Hand polydactyly, Ab...	ORPHA:2167
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Malar flattening	OMIM:201180
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Oligodontia	OMIM:601701
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, Tarsal synostosis, N...	ORPHA:1307
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ...	OMIM:615777
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl...	ORPHA:313781
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing...	OMIM:268305
Lenz-Majewski Hyperostotic Dwarfism	Abnormal dental enamel morphology, High, narrow palate, Submucous cleft hard palate, Cleft palate...	ORPHA:2658
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Cleft palate	OMIM:614838
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g...	OMIM:265300
Baker-Gordon Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Achondrogenesis, Type Ii	Broad long bones, Edema, Short tubular bones of the hand, Polyhydramnios, Disproportionate short-...	OMIM:200610
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Bifid uvula	OMIM:119500
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Oligodontia of primary teeth, Cleft palate	ORPHA:2010
Bohring-Opitz Syndrome	Bilateral cleft palate, Intestinal malrotation, Cleft upper lip, Micrognathia, Narrow palate, Bro...	OMIM:605039
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Histidinemia	Hyperactivity	ORPHA:2157
Foxg1 Syndrome	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism	ORPHA:561854
Zaki Syndrome	Micrognathia, Wide mouth, Median pseudocleft lip, High palate, Short philtrum	OMIM:619648
Schneckenbecken Dysplasia	Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Snail...	OMIM:269250
Auriculocondylar Syndrome	Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala...	ORPHA:137888
Renal Agenesis, Bilateral	Non-midline cleft lip, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate	ORPHA:1848
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Cleft upper lip, Cleft palate, Downturned corner...	OMIM:601808
Laurence-Moon Syndrome	Short stature, Polydactyly, Abnormality of the hand	OMIM:245800
Warty Dyskeratoma	Abnormality of the alveolar ridges, Oral mucosa nodule, Abnormal hard palate morphology, Focal ep...	ORPHA:69745
Nephronophthisis 15	Polydactyly	OMIM:614845
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Short stature, Hamartoma of tongue, Central Y-shaped metacarpa...	ORPHA:2754
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Cardiofaciocutaneous Syndrome	Submucous cleft hard palate, High palate, Long philtrum	ORPHA:1340
Isotretinoin Syndrome	Cleft palate, Micrognathia	ORPHA:2305
Distal Deletion 17Q	Aplasia/Hypoplasia of the uvula, Abnormality of the philtrum, Narrow mouth	ORPHA:1597
Osteopetrosis, Autosomal Dominant 1	Torus palatinus	OMIM:607634
Temple Syndrome	Bifid uvula, High palate, Short philtrum, Cleft palate	OMIM:616222
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s...	ORPHA:404440
Isotretinoin Embryopathy-Like Syndrome	Cleft palate	OMIM:243440
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu...	OMIM:311200
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Cerebrofaciothoracic Dysplasia	Wide mouth, Cleft palate, Broad philtrum, Cleft upper lip	ORPHA:1394
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Deep phi...	OMIM:619503
Dubowitz Syndrome	Delayed eruption of teeth, Anal stenosis, Abnormality of the dentition, Malabsorption, Rectal pro...	ORPHA:235
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Anal stenosis, Paranasal sinus hypoplasia, Dental crowding, Intestinal malrotation, ...	OMIM:300373
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Abnormal r...	OMIM:618342
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Bicornuate uterus, Hypoplasia of th...	ORPHA:79328
Tolchin-Le Caignec Syndrome	Submucous cleft hard palate, High palate, Narrow mouth	OMIM:618971
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Hypoplastic facial bones, Cleft p...	OMIM:616300
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly	OMIM:600151
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Meacham Syndrome	Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bicornuate uterus, En...	OMIM:608978
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Polydactyly, Smooth philtrum	OMIM:602501
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Short stature, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly o...	OMIM:619721
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Bifid uvula, Broad philtrum	ORPHA:2872
Branchiootic Syndrome	Cleft palate, Micrognathia, Lip pit, Branchial fistula	ORPHA:52429
Marden-Walker Syndrome	Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bifid uvula	ORPHA:2461
Opitz-Kaveggia Syndrome	Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip, Micrognathia, Pyloric st...	OMIM:305450
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney, Rheumatoid arthritis	ORPHA:79128
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing	OMIM:614104
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma...	OMIM:600430
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Kapur-Toriello Syndrome	Intestinal malrotation, Cleft palate, Cleft upper lip	OMIM:244300
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ...	OMIM:165590
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral b...	OMIM:615503
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate	OMIM:618891
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Aggressive behavior	OMIM:612716
Thoracoabdominal Syndrome	Cleft palate, Cleft upper lip	OMIM:313850
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	OMIM:617695
Zttk Syndrome	Abnormality of the dentition, Submucous cleft hard palate, Downturned corners of mouth, Thin verm...	OMIM:617140
Viss Syndrome	Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa...	OMIM:619472
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Death in childhood, Cleft palate, Cleft upper lip	OMIM:600460
Lymphedema-Distichiasis Syndrome	Cleft palate, Cleft upper lip	ORPHA:33001
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Mucolipidosis Ii Alpha/Beta	Osteopenia, Hepatomegaly, Craniosynostosis, Cardiomegaly, Splenomegaly, Limitation of joint mobil...	OMIM:252500
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:610042
Zimmermann-Laband Syndrome	Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocclusion, Macrog...	ORPHA:3473
Tonne-Kalscheuer Syndrome	Downturned corners of mouth, Velopharyngeal insufficiency, Widely spaced teeth, Narrow mouth	OMIM:300978
Chromosome 15Q25 Deletion Syndrome	Thin vermilion border, Tented upper lip vermilion, Cleft palate, Cleft upper lip	OMIM:614294
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ...	ORPHA:1106
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Unilateral cleft lip, Cleft palate, Micrognathia	OMIM:616897
Nephrotic Syndrome, Type 11	Micrognathia, Cleft lip, Cleft palate, High palate, Smooth philtrum	OMIM:616730
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Septooptic Dysplasia	Short stature, Polydactyly, Short finger	OMIM:182230
Smith-Magenis Syndrome	Everted upper lip vermilion, Velopharyngeal insufficiency, Orofacial cleft, Abnormality of the de...	OMIM:182290
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf...	ORPHA:449395
Koolen-De Vries Syndrome	Cleft upper lip, Pyloric stenosis, Narrow palate, Cleft palate, High palate, Widely spaced teeth,...	OMIM:610443
Meckel Syndrome, Type 6	Cleft palate, Cleft upper lip	OMIM:612284
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Flexion contracture, Hepatosple...	ORPHA:505248
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab...	ORPHA:2879
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Cleft palate	OMIM:606164
Congenital Sialidosis Type 2	Abnormal EKG, Edema, Protruding tongue, Gingival overgrowth, Telangiectasia, Polydactyly, Umbilic...	ORPHA:93400
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Short philtrum, Cleft palate	OMIM:617337
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Dental malocclusion	OMIM:613680
Acromelic Frontonasal Dysplasia	Wide mouth, Median cleft lip, Median cleft palate	ORPHA:1827
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Hypomandibular Faciocranial Dysostosis	Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Narrow mouth, Bifid uvula	ORPHA:1790
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Cleft palate, Downturned corners of mouth, Thin vermilion border, Short philtrum, Submucous cleft...	ORPHA:500150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Macroglossia, Death in infancy, Cleft palate, Cleft upper lip	OMIM:613150
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Cleft upper lip, Malrotation of colon, High,...	OMIM:122470
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Micrognathia, Cleft palate, Thick...	OMIM:242840
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Encephalocele, Synostosis...	ORPHA:90652
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue...	ORPHA:2750
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Edema, Polyhydramnios, Spina bifida, Cleft...	OMIM:616038
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula	OMIM:612350
Temple Syndrome	Bifid uvula	ORPHA:254516
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Clef...	OMIM:610828
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of mouth, Hip dyspla...	ORPHA:531151
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Meningocele, Cleft palate, Intr...	OMIM:614424
Corneal Dystrophy, Fuchs Endothelial, 2	Edema	OMIM:610158
Hypertelorism-Microtia-Facial Clefting Syndrome	Median cleft lip and palate	ORPHA:2213
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri...	ORPHA:2710
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal insufficien...	ORPHA:363444
Pentalogy Of Cantrell	Cleft palate, Non-midline cleft lip, Orofacial cleft	ORPHA:1335
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Edema, Mesomelic/rhizomelic limb shortening, Hypop...	ORPHA:2347
Holoprosencephaly 2	Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in...	OMIM:157170
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Thin upper lip vermilion, Downturned corners of mouth, Short philtrum, Long philtrum, Bifid uvula	OMIM:619121
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ...	ORPHA:449291
Lymphedema-Distichiasis Syndrome	Micrognathia, Cleft palate, Cleft upper lip	OMIM:153400
Leprechaunism	Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy...	ORPHA:508
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Holoprosencephaly 3	Solitary median maxillary central incisor, Cleft lip, Bifid uvula, Cleft palate	OMIM:142945
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Polyhydramn...	OMIM:247200
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp...	ORPHA:989
Acrocardiofacial Syndrome	Anal atresia, Death in infancy, Cleft palate, Cleft upper lip	ORPHA:2008
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hip dysplasia, Deviation of the ...	OMIM:616362
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Joubert Syndrome 23	Polydactyly	OMIM:616490
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620242
Alg3-Cdg	Macroglossia, Abnormal uvula morphology, High palate	ORPHA:79321
Christianson Syndrome	Abnormal repetitive mannerisms, Inappropriate laughter, Dysphagia	ORPHA:85278
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting	ORPHA:3306
Severe Intellectual Disability And Progressive Spastic Paraplegia	Abnormal repetitive mannerisms	ORPHA:280763
Autosomal Recessive Centronuclear Myopathy	High palate, Bifid uvula, Narrow mouth	ORPHA:169186
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Long p...	OMIM:617895
Campomelic Dysplasia	Irregular dentition, Carious teeth, Submucous cleft hard palate, Cleft palate, High palate, Narro...	OMIM:114290
Mesomelia-Synostoses Syndrome	Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Abnormal oral frenulum morpho...	ORPHA:2496
Lamb-Shaffer Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Abnormal temper tantrums	ORPHA:530983
Nijmegen Breakage Syndrome	Anal stenosis, Sinusitis, Cleft upper lip, Micrognathia, Malar prominence, Deep philtrum, Cleft p...	OMIM:251260
Retinitis Pigmentosa 89	Esophageal varix, Postaxial polydactyly	OMIM:618955
Rhombencephalosynapsis	Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact...	ORPHA:59315
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter	OMIM:618347
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Neoplasm of the tongue, Submucous cleft hard palate, Bifid uvula	ORPHA:3047
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Cleft palate, Forearm undergrow...	OMIM:251230
Frontofacionasal Dysplasia	Cleft upper lip, Orofacial cleft, Malar flattening, Bifid uvula, Hypoplasia of the frontal bone	OMIM:229400
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har...	OMIM:300166
Ovarian Fibrothecoma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology	ORPHA:314478
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Restrictive Dermopathy 1	Natal tooth, Submucous cleft hard palate, Stillbirth, Narrow mouth, Neonatal death	OMIM:275210
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Downturned corners of mouth,...	ORPHA:3455
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Vacterl/Vater Association	Anal atresia, Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate	ORPHA:887
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Biliary hyperplasia, Splenomegaly, Pancr...	ORPHA:731
Stickler Syndrome	Abnormal dental enamel morphology, Cleft upper lip, Open bite, Micrognathia, Hypoplasia of the ma...	ORPHA:828
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, High palate, Bifid uvula	OMIM:601110
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongu...	OMIM:616546
Functioning Gonadotropic Adenoma	Osteopenia, Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, ...	ORPHA:91348
Kyphomelic Dysplasia	Micrognathia, Cleft palate, Cleft upper lip	OMIM:211350
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Esophageal varix, Growth delay, Hip dysplasia, Inflammation of the large i...	OMIM:614576
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Isolated Arrhinia	Facial cleft	ORPHA:1134
Pseudotrisomy 13 Syndrome	Median cleft lip and palate, Anal atresia, Cleft upper lip	OMIM:264480
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas...	ORPHA:116
Cardiac-Urogenital Syndrome	Bifid scrotum, Ambiguous genitalia, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, P...	OMIM:618280
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Malabsorption...	ORPHA:50
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, High palate, Clinod...	ORPHA:3103
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary	ORPHA:247768
Xq28 (MECP2) duplication	Abnormal repetitive mannerisms, Dysphagia	DECIPHER:45
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Cleft upper lip, Micrognathia, Hypoplasia of the maxilla, Gingival overgrowth, Cleft palate, Micr...	OMIM:213980
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Potocki-Lupski Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	OMIM:610883
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Renal cyst	OMIM:617100
Joubert Syndrome 7	Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per...	OMIM:616843
Pallister-Hall Syndrome	Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Microglossia, Anal atresia	OMIM:146510
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Cleft upper lip, Micrognathia, Trismus, Velopharyngeal insufficiency, Temp...	OMIM:154400
Cerebrocostomandibular Syndrome	Glossoptosis, Short hard palate, Cleft palate, Death in infancy	ORPHA:1393
Faciocardiorenal Syndrome	Smooth philtrum, Hypodontia, Cleft palate, Narrow mouth	ORPHA:1973
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial...	OMIM:619879
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u...	ORPHA:2752
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pi...	ORPHA:2886
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios	OMIM:615824
Catel-Manzke Syndrome	Cleft upper lip, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Na...	OMIM:616145
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec...	OMIM:619580
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Submucous cleft hard palate, Thick vermilion border, Bifid uvula, Cleft palate	ORPHA:2636
3Mc Syndrome 1	Cleft lip, Dental crowding, Cleft palate, Cleft upper lip	OMIM:257920
Bor Syndrome	Branchial cyst, Retrognathia, Cleft palate	ORPHA:107
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Cri-Du-Chat Syndrome	Thick lower lip vermilion, Orofacial cleft, Downturned corners of mouth, Anterior open-bite maloc...	OMIM:123450
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Camptodactyly, Nephroblastoma, Bifid ureter, Enl...	ORPHA:500095
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv...	OMIM:300986
Hartsfield Syndrome	Median cleft lip, Hypoplasia of the frontal bone, Cleft palate, Cleft upper lip	OMIM:615465
Nail-Patella Syndrome	Cleft palate, Cleft upper lip	OMIM:161200
Holoprosencephaly 1	Short stature, Facial cleft, Median cleft lip and palate	OMIM:236100
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:618430
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short stature, Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand, H...	OMIM:300968
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P...	OMIM:209900
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Odontogenic keratocysts of the jaw, Cleft upper lip, Hamartomatous stomach...	OMIM:109400
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms	OMIM:301094
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Med...	OMIM:269860
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t...	OMIM:607812
Neuroocular Syndrome	Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus...	OMIM:619539
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,...	OMIM:615873
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Anal...	OMIM:607323
Developmental And Epileptic Encephalopathy 6B	Abnormal repetitive mannerisms	OMIM:619317
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Holoprosencephaly	Median cleft lip, Bilateral cleft lip, Deep philtrum, Tooth agenesis, Intestinal atresia, Branchi...	ORPHA:2162
Hereditary Angioedema Type 1	Abnormal soft palate morphology, Abnormal uvula morphology, Tongue edema, Intestinal edema	ORPHA:100050
Joubert Syndrome 37	Short stature, High palate, Postaxial polydactyly	OMIM:619185
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Wide mouth, Thick vermilion border, Bifid uvula, Abnormality of the dentition	OMIM:618505
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology	ORPHA:722
Trisomy 18	Microretrognathia, Esophageal atresia, Non-midline cleft lip, Narrow palate, Cleft palate, Narrow...	ORPHA:3380
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261537
Fryns Syndrome	Microretrognathia, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cle...	OMIM:229850
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Abnormal repetitive mannerisms	OMIM:619092
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:2152
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Thin vermilion border, Bifid uvula, Long philtrum	OMIM:241410
Kinsship Syndrome	Thin upper lip vermilion, Short stature, Single transverse palmar crease, Coxa valga, Thick lower...	OMIM:619297
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Abnormal repetitive mannerisms	OMIM:613443
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Postnatal growth retardation, Epiphysea...	OMIM:302960
Craniofrontonasal Syndrome	Abnormality of the dentition, Cleft palate, Cleft upper lip	OMIM:304110
Moebius Syndrome	High palate, Bifid uvula, Abnormality of the dentition	OMIM:157900
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Short stature, 2-4 toe syndactyly, 2-3 toe syndact...	OMIM:614099
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Wide mouth, Median pseudocleft lip, Retrognathia	OMIM:619758
Coffin-Siris Syndrome 7	Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors	OMIM:618027
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Bruxism, Re...	OMIM:300912
Cerebrooculonasal Syndrome	Encephalocele, Postaxial polydactyly, Postnatal growth retardation, Postaxial hand polydactyly, N...	OMIM:605627
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda...	OMIM:617527
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Short stature, Polyhydramnios, Postaxial hand polydactyly, Hydrops fetali...	OMIM:613610
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Anal atresia, Micrognathia, Cleft palate, Cleft upper lip	OMIM:236670
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior	OMIM:618914
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth,...	OMIM:604292
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Chromosome 1P36 Deletion Syndrome, Distal	Cleft upper lip, Submucous cleft hard palate, Orofacial cleft, High palate, Long philtrum, Bifid ...	OMIM:607872
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Hypoplasia of ...	OMIM:129900
Tetraamelia Syndrome 1	Anal atresia, Micrognathia, Cleft palate, Cleft upper lip	OMIM:273395
Branchiootorenal Syndrome 1	Intestinal malrotation, Cleft palate, High palate, Increased overbite, Microdontia, Bifid uvula	OMIM:113650
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:411986
Dentici-Novelli Neurodevelopmental Syndrome	Abnormal repetitive mannerisms	OMIM:619877
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Block vertebrae, Cardiomegaly, Horseshoe kidney, Enlarged kidney	OMIM:306955
Coffin-Siris Syndrome 12	Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate	OMIM:619325
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Tricuspid regurgitation, Intestinal malrotation, Hamartoma of tongue, Preaxial ...	OMIM:263520
Ogden Syndrome	Global glomerulosclerosis, Cardiomegaly, Cryptorchidism, Hydrocele testis, Polycystic kidney dysp...	OMIM:300855
Meckel Syndrome, Type 1	Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ...	OMIM:249000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, Flexion contracture, Abnormal ovarian morphology, Vesico...	ORPHA:95699
Oculopalatocerebral Syndrome	Cleft palate	OMIM:257910
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting	OMIM:618314
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism	OMIM:618004
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly	OMIM:261740
Rabson-Mendenhall Syndrome	Dental crowding, Short stature, Abnormality of the dentition, Gingival overgrowth, Furrowed tongu...	ORPHA:769
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261552
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening...	OMIM:613717
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Dental crowding, High, narrow palate, Thick lower lip vermilion, Cleft palate, Short philtrum, Bi...	OMIM:309583
Sweeney-Cox Syndrome	Velopharyngeal insufficiency, High palate, Short philtrum, Narrow mouth, Median cleft palate, Ana...	OMIM:617746
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Wolf-Hirschhorn Syndrome	Abnormality of the philtrum, Cleft upper lip, Micrognathia, Cleft palate, Downturned corners of m...	ORPHA:280
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Abnormal repetitive mannerisms	OMIM:617751
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Abnormal repetitive mannerisms, Self-mutilation	ORPHA:457240
Holoprosencephaly 14	Cleft lip, Median cleft lip, Cleft palate	OMIM:619895
Nijmegen Breakage Syndrome	Anal stenosis, Deep philtrum, Non-midline cleft lip, Cleft palate, Retrognathia, Anal atresia	ORPHA:647
Hyperphosphatasia-Intellectual Disability Syndrome	Tented upper lip vermilion, Aganglionic megacolon, Anteriorly placed anus, Downturned corners of ...	ORPHA:247262
Marshall Syndrome	Thick lower lip vermilion, Pierre-Robin sequence, Cleft palate, Long philtrum, Macrodontia of per...	OMIM:154780
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Larsen Syndrome	Malar flattening, Hypodontia, Cleft palate, Cleft upper lip	OMIM:150250
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Short stature, Cleft lip, Cleft palate, Submucous cleft of soft and har...	OMIM:301022
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ...	OMIM:235730
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Intellectual Developmental Disorder, Autosomal Dominant 52	Abnormal repetitive mannerisms, Hyperactivity, Obsessive-compulsive trait, Pica	OMIM:617796
Distal Deletion 12Q	Median cleft lip, Micrognathia, High, narrow palate, Supernumerary tooth, Esophageal atresia, Pyl...	ORPHA:96149
Restrictive Dermopathy	Natal tooth, Submucous cleft hard palate, Microcolon, Narrow mouth	ORPHA:1662
Mckusick-Kaufman Syndrome	Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Short stature, Postaxial hand polyda...	ORPHA:2473
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ...	OMIM:617061
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Dental malocclusion, Cl...	OMIM:616580
Neuhauser Syndrome	High palate, Bifid uvula, Long philtrum	OMIM:249310
Aicardi Syndrome	Hiatus hernia, Prominence of the premaxilla, Cleft palate, Cleft upper lip	OMIM:304050
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	ORPHA:488618
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Short stature, Postaxial polydactyly, Accessory oral frenulum, Polyhydramnios, ...	OMIM:617088
Developmental And Epileptic Encephalopathy 66	Abnormal repetitive mannerisms	OMIM:618067
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1727
Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Bifid uvula, Cleft palate	ORPHA:1427
Loeys-Dietz Syndrome 4	Eosinophilic infiltration of the esophagus, High, narrow palate, High palate, Broad uvula, Bifid ...	OMIM:614816
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Mend Syndrome	Overlapping toe, Broad hallux, Short stature, Long fingers, 2-3 toe syndactyly, Polydactyly, High...	OMIM:300960
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal repetitive mannerisms, Dysphagia	ORPHA:79264
Diamond-Blackfan Anemia 1	Micrognathia, Cleft upper lip, Cleft palate, Colon cancer, High palate, Retrognathia	OMIM:105650
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Polyhydramnios, High, narrow palate, High palat...	OMIM:180849
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly	ORPHA:314655
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
48,Xxyy Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:10
Meckel Syndrome 12	Bifid uvula	OMIM:616258
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:168491
Snijders Blok-Campeau Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618205
Adnp Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap, Short statur...	ORPHA:404448
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Abnormal repetitive mannerisms	ORPHA:927
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Repetitive compulsive behavior, Abnormal repetitive mannerisms, Dysphagia, Bruxism	OMIM:300260
Wolf-Hirschhorn Syndrome	Cleft upper lip, Micrognathia, Malrotation of small bowel, Cleft palate, Orofacial cleft, Short u...	OMIM:194190
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:613174
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Short stature, Pyloric steno...	ORPHA:464306
Blepharophimosis-Impaired Intellectual Development Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness	OMIM:619293
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder	ORPHA:64280
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition	OMIM:615802
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Abnormal r...	OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Fraser-Like Syndrome	Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger	OMIM:229230
Ritscher-Schinzel Syndrome 4	Impulsivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior	OMIM:619435
Spondyloepiphyseal Dysplasia Congenita	Pierre-Robin sequence, Bifid uvula, Cleft palate	OMIM:183900
Intellectual Developmental Disorder, Autosomal Dominant 38	Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms	OMIM:616393
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi...	ORPHA:352665
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic...	OMIM:312870
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ...	OMIM:614976
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	High palate, Bifid uvula	OMIM:300472
Steinfeld Syndrome	Bifid uvula, Median cleft lip and palate	OMIM:184705
Apert Syndrome	Delayed eruption of teeth, Esophageal atresia, Cleft palate, Narrow palate, Ectopic anus, Bifid u...	ORPHA:87
White-Sutton Syndrome	Cleft palate, Downturned corners of mouth, Thin vermilion border, Short philtrum, High palate, Bi...	OMIM:616364
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Prea...	OMIM:617925
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Cleft upper lip, High, narrow palate, Cleft palate, Wide mouth, Macroglossia	ORPHA:373
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Abnormal repetitive mannerisms	OMIM:617807
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Tracheoesophageal fi...	ORPHA:138
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per...	OMIM:180700
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C...	OMIM:261540
Barber-Say Syndrome	Delayed eruption of teeth, Velopharyngeal insufficiency, Dental malocclusion, Gingival overgrowth...	OMIM:209885
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate	ORPHA:1969
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Cleft upper lip	OMIM:308050
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms	OMIM:619428
Progeria-Short Stature-Pigmented Nevi Syndrome	Selective tooth agenesis, Dental malocclusion, Hypodontia, Bifid uvula, Fragile teeth	ORPHA:2959
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Polyhydramnios, High palate, Syndactyly, Broad hallux, Short stature, Supernumer...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Polyhydramnios, High palate, Syndactyly, Broad hallux, Short stature, Supernumer...	ORPHA:353277
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Orofaci...	ORPHA:77301
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Gingival overgrowth, Narrow palate, Anteriorly placed anus, High palate, Narrow mout...	OMIM:123790
Aprosencephaly And Cerebellar Dysgenesis	Bifid uvula	OMIM:601374
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal repetitive mannerisms	ORPHA:500159
Fraser Syndrome	Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, Ectopic an...	ORPHA:2052
Rauch-Steindl Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Prader-Willi Syndrome Due To Translocation	Thin upper lip vermilion, Carious teeth, Alveolar ridge overgrowth, Cleft palate, Microdontia of ...	ORPHA:177907
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, High palat...	ORPHA:453499
Pallister-Hall Syndrome	Bifid uvula, Mesoaxial polydactyly, Radial bowing, Short stature, Accessory oral frenulum, Cleft ...	ORPHA:672
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Abnormal acetabulum morphology, Short stature, Postaxial polydactyly, Rh...	ORPHA:397715
Rett Syndrome	Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing	ORPHA:778
Focal Dermal Hypoplasia	Delayed eruption of teeth, Intestinal malrotation, Cleft upper lip, Hiatus hernia, Dental maloccl...	OMIM:305600
Adams-Oliver Syndrome 1	Cleft palate, Cleft upper lip	OMIM:100300
Branchiooculofacial Syndrome	Abnormality of the dentition, Malrotation of colon, Cleft upper lip, Lower lip pit, Pyloric steno...	OMIM:113620
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Mitral regurgitation, Postaxial polydactyly	OMIM:603387
Neu-Laxova Syndrome 1	Cleft upper lip, Swollen lip, Thick lower lip vermilion, Cleft palate, Stillbirth, Neonatal death	OMIM:256520
Congenital Disorder Of Glycosylation, Type It	Pierre-Robin sequence, Bifid uvula, Cleft palate	OMIM:614921
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep...	ORPHA:476126
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypoplasia of the tooth germ, Bifid uvula	ORPHA:293967
Alobar Holoprosencephaly	Median cleft lip, Cleft palate, High palate, Solitary median maxillary central incisor, Bifid uvula	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Cleft palate, High palate, Solitary median maxillary central incisor, Bifid uvula	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Cleft palate, High palate, Solitary median maxillary central incisor, Bifid uvula	ORPHA:93924
Semilobar Holoprosencephaly	Median cleft lip, Cleft palate, High palate, Solitary median maxillary central incisor, Bifid uvula	ORPHA:220386
Ventriculomegaly With Cystic Kidney Disease	Polyhydramnios, Postaxial polydactyly	OMIM:219730
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co...	OMIM:149730
Peters Plus Syndrome	Intestinal fistula, Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Micrognat...	ORPHA:709
15Q Overgrowth Syndrome	Dental crowding, High, narrow palate, High palate, Bifid uvula, Smooth philtrum, Abnormality of t...	ORPHA:314585
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Abnormal periodontium morphology, High palate, Short stature, Tapered...	ORPHA:480880
Cystinosis	Polydipsia, Abnormal repetitive mannerisms	ORPHA:213
Degcags Syndrome	Polyhydramnios, High palate, Intrauterine growth retardation, Syndactyly, Hiatus hernia, Short th...	OMIM:619488
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism	OMIM:613546
Sifrim-Hitz-Weiss Syndrome	Anteriorly placed anus, Bifid uvula	OMIM:617159
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Elsahy-Waters Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Supernumerary tooth, Agenesis...	OMIM:211380
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Edema,...	OMIM:236700
Craniofacial Microsomia 1	Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Wide mouth, Branchial ano...	OMIM:164210
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Tented upper lip vermilion, Short stature, Postaxial polydactyly, Triang...	OMIM:618460
Chromosome 15Q11.2 Deletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:615656
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms	ORPHA:261144
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Median cleft lip, Orofacial cleft	ORPHA:3186
Cerebral Creatine Deficiency Syndrome 1	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:300352
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Thin upper lip vermilion, Deep philtrum, High palate, Widely spaced teeth, Long philtrum, Triangu...	OMIM:617506
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1001
Arterial Tortuosity Syndrome	Long philtrum, High palate, Bifid uvula, Hiatus hernia	OMIM:208050
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:610253
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati...	ORPHA:2729
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Preaxial polydactyly, Cleft palate, Wide mouth, Duodenal...	OMIM:243605
Frontometaphyseal Dysplasia 2	Pyloric stenosis, Deep philtrum, Pierre-Robin sequence, Cleft palate, Ulcerative colitis, High pa...	OMIM:617137
Rett Syndrome, Congenital Variant	Tongue thrusting, Abnormal repetitive mannerisms, Bruxism	OMIM:613454
Joubert Syndrome 6	Abnormal repetitive mannerisms	OMIM:610688
Congenital Disorder Of Glycosylation, Type Iia	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Aggressive behavior	OMIM:212066
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Orofacial cleft, Growth delay, Polydactyly, Hypertrophic cardiomyopathy	ORPHA:17
Apert Syndrome	Delayed eruption of teeth, Esophageal atresia, Pyloric stenosis, Dental malocclusion, Cleft palat...	OMIM:101200
Classical-Like Ehlers-Danlos Syndrome Type 2	Long uvula, Premature loss of teeth, Narrow palate, High palate, Periodontitis, Tooth malposition	ORPHA:536532
Proximal 16P11.2 Microdeletion Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:261197
Phelan-Mcdermid Syndrome	Tongue thrusting, Abnormal repetitive mannerisms, Aggressive behavior, Bruxism	OMIM:606232
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Esophageal atresia...	OMIM:192350
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet...	ORPHA:468678
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Faciocardiomelic Syndrome	Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtrum	OMIM:612731
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation	ORPHA:99819
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequent temper ...	OMIM:619575
Hydrolethalus Syndrome 1	Stillbirth, Median cleft lip, Cleft palate	OMIM:236680
Joubert Syndrome 39	Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Orofaciodigital Syndrome Xiv	Natal tooth, Occipital encephalocele, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial han...	OMIM:615948
Neurocardiofaciodigital Syndrome	Syndactyly, Short stature, Thin vermilion border, High palate, Polydactyly	OMIM:619869
Den Hoed-De Boer-Voisin Syndrome	Agitation, Abnormal repetitive mannerisms, Stereotypical hand wringing, Dysphagia	OMIM:619229
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Rectovaginal fistula, Absent uvula, Intestinal atresia	OMIM:619708
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Choanal Atresia	Polydactyly	ORPHA:137914
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Kleefstra Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior	ORPHA:261494
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:457351
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ...	OMIM:268310
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Wide mouth, Long philtrum, Microdontia, Bif...	OMIM:613458
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia	ORPHA:447997
Trichohepatoenteric Syndrome 1	Villous atrophy, Narrow mouth, Wide mouth, Long philtrum, Bifid uvula	OMIM:222470
Van Esch-O'Driscoll Syndrome	Esophageal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Wide mouth, Bifid uvula	OMIM:301030
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms	ORPHA:2479
Bainbridge-Ropers Syndrome	Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:615485
Ring Chromosome 7 Syndrome	Cleft palate, Thin vermilion border, Short philtrum, Median cleft palate, Narrow mouth, Bifid uvula	ORPHA:1449
Microphthalmia, Syndromic 1	Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Rectal prolapse, Py...	OMIM:309800
Legius Syndrome	Short stature, Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosi...	ORPHA:137605
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	High palate, Bifid uvula, Dental malocclusion	OMIM:601552
Charge Syndrome	Anal stenosis, Cleft upper lip, Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Clef...	OMIM:214800
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Syndactyly, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, P...	OMIM:619534
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms	OMIM:300672
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Thick vermilion border, Exaggerated cupid's bow, Bifid uvula, Narrow mouth	OMIM:619480
Roberts-Sc Phocomelia Syndrome	Micrognathia, Cleft upper lip, Cleft palate, High palate, Malar flattening, Hyperplasia of the ma...	OMIM:268300
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinophilic infiltration...	OMIM:610168
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting	ORPHA:522077
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder	OMIM:619005
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Bifid uvula, Cleft palate, Narrow mouth	OMIM:130070
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased ...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased ...	ORPHA:99228
Monosomy X	Osteopenia, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased ...	ORPHA:99226
Turner Syndrome	Osteopenia, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Increased ...	ORPHA:881
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Abnormal ...	ORPHA:96121
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:496641
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal repetitive mannerisms	ORPHA:300570
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5th finger, Open mouth	ORPHA:457284
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Accessory oral frenulum, Wide mouth, Macroglossia, Widely spaced teeth, High palate, Microdontia,...	OMIM:266920
Niemann-Pick Disease, Type C2	Abnormal repetitive mannerisms, Dysphagia	OMIM:607625
Wiedemann-Steiner Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior	ORPHA:319182
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Trisomy 8P	Thin vermilion border, Malrotation of small bowel, Bifid uvula, Cleft palate	ORPHA:264450
Meester-Loeys Syndrome	High palate, Bifid uvula, Gingival overgrowth	OMIM:300989
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ...	OMIM:619512
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Growth delay, Polydactyly, Hypotension, Delayed puberty, Abnormal digit morph...	ORPHA:95494
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:610954
Loeys-Dietz Syndrome	High palate, Bifid uvula, Orofacial cleft	ORPHA:60030
Tetrasomy 9P	Median cleft lip and palate, Dental crowding, Abnormal dental enamel morphology, Cleft palate, Do...	ORPHA:3310
Frontometaphyseal Dysplasia	Oligodontia, Bifid uvula, Cleft palate	ORPHA:1826
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha...	OMIM:619475
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Natal tooth, Carious teeth, Downturned corners of mouth, Ankyloglossia,...	OMIM:620186
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Enamel hypoplasia...	ORPHA:2363
Loeys-Dietz Syndrome 1	Cleft palate, Bifid uvula, Eosinophilic infiltration of the esophagus	OMIM:609192
Smith-Lemli-Opitz Syndrome	Death in infancy, Aganglionic megacolon, Dental crowding, Intestinal malrotation, Pyloric stenosi...	OMIM:270400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Thin upper lip vermilion, Thick lower lip vermilion, Thin vermilion border, Widely spaced teeth, ...	OMIM:612474
Baller-Gerold Syndrome	Cleft palate, Perineal fistula, Anteriorly placed anus, Thin vermilion border, Rectovaginal fistu...	OMIM:218600
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Abnormal repetitive mannerisms	OMIM:301040
Fanconi Anemia	Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ...	ORPHA:84
Mucopolysaccharidosis Type 2	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma...	ORPHA:580
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Abnormal repetitive mannerisms	ORPHA:508533
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:464311
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Developmental And Epileptic Encephalopathy 100	Abnormal repetitive mannerisms, Dysphagia	OMIM:619777
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:301066
Scalp-Ear-Nipple Syndrome	Bifid uvula, Agenesis of permanent teeth	OMIM:181270
Aneurysm-Osteoarthritis Syndrome	High palate, Bifid uvula, Cleft palate, Dental malocclusion	ORPHA:284984
Mesomelia-Synostoses Syndrome	Absent uvula	OMIM:600383
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:468631
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Abnormal repetitive mannerisms	OMIM:618653
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repetitive mannerisms	ORPHA:513456
Digeorge Syndrome	High, narrow palate, Cleft palate, High palate, Short philtrum, Bifid uvula	OMIM:188400
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ...	ORPHA:534
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Abnormal repetitive mannerisms	OMIM:309590
Hypotonia, Ataxia, And Delayed Development Syndrome	Abnormal repetitive mannerisms, Dysphagia	OMIM:617330
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:614756
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms	ORPHA:508498
Arboleda-Tham Syndrome	Abnormal repetitive mannerisms, Dysphagia	OMIM:616268
Nmda Receptor Encephalitis	Hypersexuality, Agitation, Abnormal repetitive mannerisms	ORPHA:217253
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Tented upper lip vermilion, I...	OMIM:601803
1P36 Deletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia	ORPHA:1606
Loeys-Dietz Syndrome 3	Eosinophilic infiltration of the esophagus, Dental malocclusion, Cleft palate, High palate, Bifid...	OMIM:613795
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms	OMIM:301044
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Abnormal repetitive mannerisms	OMIM:616682
Lowe Oculocerebrorenal Syndrome	Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000
Carney Complex	Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho...	ORPHA:1359
Primrose Syndrome	Restlessness, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyperactivity...	OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia	OMIM:619522
Norrie Disease	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	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

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E14.5-E15.5

Gross Morphology Embryo E9.5

Human diseases caused by Esrp1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data