Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

120 Images

View images

Gross Morphology Embryo E14.5-E15.5

Images

26 Images

View images

Gross Morphology Embryo E9.5

Images

7 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

View images

Human diseases caused by Esrp1 mutations

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

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

Human diseases associated with Esrp1 (1 diseases)
Human diseases predicted to be associated with Esrp1 (1090 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	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608631
Orofacial Cleft 10	Unilateral cleft lip, Unilateral cleft palate	OMIM:613705
Orofacial Cleft 1	Cleft upper lip, Cleft palate	OMIM:119530
Orofacial Cleft 5	Cleft upper lip, Cleft palate	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft upper lip, Cleft palate	OMIM:608864
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft upper lip, Cleft palate	OMIM:106250
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Autism, Susceptibility To, X-Linked 4	Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity, Motor tics	OMIM:300830
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder	OMIM:613003
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1074
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Uvula, Bifid	Bifid uvula	OMIM:192100
Autism, Susceptibility To, X-Linked 3	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300425
Bifid Uvula	Cleft lip, Bifid uvula, Submucous cleft soft palate	ORPHA:99771
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Gilles De La Tourette Syndrome	Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut...	OMIM:137580
Cleft Palate, Deafness, And Oligodontia	Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors	OMIM:618830
Orofacial Cleft 14	Median cleft upper lip	OMIM:615892
Familial Median Cleft Of The Upper And Lower Lips	Fusion of gums, Irregular dentition, Cleft upper lip, Cleft lower lip, Diastema, Median cleft upp...	ORPHA:401942
Autism	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:209850
Autism, Susceptibility To, 8	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:607373
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Lipedema	Edema	OMIM:614103
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Motor stereotypy	OMIM:300271
Facial Clefting, Oblique, 1	Cleft upper lip, Tessier number 4 facial cleft, Cleft palate	OMIM:600251
Holzgreve Syndrome	Cleft upper lip, Cleft palate	OMIM:236110
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate	ORPHA:2736
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Congenital Velopharyngeal Incompetence	Abnormal palate morphology, Velopharyngeal insufficiency	ORPHA:2291
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Disorganization, Mouse, Homolog Of	Cleft upper lip, Cleft palate	OMIM:223200
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Bencze Syndrome	Submucous cleft hard palate, Open bite	ORPHA:1241
Intellectual Developmental Disorder, Autosomal Recessive 2	Attention deficit hyperactivity disorder, Self-injurious behavior	OMIM:607417
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Advanced eruption of teeth, Solitary median maxillary central incisor, Clinodactyl...	ORPHA:952
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft upper lip, Cleft palate	OMIM:179400
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Angioedema, Hereditary, 6	Angioedema, Facial edema, Edema of the dorsum of hands	OMIM:619363
Pierre Robin Syndrome	Pierre-Robin sequence, Glossoptosis, Cleft palate	OMIM:261800
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Cleft palate, Death in infancy	OMIM:258320
Cleft Lip-Retinopathy Syndrome	Non-midline cleft of the upper lip	ORPHA:1995
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ...	ORPHA:2919
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi...	OMIM:113100
Isolated Pierre Robin Syndrome	Cleft palate, Glossoptosis	ORPHA:718
Megaepiphyseal Dwarfism	Cleft palate	OMIM:249230
Coffin-Siris Syndrome 11	Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid...	OMIM:618779
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Cleft Palate-Lateral Synechia Syndrome	Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia	ORPHA:2016
Thomas Syndrome	Cleft upper lip, Cleft palate	ORPHA:3316
Autism, Susceptibility To, X-Linked 2	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:300495
2q33.1 deletion syndrome	Cleft palate, High palate	DECIPHER:51
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal...	OMIM:174200
Anencephaly 2	Cleft maxillary alveolar ridge, Median cleft palate, Median cleft upper lip	OMIM:619452
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Pierre Robin Sequence With Facial And Digital Anomalies	Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Glossoptosis,...	OMIM:311895
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the dentition, Abnormality of the humerus, Short stature, Camptodac...	ORPHA:1794
Cleft Palate, Isolated	Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite	OMIM:119540
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Cleft palate	OMIM:120433
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate, Lip pit	ORPHA:1072
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Short stature, Cleft palate, Short foot, Small hand	OMIM:300261
X-Linked Intellectual Disability, Siderius Type	Orofacial cleft, Cleft upper lip	ORPHA:85287
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Cleft palate, Ankyloglossia	OMIM:303400
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Birk-Barel Syndrome	Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion	OMIM:612292
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency	OMIM:617732
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Non-midline cleft of the upper lip	ORPHA:2007
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Cleft upper lip, Foot oligodactyly...	OMIM:601357
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Sprengel Deformity	Cleft palate	ORPHA:3181
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Intellectual Developmental Disorder With Autism And Speech Delay	Motor stereotypy	OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Motor stereotypy, Pica	OMIM:617270
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Abnormal hip bone morphology, Cleft palate, Upper limb phocomelia, Syndactyly	ORPHA:294975
Fryns Microphthalmia Syndrome	Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip	OMIM:600776
Anophthalmia Plus Syndrome	Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bifida, Deviatio...	ORPHA:1104
Chromosome 17Q12 Duplication Syndrome	Smooth philtrum, Esophageal atresia, Cleft soft palate	OMIM:614526
Multiple Synostoses Syndrome 3	Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,...	OMIM:612961
Parietal Foramina 1	Cleft upper lip, Cleft palate	OMIM:168500
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P...	OMIM:618167
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate	ORPHA:1484
Microphthalmia, Syndromic 11	Cleft upper lip, Cleft palate	OMIM:614402
Parc Syndrome	Cleft palate	OMIM:600331
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormal palate morphology, Bilateral single transverse palmar creases, Clinodacty...	ORPHA:1786
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, 2-3 toe syndactyly, Narrow mouth, Cleft upper lip, Cleft palate, Short 5th finger,...	OMIM:239800
Orofaciodigital Syndrome Xix	Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Narrow mouth, Micro...	OMIM:620107
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft of the upper lip, Cleft palate	ORPHA:85273
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, High, narrow palate, Ethmoidal encephalocele, Cleft upper lip, Cleft palate, Broad...	OMIM:607597
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Agitation, Motor stereotypy, Aggressive behavior	OMIM:617171
Microphthalmia, Syndromic 8	Orofacial cleft, Mandibular prognathia, Cleft upper lip, Cleft palate, Widely-spaced maxillary ce...	OMIM:601349
Mmep Syndrome	Orofacial cleft, Median cleft upper lip	ORPHA:3434
Chromosome 15Q11-Q13 Duplication Syndrome	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608636
Microcephaly 30, Primary, Autosomal Recessive	Pierre-Robin sequence, Thin upper lip vermilion, Cleft soft palate	OMIM:620183
Weaver-Williams Syndrome	Cleft palate, Narrow mouth	ORPHA:3448
Split hand/foot malformation 1 (SHFM1)	Cleft palate, Median cleft upper lip	DECIPHER:46
Cerebrooculonasal Syndrome	Tessier cleft, Widely spaced teeth, Solitary median maxillary central incisor, High palate, Posta...	ORPHA:66625
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Arthrogryposis, Distal, Type 1C	Rocker bottom foot, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder flexion contr...	OMIM:619110
Mucopolysaccharidosis, Type Ix	Submucous cleft hard palate, Bifid uvula	OMIM:601492
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Self-injurious behavior, Aggressive behavior	OMIM:619031
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Bifid uvula	OMIM:256200
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula	OMIM:619239
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Short stature, Metatarsus adductus,...	OMIM:613005
Diprosopus	Non-midline cleft of the upper lip, Cleft palate	ORPHA:1681
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Bifid uvula, High palate, Median cleft upper lip	OMIM:155145
Intellectual Developmental Disorder, X-Linked 90	Bifid uvula, High palate	OMIM:300850
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Bifid uvula, ...	OMIM:617412
Robinow Syndrome, Autosomal Dominant 2	Triangular mouth, Cleft soft palate, Dental crowding, Oligodontia, Gingival overgrowth, Abnormali...	OMIM:616331
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Abnormal mandible morphology, Natal tooth	OMIM:217150
Robinow Syndrome, Autosomal Recessive 2	Cleft soft palate, Triangular mouth, Gingival overgrowth, Abnormality of the dentition, Long phil...	OMIM:618529
Intellectual Developmental Disorder, Autosomal Recessive 44	Long philtrum, Thin vermilion border, Bifid uvula	OMIM:615942
Amish Lethal Microcephaly	Cleft soft palate, Death in infancy	ORPHA:99742
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ...	ORPHA:3104
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Hyperactivity, Dysphagia, Impulsivity	OMIM:620448
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli...	OMIM:183600
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Hypodontia, High, narrow palate, Submucous cleft hard palate, Glossoptosis	ORPHA:3201
Genitopalatocardiac Syndrome	Cleft upper lip, Micrognathia, Cleft palate	OMIM:231060
Adducted Thumbs Syndrome	Velopharyngeal insufficiency, High, narrow palate, Cleft palate, High palate	OMIM:201550
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Multiple Epiphyseal Dysplasia, Lowry Type	Cleft hard palate	ORPHA:166016
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Cleft palate, Intrauterine growth retardation, Edema, Talipes equinovarus	OMIM:616570
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Short philtrum, Accessory oral frenulum, Sandal gap, Single tr...	OMIM:617927
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Bifid uvula	ORPHA:2669
Spastic Paraplegia 81, Autosomal Recessive	Bifid uvula, Cleft palate	OMIM:618768
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Micrognathia, Cleft palate, Thin upper lip vermilion	ORPHA:2015
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hepatosplen...	OMIM:619902
Mesomelic Limb Shortening And Bowing	Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Cleft palate, Bowing...	OMIM:249710
Hyperprolinemia, Type I	Hyperactivity, Motor stereotypy, Aggressive behavior	OMIM:239500
Orofaciodigital Syndrome Viii	Polydactyly, High palate, Short stature, Cleft palate, Syndactyly, Short tibia, Median cleft uppe...	OMIM:300484
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, High palate, Short stature, Camptodactyly of f...	ORPHA:376
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Craniofacial Microsomia 2	Submucous cleft palate, Bifid uvula	OMIM:620444
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity	ORPHA:436151
Hydrolethalus	Gingival cleft, Bifid uvula, Unilateral cleft lip, Cleft palate, Submucous cleft hard palate	ORPHA:2189
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618709
Vertebral Hypersegmentation And Orofacial Anomalies	Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate	OMIM:619122
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Cree Mental Retardation Syndrome	Cleft soft palate	OMIM:606851
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Orofacial cleft, Cleft palate, Non-midline cleft of the upper lip	OMIM:141400
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620065
Keratoconus Posticus Circumscriptus	Cleft upper lip, Cleft palate	OMIM:244600
3Mc Syndrome 3	Tessier cleft, Preaxial polydactyly, Short stature, Cleft upper lip, Growth delay, Cleft palate, ...	OMIM:248340
Supernumerary Nostril	Tessier cleft	ORPHA:141096
Autism, Susceptibility To, 3	Inflexible adherence to routines, Restrictive behavior, Motor stereotypy	OMIM:608049
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft of the upper lip, Ectopic anus, Cleft palate	ORPHA:2476
Weyers Ulnar Ray/Oligodactyly Syndrome	Solitary median maxillary central incisor, High palate, Cleft upper lip, Micrognathia, Cleft palate	OMIM:602418
Chromosome 15Q14 Deletion Syndrome	Short philtrum, Everted lower lip vermilion, Cleft palate, Tented upper lip vermilion, Cleft lip	OMIM:616898
Multiple Self-Healing Squamous Epithelioma, Susceptibility To	Bifid uvula	OMIM:132800
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Polydactyly, Postaxial, Type A8	Short stature, Genu valgum, Postaxial polydactyly	OMIM:618123
Chromosome 22Q11.2 Duplication Syndrome	Velopharyngeal insufficiency, High palate	OMIM:608363
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy	OMIM:172700
Developmental And Epileptic Encephalopathy 104	Hyperactivity, Self-injurious behavior, Agitation	OMIM:619970
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
Frontonasal Dysplasia 3	Tessier cleft, Cleft palate	OMIM:613456
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Cleft palate	OMIM:214300
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Oculofaciocardiodental Syndrome	Abnormal palate morphology, Solitary median maxillary central incisor, Tooth malposition, Delayed...	ORPHA:2712
Isolated Congenital Hypoglossia/Aglossia	Temporomandibular joint ankylosis, Micrognathia, Cleft palate, Microglossia	ORPHA:141152
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia...	ORPHA:1647
Zechi-Ceide Syndrome	Cleft upper lip, Oligodontia, Cleft palate, Malar flattening	OMIM:612916
Constricting Bands, Congenital	Tessier cleft, Encephalocele, Cleft upper lip, Hand polydactyly, Cleft palate, Syndactyly, Talipe...	OMIM:217100
Orofaciodigital Syndrome Iv	Short finger, Short tibia, High palate, Short stature, Foot polydactyly, Clinodactyly, Cleft pala...	OMIM:258860
Mosaic Trisomy 9	Tessier cleft, Rocker bottom foot, Finger clinodactyly, Deep palmar crease, Hydrops fetalis, Poly...	ORPHA:99776
Schilbach-Rott Syndrome	Submucous cleft hard palate, Bifid uvula, Narrow mouth	OMIM:164220
Auriculocondylar Syndrome 4	Narrow mouth, Micrognathia, Cleft palate, Glossoptosis	OMIM:620457
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Bifid uvula, Cleft palate	ORPHA:506353
Split-Foot Deformity With Mandibulofacial Dysostosis	Micrognathia, Cleft palate, Malar flattening	OMIM:183700
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Cleft palate	OMIM:612370
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome...	ORPHA:85445
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Cleft palate, Thick vermilion border	ORPHA:250999
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Clinodactyly	OMIM:615984
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, High palate, Protruding tongue, Wide mouth, Thick vermilion border, Submucous cl...	OMIM:618106
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Compulsive behaviors, Inflexible adherence to routines, Motor stereotypy, Attention deficit hyper...	OMIM:613670
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Branchiogenic-Deafness Syndrome	Submucous cleft hard palate	OMIM:609166
Buratti-Harel Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, Bifid uvula, High palate	OMIM:619314
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Lowry-Maclean Syndrome	Cleft palate, Delayed eruption of teeth	OMIM:600252
Jawad Syndrome	Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy...	OMIM:251255
Charlie M Syndrome	Thin vermilion border, Short philtrum, Non-midline cleft of the upper lip, Narrow mouth, Tooth ag...	ORPHA:1406
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Smooth philtrum, Short philtrum	ORPHA:293725
Burn-Mckeown Syndrome	Thin vermilion border, Short philtrum, Mandibular prognathia, Narrow mouth, Cleft upper lip, Micr...	OMIM:608572
Orofaciodigital Syndrome Type 10	Long philtrum, Accessory oral frenulum, Cleft soft palate	ORPHA:2756
W Syndrome	Broad uvula, Submucous cleft hard palate, Upper lip pit, Agenesis of maxillary central incisor	ORPHA:2804
Catifa Syndrome	Delayed eruption of teeth, Tooth malposition, Increased overbite, Cleft palate, Long philtrum, Cl...	OMIM:618761
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,...	ORPHA:1071
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys	OMIM:613885
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, Cleft palate, High palate	OMIM:609654
Nemaline Myopathy 9	Micrognathia, Cleft palate, High palate	OMIM:615731
Acropectorovertebral Dysplasia	High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car...	ORPHA:957
Focal Facial Dermal Dysplasia Type Iv	Cleft upper lip, Cleft palate	ORPHA:398189
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate	ORPHA:93316
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Pai Syndrome	Abnormal oral frenulum morphology, Cleft palate, Median cleft upper lip, Bifid uvula	ORPHA:1993
Unilateral Ocular Duplication	Polyhydramnios, Encephalocele, Midline facial cleft, Cleft palate, Median cleft upper lip	ORPHA:3374
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Neuralgic Amyotrophy	Bifid uvula, Narrow mouth, Cleft palate	ORPHA:2901
Aarskog-Scott Syndrome	Orofacial cleft, Delayed eruption of teeth, Abnormality of the dentition, Everted lower lip vermi...	ORPHA:915
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Inappropriate laughter, Bruxism, Motor stereotypy, Aggressive behavior	OMIM:619150
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip	OMIM:616994
Carey-Fineman-Ziter Syndrome 2	High, narrow palate, Increased overbite, Dental crowding, Downturned corners of mouth, Velopharyn...	OMIM:619941
Intellectual Disability, Wolff Type	Orofacial cleft, Thick lower lip vermilion, Non-midline cleft of the upper lip, Abnormal intestin...	ORPHA:3080
Heart-Hand Syndrome Type 2	Abnormal palate morphology, Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder mor...	ORPHA:1350
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin vermilion border, Intestinal malrotation, Velopharyngeal insufficiency, Cleft palate, Enamel...	OMIM:614701
Frontofacionasal Dysplasia	Tessier cleft, Encephalocele, Non-midline cleft of the upper lip, Short stature, Cleft palate	ORPHA:1791
Arthrogryposis, Distal, Type 3	Submucous cleft hard palate, Bifid uvula, High palate, Cleft palate	OMIM:114300
Loeys-Dietz Syndrome 5	Cleft soft palate, High palate, Eosinophilic infiltration of the esophagus, Bifid uvula, Cleft pa...	OMIM:615582
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short long bone, Flat acetabular roof, Ascites, Microdontia, Mesomelia, Syndactyly, Short distal ...	OMIM:614091
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Downturned corners of mouth, Smooth philtrum, Short philtrum	OMIM:613192
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Orofacial cleft, Intestinal malrotation, Incomplete cleft of the upper lip, Micrognathia, Deep ph...	ORPHA:77300
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Motor stereotypy, Aggressive behavior	OMIM:619470
16P11.2P12.2 Microduplication Syndrome	Cleft palate	ORPHA:261204
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Cleft palate	OMIM:612913
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:617113
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Dysphagia, Motor stereotypy	OMIM:617862
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Abnormal hip bone morphology, Abnormal met...	ORPHA:2631
N-Acetylaspartate Deficiency	Self-mutilation, Motor stereotypy	OMIM:614063
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Unilateral cleft palate, Wide mouth, Unilateral cleft lip, Submucous c...	OMIM:619103
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Cleft upper lip, Bifid uvula, Cleft palate	OMIM:300958
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip vermilion, High palate, E...	OMIM:608670
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Meckel Syndrome, Type 11	Polydactyly, Occipital encephalocele, Oligohydramnios	OMIM:615397
Holoprosencephaly 4	Median cleft upper lip, Median cleft palate	OMIM:142946
8Q22.1 Microdeletion Syndrome	Long philtrum, Submucous cleft hard palate, Abnormality of the dentition	ORPHA:178303
Diamond-Blackfan Anemia 6	Retrognathia, Cleft upper lip, Micrognathia, Bifid uvula, Cleft palate	OMIM:612561
Meckel Syndrome, Type 5	Cleft upper lip, Cleft palate	OMIM:611561
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Micrognathia, Cleft palate, Malar flattening, Long philtrum	ORPHA:166100
2Q24 Microdeletion Syndrome	Short philtrum, Abnormal oral frenulum morphology, Bullet-shaped distal phalanx of the hallux, Gr...	ORPHA:1617
Developmental And Epileptic Encephalopathy 58	Motor stereotypy	OMIM:617830
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Cleft pa...	OMIM:614815
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Motor stereotypy	OMIM:613886
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Short hard palate, Glossoptosis, High palate, Carious teeth, Cl...	OMIM:117650
Aase-Smith Syndrome	Abnormal hip bone morphology, Slender finger, Camptodactyly of finger, Cleft palate, Aplasia/Hypo...	ORPHA:916
Developmental And Epileptic Encephalopathy 30	Motor stereotypy	OMIM:616341
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft upper lip, Micrognathia, Cleft palate	OMIM:601076
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Disinhibition, Dysphagia, Motor stereotypy	OMIM:612069
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, High palate, Smooth philtrum, Long philtrum, Submucous cleft hard palate, An...	OMIM:612863
Idiopathic Hypercalciuria	Osteopenia, Calcium oxalate nephrolithiasis, Hypercalciuria, Osteoporosis, Renal calcium wasting	ORPHA:2197
Bamforth-Lazarus Syndrome	Cleft palate	OMIM:241850
Splenogonadal Fusion With Limb Defects And Micrognathia	Stillbirth, Crowded maxillary incisors, Multiple unerupted teeth	OMIM:183300
Diaphanospondylodysostosis	Absent in utero rib ossification, Enlarged kidney, Tracheomalacia, Nephroblastomatosis, Absent in...	OMIM:608022
Morm Syndrome	Hyperactivity, Aggressive behavior	ORPHA:75858
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Motor stereotypy	OMIM:615282
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft upper lip, Cleft palate	OMIM:244200
Auriculocondylar Syndrome 2A	Short mandibular rami, Dental crowding, Mandibular condyle hypoplasia, Temporomandibular joint an...	OMIM:614669
Glycine Encephalopathy 1	Hyperactivity, Restlessness, Impulsivity, Aggressive behavior	OMIM:605899
Familial Hyperprolactinemia	Osteopenia, Hemorrhagic ovarian cyst, Osteoporosis, Female hypogonadism	ORPHA:397685
Orofaciodigital Syndrome Xvii	Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Short stature...	OMIM:617926
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Micrognathia, Cleft palate	ORPHA:1779
Marbach-Schaaf Neurodevelopmental Syndrome	Downturned corners of mouth, Submucous cleft hard palate, Thin upper lip vermilion	OMIM:619680
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior	OMIM:301107
Stickler Syndrome, Type I	Submucous cleft hard palate, Bifid uvula, Pierre-Robin sequence, Cleft palate	OMIM:108300
Acropectoral Syndrome	Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx	OMIM:605967
Meckel Syndrome, Type 2	Polydactyly, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the l...	OMIM:603194
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Abnormal palate morphology, Bilateral single transverse palmar creases, Broad thum...	ORPHA:1236
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat...	OMIM:263200
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Motor stereotypy, Aggressive behavior	OMIM:615541
Orofaciodigital Syndrome Type 2	Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Abno...	ORPHA:2751
Phenobarbital Embryopathy	Unilateral cleft lip	ORPHA:1919
Mycophenolate Mofetil Embryopathy	Tessier cleft, Orofacial cleft, Hydrops fetalis, Tracheoesophageal fistula, Foot polydactyly, Sho...	ORPHA:268249
Limb-Mammary Syndrome	Cleft hard palate, Bifid uvula, Submucous cleft soft palate, Cleft palate, Hypodontia, Cleft lip	ORPHA:69085
Bardet-Biedl Syndrome 4	Polydactyly, Brachydactyly, Abnormality of the dentition, Syndactyly	OMIM:615982
Native American Myopathy	High palate, Downturned corners of mouth, Bifid uvula, Cleft palate, Submucous cleft soft palate	ORPHA:168572
Satb2-Associated Syndrome Due To A Pathogenic Variant	High palate, Abnormality of the dentition, Celiac disease, Cleft palate, Bifid uvula, Smooth phil...	ORPHA:576283
Kleefstra Syndrome 2	Bifid uvula, Everted lower lip vermilion	OMIM:617768
Dystonia-Deafness Syndrome 1	Cleft upper lip, Cleft palate	OMIM:607371
Chromosome 22Q11.2 Deletion Syndrome, Distal	Cleft palate, Thin upper lip vermilion, Smooth philtrum, Malar flattening	OMIM:611867
Split-Hand/Foot Malformation 3	High palate, Narrow mouth, Hypoplasia of the maxilla, Cleft palate, Microretrognathia	OMIM:246560
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Delayed pubic bone ossific...	ORPHA:1856
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Delayed eruption of teeth, Bifid uvula, Cleft palate, Submucous cleft hard p...	ORPHA:2780
Frontonasal Dysplasia 1	Median cleft palate, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Median cleft upper l...	OMIM:136760
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of laughter	OMIM:618718
Intellectual Developmental Disorder, Autosomal Dominant 73	Widely spaced teeth, Thick lower lip vermilion, Cleft soft palate, Increased overbite, Short phil...	OMIM:620450
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Short philtrum, Ectopic anus, Mandibular prognathia, Downturned corners of mouth, Cleft palate, M...	ORPHA:94066
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Motor stereotypy	OMIM:617820
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics	OMIM:619927
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Microdontia, Cleft upper lip, Micrognathia, Anodontia, Cleft palate,...	OMIM:225060
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Motor stereotypy, Aggressive behavior	OMIM:609425
Bartsocas-Papas Syndrome 1	Tessier cleft, Anal stenosis, Absent radius, Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, ...	OMIM:263650
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Postnatal growth retardation, Polydactyly, Clinodactyly of the 5th finger, Dental crowding, High ...	ORPHA:231140
Lymphatic Malformation 8	Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis	OMIM:618773
Acrorenal Syndrome	Abnormal tibia morphology, Split hand, Abnormal morphology of ulna, Cleft palate, Aplasia/Hypopla...	ORPHA:971
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Disinhibition, Motor stereotypy, Restlessness, Aggressive behavior	OMIM:600795
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Submucous cleft soft palate, Cleft soft palate	ORPHA:2282
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Bifid uvula	OMIM:617660
Juberg-Hayward Syndrome	Cleft upper lip, Anteriorly placed anus	OMIM:216100
Microphthalmia, Syndromic 12	Intestinal malrotation, Cleft palate, Neonatal death	OMIM:615524
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Everted lower lip vermilion, Death in infancy	OMIM:242500
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Maternal Uniparental Disomy Of Chromosome 6	Cleft upper lip, Miscarriage, Cleft palate	ORPHA:96181
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ...	OMIM:147891
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ...	OMIM:617102
Aminopterin Syndrome Sine Aminopterin	Oligodontia, High palate, Short stature, Arachnodactyly, Rudimentary postaxial polydactyly of han...	OMIM:600325
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Behavioral Variant Of Frontotemporal Dementia	Inappropriate behavior, Restrictive behavior, Collectionism, Disinhibition, Restlessness, Motor s...	ORPHA:275864
Autosomal Recessive Amelia	Orofacial cleft, Non-midline cleft of the upper lip	ORPHA:1027
Double Outlet Right Ventricle	Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth	ORPHA:3426
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Cleft lip, Cleft palate	OMIM:300263
Orofaciodigital Syndrome Ix	High palate, Abnormality of the dentition, Cleft palate, Accessory oral frenulum, Median cleft up...	OMIM:258865
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, High palate, Abnormality of the humeru...	ORPHA:3098
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Abnormal parotid gland morphology	OMIM:154500
Carpenter Syndrome	Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,...	ORPHA:65759
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Pallister-Hall-Like Syndrome	Death in infancy, Cleft palate, Median cleft upper lip, Microglossia	OMIM:241800
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Widely spaced teeth, Cleft soft palate, Short philtrum, Ankyloglossia, Micro...	OMIM:619950
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Delayed eruption of teeth, Dental crowding, Narrow mouth, Bifid uvula, Submuco...	OMIM:300990
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Pierre-Robin sequence, Cleft palate, Malar flattening	OMIM:184840
Fetal Akinesia Deformation Sequence 2	Micrognathia, Cleft palate, High palate, Tented upper lip vermilion	OMIM:618388
Coloboma Of Macula And Skeletal Anomalies	Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger, Cleft palate, Hal...	OMIM:216800
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Hydrops fetalis, Polyhydramnios, Disproportionate short-limb short st...	ORPHA:85166
Short Stature, Developmental Delay, And Congenital Heart Defects	Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st...	OMIM:617044
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome	Torus palatinus	ORPHA:2536
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cleft upper lip, Cleft palate, Tooth agenesis	OMIM:147950
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity	OMIM:300928
Otopalatodigital Syndrome Type 1	Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor...	ORPHA:90650
Silver-Russell Syndrome Due To A Point Mutation	Postnatal growth retardation, Polydactyly, Small placenta, Clinodactyly of the 5th finger, Ectrod...	ORPHA:397590
Hyperparathyroidism, Transient Neonatal	Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Fractured r...	OMIM:618188
Rudiger Syndrome	Bicornuate uterus, Ovarian cyst, Flexion contracture, Ureterovesical stenosis, Micropenis	OMIM:268650
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp...	OMIM:614078
Meier-Gorlin Syndrome 5	Long philtrum, Submucous cleft hard palate, Thick vermilion border	OMIM:613805
Myhre Syndrome	Thin vermilion border, Gingival cleft, Narrow mouth, Bifid uvula, Unilateral cleft lip, Cleft pal...	ORPHA:2588
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Zimmermann-Laband Syndrome 3	Gingival overgrowth, Bifid uvula, High palate, Thick lower lip vermilion	OMIM:618658
Richieri-Costa/Guion-Almeida Syndrome	Cleft upper lip, Mandibular prognathia, Cleft palate, Malar flattening	OMIM:268850
Hartsfield Syndrome	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2117
Rhizomelic Chondrodysplasia Punctata, Type 2	Submucous cleft hard palate, High palate	OMIM:222765
Chromosome 1Q41-Q42 Deletion Syndrome	Widely spaced teeth, Short philtrum, High palate, Cleft upper lip, Cleft palate, Tented upper lip...	OMIM:612530
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Postaxial hand polydactyly, Cleft palate, Postaxial foot po...	OMIM:607361
Hyperparathyroidism 4	Osteopenia, Parathyroid carcinoma, Nephrolithiasis, Primary hyperparathyroidism	OMIM:617343
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Joint hypermobility, Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Tetrasomy 12P	Delayed eruption of teeth, Abnormal soft palate morphology, Everted lower lip vermilion, Anal atr...	ORPHA:884
Blepharocheilodontic Syndrome 1	Hypodontia, Cleft upper lip, Anal atresia, Conical tooth	OMIM:119580
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cleft palate, Median cleft upper lip	ORPHA:2165
Bamforth-Lazarus Syndrome	Retrognathia, Cleft palate	ORPHA:1226
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232200
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of...	OMIM:300244
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Cleft palate, Submucous c...	ORPHA:2250
Limb-Mammary Syndrome	Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ...	OMIM:603543
Distal Deletion 10P	Non-midline cleft of the upper lip, Ectopic anus, Anal atresia, Micrognathia, Cleft palate	ORPHA:1580
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618906
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232220
Microtia, Hearing Impairment, And Cleft Palate	Cleft palate	OMIM:612290
Treacher Collins Syndrome 4	Micrognathia, Cleft palate, Malar flattening	OMIM:618939
Blepharonasofacial Malformation Syndrome	Long philtrum, Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1252
Abruzzo-Erickson Syndrome	Cleft palate	OMIM:302905
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Long phi...	OMIM:200990
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Submucous cleft hard palate, Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia	OMIM:619227
Orofaciodigital Syndrome Ii	Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Postaxial hand pol...	OMIM:252100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Short philtrum, Mandibular prognathia, Abnormal rectum morphology, Cleft u...	OMIM:239300
Schisis Association	Cleft palate, Tracheoesophageal fistula, Unilateral cleft lip, Anal atresia	ORPHA:63862
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, High palate, Everted lower lip vermilion, Microdontia, Cleft palate, T...	OMIM:619736
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft of the upper lip, Bilateral cleft palate, Tooth agenesis	ORPHA:2003
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Triangular mouth, Lymphedema, Epiphyseal dysplasia, Clinodactyly, Flatt...	OMIM:607131
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	High palate, Pyloric stenosis, Long philtrum, Submucous cleft hard palate, Thin upper lip vermilion	ORPHA:457279
Walker-Warburg Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:899
Treacher-Collins Syndrome	Tessier cleft, Rectovaginal fistula, Encephalocele, Abnormal dental enamel morphology, Open bite,...	ORPHA:861
Distal Monosomy 7Q36	Non-midline cleft of the upper lip, Micrognathia, Cleft palate, Wide mouth	ORPHA:1636
Mullegama-Klein-Martinez Syndrome	Short philtrum, Submucous cleft of soft and hard palate, Bifid uvula, Cleft palate, Smooth philtr...	OMIM:301022
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,...	OMIM:605282
Tetraamelia Syndrome 2	Glossoptosis, Ankyloglossia, Micrognathia, Cleft palate, Microretrognathia, Bilateral cleft lip	OMIM:618021
Say Syndrome	Ulnar deviation of the 3rd finger, Short stature, Cleft palate, Short distal phalanx of finger, T...	OMIM:181180
Isolated Dandy-Walker Malformation	Cleft palate	ORPHA:217
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulonephritis, Cr...	ORPHA:251004
Hydrolethalus Syndrome 2	Anencephaly, Postaxial hand polydactyly, Cleft palate, Preaxial foot polydactyly, Postaxial foot ...	OMIM:614120
Smith-Magenis Syndrome	Short philtrum, Mandibular prognathia, Cleft upper lip, Micrognathia, Cleft palate, Tented upper ...	ORPHA:819
Microphthalmia With Limb Anomalies	Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypoplasia, 2-3 to...	OMIM:206920
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Thin vermilion border, Short philtrum, Mandibular prognathia, Bilateral cleft lip, Bifid uvula, T...	OMIM:618622
Holoprosencephaly 11	Cleft lip, Cleft palate	OMIM:614226
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral cleft palate, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal...	ORPHA:3253
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Cleft upper lip, Cleft palate, Tented upper lip vermilion, Thin upper lip vermilion	OMIM:600987
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Camptodactyly, Postaxial polyda...	OMIM:614175
Rapp-Hodgkin Syndrome	Conical tooth, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Carious teeth, Enamel hypopl...	OMIM:129400
Naxos Disease	Cleft upper lip	ORPHA:34217
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac...	OMIM:620141
Auriculocondylar Syndrome 3	Bifid uvula, Glossoptosis	OMIM:615706
Nager Syndrome	Abnormal palate morphology, Non-midline cleft of the upper lip, Hypoplasia of the maxilla, Microg...	ORPHA:245
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Cleft palate, Pierre-Robin sequence, Open mouth, Submucous cleft ha...	OMIM:192430
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Gingival overgrowth, Abnormality of th...	OMIM:169400
Multiple Epiphyseal Dysplasia Type 4	Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of the proxim...	ORPHA:93307
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Femoral bowing, Short long bone, Absent tibia, Intestinal malrotation, Cone-shaped epiphysis, Hyp...	OMIM:613091
Maxillonasal Dysplasia	Mandibular prognathia, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxilla, Cleft p...	ORPHA:1248
Trisomy 8Q	Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Ab...	ORPHA:1752
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency...	ORPHA:199302
Bartsocas-Papas Syndrome 2	Bilateral cleft palate, Accessory oral frenulum, Micrognathia, Bilateral cleft lip	OMIM:619339
Multiple Pterygium Syndrome, X-Linked	Cleft upper lip, Micrognathia, Cleft palate	OMIM:312150
Waardenburg Syndrome Type 1	Aganglionic megacolon, Mandibular prognathia, Cleft upper lip, Cleft palate, Tented upper lip ver...	ORPHA:894
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior	OMIM:615516
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
White Sponge Nevus 2	Edema	OMIM:615785
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Motor stereotypy	OMIM:619690
Culler-Jones Syndrome	Cleft upper lip, Cleft palate	OMIM:615849
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele	OMIM:213010
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Encephalocele, Talipes equinovarus, Midline facial cleft, Cleft upper lip, M...	OMIM:603671
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Disproportionate shor...	OMIM:184250
Desmosterolosis	Narrow mouth, Intestinal malrotation, Bifid uvula, Cleft palate, Submucous cleft hard palate	ORPHA:35107
Bartsocas-Papas Syndrome	Micrognathia, Cleft palate, Narrow mouth, Median cleft upper lip	ORPHA:1234
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Holoprosencephaly 13, X-Linked	Solitary median maxillary central incisor, Median cleft palate, Cleft palate, Submucous cleft har...	OMIM:301043
Orofaciodigital Syndrome V	Aganglionic megacolon, High palate, Ankyloglossia, Bifid uvula, Lobulated tongue, Cleft palate, H...	OMIM:174300
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele...	ORPHA:93322
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Treacher Collins Syndrome 3	Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening	OMIM:248390
Postaxial Acrofacial Dysostosis	Non-midline cleft of the upper lip, Micrognathia, Cleft palate, Malar flattening	ORPHA:246
Lymphatic Malformation 5	Cleft palate	OMIM:153200
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Downturned corners of mouth, Smooth philtrum, Cleft soft palate	OMIM:619321
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior	ORPHA:101039
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Cleft upper lip, Abnormality of the dentition	OMIM:273400
Primary Dystonia, Dyt13 Type	Motor stereotypy	ORPHA:98807
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Cleft palate, Brachyd...	ORPHA:306542
Neu-Laxova Syndrome	Abnormality of the philtrum, Everted lower lip vermilion, Cleft palate, Bifid uvula, Thick vermil...	ORPHA:2671
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,...	OMIM:277170
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho...	ORPHA:2378
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Micromelia, Short stature, Cleft palate, Brachydactyly, Intrauteri...	ORPHA:2145
Verloove Vanhorick-Brubakk Syndrome	Non-midline cleft of the upper lip, Micrognathia, Cleft palate	ORPHA:3429
Galloway-Mowat Syndrome 7	Cubitus valgus, Hallux valgus, Single transverse palmar crease, High palate, Cleft lip, Short sta...	OMIM:618348
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Meckel diverticulum, Single tra...	OMIM:311900
Hardikar Syndrome	Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilateral cleft pala...	OMIM:301068
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod...	ORPHA:158687
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel...	OMIM:619827
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Aggressive behavior	OMIM:301029
Fetal Alcohol Syndrome	Non-midline cleft of the upper lip, Microdontia, Micrognathia, Cleft palate, Smooth philtrum, Thi...	ORPHA:1915
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
H Syndrome	Abnormality of the kidney, Enlarged kidney, Azoospermia, Camptodactyly, Decreased testicular size...	ORPHA:168569
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath...	OMIM:616367
Bardet-Biedl Syndrome 16	Short stature, Polydactyly	OMIM:615993
Stickler Syndrome Type 2	Cleft palate	ORPHA:90654
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Micrognathia, Pierre-Robin sequence, Cleft palate	OMIM:602196
Stickler Syndrome, Type Ii	High, narrow palate, Pierre-Robin sequence, Bifid uvula, Cleft palate	OMIM:604841
Endosteal Hyperostosis, Worth Type	Torus palatinus	ORPHA:2790
Opitz Gbbb Syndrome	Rectourethral fistula, Solitary median maxillary central incisor, High palate, Anal atresia, Clef...	OMIM:300000
Orofaciodigital Syndrome Type 4	Orofacial cleft, High, narrow palate, Short philtrum, Rectovaginal fistula, Perineal fistula, Ana...	ORPHA:2753
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Compulsive behaviors, Stereotypical hand wringing, Motor stereotypy	OMIM:618917
Glycosylphosphatidylinositol Biosynthesis Defect 11	Macroglossia, High palate, Tented upper lip vermilion	OMIM:616025
Auriculocondylar Syndrome 1	Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na...	OMIM:602483
Hamel Cerebro-Palato-Cardiac Syndrome	Micrognathia, Cleft palate, Narrow mouth, Malar flattening	ORPHA:93946
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Abnormal metaphysis morphology, Hydrops fetalis, Esophageal atresia, Disproportion...	ORPHA:93271
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate	OMIM:614557
Solitary Median Maxillary Central Incisor	Cleft upper lip, Prominent median palatal raphe, Solitary median maxillary central incisor, Torus...	OMIM:147250
Facial Paresis, Hereditary Congenital, 3	Short philtrum, High palate, Downturned corners of mouth, Micrognathia, Tented upper lip vermilio...	OMIM:614744
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic...	OMIM:608836
Chromosome 6Pter-P24 Deletion Syndrome	Dental crowding, Narrow mouth, High palate, Anal atresia, Abnormal dental morphology, Cleft upper...	OMIM:612582
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Orofacial cleft, Non-midline cleft of the upper lip, Ectopic anus, Cleft p...	ORPHA:2549
3P25.3 Microdeletion Syndrome	High, narrow palate, Proximal placement of thumb, Short philtrum, Tapered finger, Pyloric stenosi...	ORPHA:435638
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Renal phosphate wasting, Nephrolithiasis, Osteoporosis, Hyperphosphaturia, Increased ...	OMIM:612287
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Narrow mouth, Everted lower lip vermilion, Downturned corners of mouth, Cleft palate, Bifid uvula...	OMIM:618089
Braddock-Carey Syndrome 2	Retrognathia, Pierre-Robin sequence, Wide mouth, Cleft palate	OMIM:619981
Frontonasal Dysplasia 2	Widely spaced teeth, Encephalocele, Conical tooth, Tessier number 13 facial cleft, Broad philtrum...	OMIM:613451
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis,...	OMIM:617303
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Neonatal death, Oral mucosal blisters, Congenital pyloric atresia	OMIM:619817
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Branchioskeletogenital Syndrome	Thin vermilion border, Short philtrum, Rootless teeth, Premature loss of teeth, Abnormal dentin m...	ORPHA:1299
Kaposiform Lymphangiomatosis	Enlarged kidney, Fractures of the long bones, Hepatosplenomegaly, Splenomegaly, Multiple renal cy...	ORPHA:464329
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Renal cyst	OMIM:109130
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Cleft palate, High palate, Tooth agenesis	ORPHA:1135
Baraitser-Winter Syndrome 1	Orofacial cleft, Retrognathia, Cleft upper lip, Wide mouth, Long philtrum, Thin upper lip vermilion	OMIM:243310
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Cleft palate, Me...	ORPHA:440354
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Craniosynostosis, Pancreatic fibrosis, Cystic renal dysplasia	OMIM:200995
Trisomy 9P	Dental crowding, Downturned corners of mouth, Non-midline cleft of the upper lip, Impacted tooth	ORPHA:236
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Short middle phalanx of the 4th finger, Limited pronation/supination of forearm,...	OMIM:616738
Aarskog-Scott Syndrome	Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Curved linear dimple below the lower li...	OMIM:305400
Cardiofaciocutaneous Syndrome 1	Open bite, High palate, Abnormality of the dentition, Submucous cleft hard palate, Thick vermilio...	OMIM:115150
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned co...	OMIM:615761
Myopathy, Centronuclear, 5	Narrow mouth, Bifid uvula, High palate	OMIM:615959
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hepatomegaly, Hyperechogenic pancreas, Polycystic kidney dysplasia, Pancreatic c...	OMIM:208540
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, High palate, Bilateral talipes equinovarus, Postaxial polydactyly, Intraute...	OMIM:618142
Holzgreve Syndrome	Abnormal metacarpal morphology, Hand polydactyly, Cleft palate, Abnormal morphology of ulna, Intr...	ORPHA:2167
Acrofrontofacionasal Dysostosis	Non-midline cleft of the upper lip, Cleft palate, High palate, Everted lower lip vermilion	ORPHA:1784
Trisomy 13	High, narrow palate, Abnormality of the dentition, Cleft palate, Malar flattening, Long philtrum,...	ORPHA:3378
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Osteoporosis, Hyperphosphat...	OMIM:612286
Chromosome 3Pter-P25 Deletion Syndrome	Postnatal growth retardation, Thin vermilion border, High palate, Intrauterine growth retardation...	OMIM:613792
Recombinant 8 Syndrome	Gingival overgrowth, Abnormality of the dentition, Abnormal oral frenulum morphology, Cleft upper...	ORPHA:96167
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax...	OMIM:615986
Achondrogenesis, Type Ii	Short tubular bones of the hand, Hydrops fetalis, Polyhydramnios, Disproportionate short-limb sho...	OMIM:200610
Diamond-Blackfan Anemia	Cleft lip, High palate, Cleft soft palate, Adenocarcinoma of the colon	ORPHA:124
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bilateral cleft palate, High palate, Ankyloglossia, Enamel hypoplasia, Malar flattening, Bilatera...	OMIM:618874
Orofaciodigital Syndrome X	Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescence of tarsal b...	OMIM:165590
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia	OMIM:615415
Atelosteogenesis Type Ii	Sandal gap, Bilateral cleft palate, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, L...	ORPHA:56304
16P13.11 Microdeletion Syndrome	Exaggerated cupid's bow, Cleft upper lip, Cleft palate, Wide mouth, Smooth philtrum, Thin upper l...	ORPHA:261236
Otospondylomegaepiphyseal Dysplasia	Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Polyhydramn...	ORPHA:1427
Schneckenbecken Dysplasia	Metaphyseal irregularity, Polyhydramnios, Disproportionate short-limb short stature, Snail-like i...	OMIM:269250
Atelosteogenesis, Type Iii	Widened distal phalanges, Rhizomelia, Tombstone-shaped proximal phalanges, Sandal gap, Hitchhiker...	OMIM:108721
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Fryns Syndrome	Aganglionic megacolon, Non-midline cleft of the upper lip, Ectopic anus, High palate, Anal atresi...	ORPHA:2059
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Dent...	OMIM:170390
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney, Ovarian serous cystadenoma, Hydrocele testis	ORPHA:276280
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Polydactyly, Short long bone, Brachydactyly	OMIM:613819
Cardioacrofacial Dysplasia 1	Genu valgum, Short philtrum, Conical tooth, Postaxial polydactyly, Limb undergrowth, Accessory or...	OMIM:619142
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, High, narrow palate, Oligodontia, Micrognathia, Unilateral cleft lip, Malar ...	ORPHA:1787
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Polyhydramnios, Short long bone, Brachydactyly	OMIM:615633
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior	OMIM:620292
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph...	OMIM:130650
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Osteopor...	ORPHA:79259
Biemond Syndrome Type 2	Delayed puberty, Preaxial polydactyly, Short stature	ORPHA:141333
Desbuquois Dysplasia 2	Dental crowding, Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Bifid uvul...	OMIM:615777
17Q12 Microduplication Syndrome	Polyhydramnios, Finger syndactyly, Tracheoesophageal fistula, Cleft palate, Toe syndactyly	ORPHA:261272
Orofacial Cleft 15	Palate fistula, Bilateral cleft palate, Agenesis of lateral incisor, Bilateral cleft lip	OMIM:616788
Emanuel Syndrome	Broad jaw, Tooth malposition, Delayed eruption of teeth, Dental crowding, Ectopic anus, High pala...	ORPHA:96170
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin lower lip vermilion, Microdontia, Deep philtrum, Wide mouth, Submucous cleft hard palate, Ma...	OMIM:619194
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia	OMIM:616910
Dubowitz Syndrome	Delayed eruption of teeth, High palate, Carious teeth, Velopharyngeal insufficiency, Thick vermil...	OMIM:223370
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Widely spaced teeth, Conical tooth, Selective tooth agenesis, Hypoplasia of the maxilla, Cleft up...	OMIM:106260
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Bardet-Biedl Syndrome 22	Polydactyly, Postaxial foot polydactyly	OMIM:617119
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Self-injurious behavior, Aggressive behavior	ORPHA:382
Postaxial Acrofacial Dysostosis	Conical tooth, Midgut malrotation, Pyloric stenosis, Cleft upper lip, Micrognathia, Cleft palate,...	OMIM:263750
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Widely spaced teeth, Short philtrum, Dental crowding, Narrow mouth, Wide mou...	OMIM:300967
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Branchio-Oculo-Facial Syndrome	Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Mi...	ORPHA:1297
Suleiman-El-Hattab Syndrome	Polydactyly, Thick lower lip vermilion, Single transverse palmar crease, High palate, Downturned ...	OMIM:618950
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Abnormal alveolar ridge morphology, Cleft upper lip, Natal tooth, Hypo...	OMIM:225500
Ear-Patella-Short Stature Syndrome	High, narrow palate, Narrow mouth, Bifid uvula, Cleft palate, Thick vermilion border, Submucous c...	ORPHA:2554
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Motor stereotypy	OMIM:617393
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Compulsive behaviors, Repetitive compulsive behavior, Motor stereotypy, Attention ...	ORPHA:352490
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Tarsal synostosis, Abnormality of the wrist, Cleft palate, Oligodontia of primary teeth, Carpal s...	ORPHA:2010
Acrofrontofacionasal Dysostosis 1	Oligodontia, Mandibular prognathia, Cleft upper lip, Cleft palate, Wide mouth, Malar flattening	OMIM:201180
Nabais Sa-De Vries Syndrome, Type 2	Thin vermilion border, Bilateral cleft palate, High palate, Micrognathia, Bilateral cleft lip	OMIM:618829
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Aplasia of the ovary, Endom...	ORPHA:3109
Lopes-Maciel-Rodan Syndrome	Agitation, Bruxism, Dysphagia, Motor stereotypy	OMIM:617435
Arthrogryposis And Ectodermal Dysplasia	Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Cleft upper lip, Cleft palate	OMIM:601701
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, 2-3 toe syndactyly, Abnormal oral frenulum morphology, Intestinal...	ORPHA:404440
Triploidy	Non-midline cleft of the upper lip, Narrow mouth, Intestinal malrotation, Micrognathia, Cleft pal...	ORPHA:3376
Ivic Syndrome	Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ...	OMIM:147750
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft of the upper lip, Abnormality of the philtrum, Cleft palate	ORPHA:1770
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Hepatomega...	OMIM:276700
Fraser Syndrome 1	Tessier cleft, Encephalocele, Aplasia/Hypoplasia of the thumb, Dental crowding, Myelomeningocele,...	OMIM:219000
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Cleft soft palate	ORPHA:268261
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Cleft lip, Cleft palate	OMIM:614838
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Finger clinodactyly, Mesoaxial polydactyly, High palate, Central Y-shaped m...	ORPHA:2754
Bohring-Opitz Syndrome	Narrow palate, Retrognathia, Broad alveolar ridges, Bilateral cleft palate, Narrow mouth, Unilate...	OMIM:605039
3Mc Syndrome 2	High palate, Cleft upper lip, Downturned corners of mouth, Cleft palate, Broad philtrum, Prominen...	OMIM:265050
Foxg1 Syndrome	Motor stereotypy, Bruxism, Stereotypical hand wringing, Paroxysmal bursts of laughter	ORPHA:561854
Chromosome 18Q Deletion Syndrome	Short philtrum, Mandibular prognathia, Cleft upper lip, Downturned corners of mouth, Bifid uvula,...	OMIM:601808
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Tented upper lip vermilion, Smooth philtrum, Brachydactyly, Clino...	ORPHA:313781
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Abnormal dental enamel morphology, Bifid uvula, Wide mouth, Cleft palate, Th...	ORPHA:2658
Baker-Gordon Syndrome	Self-injurious behavior, Motor stereotypy	OMIM:618218
Popliteal Pterygium Syndrome	Cleft upper lip, Bifid uvula, Cleft palate, Fibrous syngnathia, Lower lip pit	OMIM:119500
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Motor stereotypy	OMIM:617600
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Cleft palate, Wide mouth, Broad philtrum	ORPHA:1394
Orofaciodigital Syndrome I	Supernumerary tooth, High palate, Ankyloglossia, Agenesis of permanent teeth, Carious teeth, Enam...	OMIM:311200
Autosomal Dominant Popliteal Pterygium Syndrome	Non-midline cleft of the upper lip, Micrognathia, Cleft palate, Fibrous syngnathia, Thin upper li...	ORPHA:1300
Holoprosencephaly 2	Solitary median maxillary central incisor, Bilateral cleft palate, Median cleft palate, Bifid uvu...	OMIM:157170
Zaki Syndrome	Short philtrum, High palate, Micrognathia, Wide mouth, Median pseudocleft lip	OMIM:619648
Histidinemia	Hyperactivity	ORPHA:2157
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Intrauter...	OMIM:146510
Syngap1-Related Developmental And Epileptic Encephalopathy	Thin vermilion border, Narrow mouth, High palate, Postaxial polydactyly, Wide mouth	ORPHA:544254
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni...	OMIM:612651
Cardiofaciocutaneous Syndrome	Long philtrum, Submucous cleft hard palate, High palate	ORPHA:1340
Laurence-Moon Syndrome	Short stature, Abnormality of the hand, Polydactyly	OMIM:245800
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620502
2Q23.1 Microdeletion Syndrome	Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter	ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressiv...	OMIM:618825
Nephronophthisis 15	Polydactyly	OMIM:614845
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Median cleft palate, Short stature, Bilateral talipes equinova...	OMIM:119800
Isotretinoin Embryopathy-Like Syndrome	Cleft palate	OMIM:243440
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly, Tricuspid regurgitation	OMIM:600151
Osteopathia Striata With Cranial Sclerosis	Thick lower lip vermilion, Anal stenosis, Dental crowding, High palate, Anal atresia, Intestinal ...	OMIM:300373
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Motor stereotypy, Attention deficit hyperactivity disorder, Bruxism, Aggressive be...	OMIM:618342
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Anal atresia, Incomplete cleft of the upper lip, Cleft palate, Lobulated tongue, Natal tooth, Hyp...	OMIM:616300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short philtrum, Narrow mouth, High palate, Pyloric stenosis, Bifid uvula, Cleft palate	ORPHA:96184
Nevus Comedonicus Syndrome	Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly	ORPHA:64754
Orofaciodigital Syndrome Iii	Supernumerary tooth, Microdontia, Bifid uvula, Tongue nodules, Bifid tongue	OMIM:258850
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Thin vermilion border, Death in childhood, Protruding tongue, Bifid uvula, Cleft palate, Alveolar...	OMIM:612938
Tolchin-Le Caignec Syndrome	Narrow mouth, Submucous cleft hard palate, High palate	OMIM:618971
Isotretinoin Syndrome	Micrognathia, Cleft palate	ORPHA:2305
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pads, Broad thumb, Arachnodactyl...	OMIM:619721
Dubowitz Syndrome	Rectal prolapse, Anal stenosis, Delayed eruption of teeth, High palate, Abnormality of the dentit...	ORPHA:235
Alg9-Cdg	Enlarged kidney, Abnormal bone ossification, Hepatomegaly, Hypoplasia of the ovary, Hypoplastic n...	ORPHA:79328
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Inappropriate laughter, Motor stereotypy, Stereotypical hand wringing	OMIM:614104
Opitz-Kaveggia Syndrome	Narrow palate, Thick lower lip vermilion, Anal stenosis, Dental crowding, Anal atresia, Intestina...	OMIM:305450
Genitopalatocardiac Syndrome	Non-midline cleft of the upper lip, Downturned corners of mouth, Cleft palate, Micrognathia	ORPHA:2075
Bardet-Biedl Syndrome 19	Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly	OMIM:615996
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Enlarged kidney, Hepatomegaly	ORPHA:79128
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Meacham Syndrome	Blind vagina, Enlarged kidney, Bicornuate uterus, Male pseudohermaphroditism, Septate vagina, Hor...	OMIM:608978
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Syndactyly, Smooth philtrum	OMIM:602501
Arthrogryposis, Distal, Type 5D	Limited elbow movement, Elbow flexion contracture, Narrow mouth, Furrowed tongue, Camptodactyly, ...	OMIM:615065
Omodysplasia 2	Micrognathia, Cleft palate, Tented upper lip vermilion, Long philtrum, Bilateral cleft lip	OMIM:164745
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow...	ORPHA:1106
Marden-Walker Syndrome	Narrow mouth, Pyloric stenosis, Bifid uvula, Cleft palate, Submucous cleft hard palate	ORPHA:2461
Oculodentodigital Dysplasia	Broad alveolar ridges, Premature loss of teeth, Selective tooth agenesis, High palate, Microdonti...	OMIM:164200
Kapur-Toriello Syndrome	Intestinal malrotation, Cleft upper lip, Cleft palate	OMIM:244300
Phocomelia, Schinzel Type	Hypoplasia of the radius, High, narrow palate, Disproportionate short stature, Fibular aplasia, A...	ORPHA:2879
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cleft soft palate, Delayed eruption of teeth, Dental crowding, Esophageal varix, Narrow mouth, Hi...	OMIM:619503
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Thoracoabdominal Syndrome	Cleft upper lip, Cleft palate	OMIM:313850
Igg4-Related Kidney Disease	Urethritis, Acute kidney injury, Enlarged kidney, Hematuria, Renal interstitial immunoglobulin de...	ORPHA:449395
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Cleft palate	ORPHA:33001
Branchiootic Syndrome	Micrognathia, Cleft palate, Branchial fistula, Lip pit	ORPHA:52429
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Cleft lip, High palate	OMIM:612702
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate	OMIM:618891
Zttk Syndrome	Thin vermilion border, Intestinal atresia, Short philtrum, High palate, Abnormality of the dentit...	OMIM:617140
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Cleft palate, Death in childhood	OMIM:600460
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Stereotypical hand wringing, Skin-picking, Motor stereotypy, Self-injurious behavi...	OMIM:600430
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Polyhydramnios, Femoral bowing, Short long bone, Acetabular spurs, Short st...	OMIM:615503
Neu-Laxova Syndrome 2	Rocker bottom foot, Polyhydramnios, Finger syndactyly, High palate, Spina bifida, Cleft palate, I...	OMIM:616038
Mucolipidosis Ii Alpha/Beta	Osteopenia, Enlarged kidney, Hepatomegaly, Pathologic fracture, Limitation of joint mobility, Cam...	OMIM:252500
Nephrotic Syndrome, Type 11	High palate, Cleft lip, Arachnodactyly, Partial duplication of thumb phalanx, Cleft palate, Smoot...	OMIM:616730
Pontocerebellar Hypoplasia, Type 11	Attention deficit hyperactivity disorder, Self-injurious behavior, Dysphagia, Motor stereotypy	OMIM:617695
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Motor stereotypy	OMIM:615637
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Abnormal zygomatic bone morphology, Unilateral cleft lip, Malar flattening	ORPHA:2511
Warty Dyskeratoma	Abnormal hard palate morphology, Neoplasm of the tongue, Abnormal alveolar ridge morphology, Oral...	ORPHA:69745
Aminopterin/Methotrexate Embryofetopathy	Non-midline cleft of the upper lip, Mandibular prognathia, Cleft palate, Micrognathia	ORPHA:1908
Chromosome 15Q25 Deletion Syndrome	Thin vermilion border, Cleft palate, Tented upper lip vermilion, Cleft upper lip	OMIM:614294
Koolen-De Vries Syndrome	Narrow palate, Widely spaced teeth, High palate, Everted lower lip vermilion, Pyloric stenosis, C...	OMIM:610443
Developmental And Speech Delay Due To Sox5 Deficiency	Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy, Aggressive b...	ORPHA:313892
Joubert Syndrome 27	Polydactyly, Thick lower lip vermilion	OMIM:617120
Bardet-Biedl Syndrome 17	Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda...	OMIM:615994
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Narrow palate, Bifid uvula, Wide mouth, Thin upper lip vermilion	OMIM:620428
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Polyhydramnios, Flared metaphysis, Mesomelic/rhizomelic limb shorten...	ORPHA:2347
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior	OMIM:610042
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618504
Temple Syndrome	Bifid uvula, High palate, Cleft palate, Short philtrum	OMIM:616222
Viss Syndrome	High, narrow palate, Cleft soft palate, Chronic gastritis, High palate, Duodenitis, Intestinal ma...	OMIM:619472
Acromelic Frontonasal Dysplasia	Wide mouth, Median cleft upper lip, Median cleft palate	ORPHA:1827
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Short stature, Cleft palate, Nonimmune hydrops fetalis, Brachydactyly	OMIM:618265
Distal Deletion 17Q	Abnormality of the philtrum, Narrow mouth, Aplasia/Hypoplasia of the uvula	ORPHA:1597
Septooptic Dysplasia	Short stature, Short finger, Polydactyly	OMIM:182230
Otopalatodigital Syndrome Type 2	Glossoptosis, Myelomeningocele, Flared iliac wing, Anodontia, Fibular aplasia, Tarsal synostosis,...	ORPHA:90652
Joubert Syndrome 16	Polydactyly, Encephalocele	OMIM:614465
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Hydranencephaly, Dislocated radial ...	ORPHA:2839
Meckel Syndrome, Type 6	Cleft upper lip, Cleft palate	OMIM:612284
Joubert Syndrome 14	Short philtrum, Encephalocele, Meningocele, Hypertension, Growth delay, Postaxial polydactyly, Cl...	OMIM:614424
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, High palate, Narrow mouth, Anal atres...	ORPHA:989
Auriculocondylar Syndrome	Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Narrow mouth, Mandibular condyle ap...	ORPHA:137888
X-Linked Intellectual Disability, Cantagrel Type	Motor stereotypy	ORPHA:85277
Vici Syndrome	Everted upper lip vermilion, High palate, Median cleft palate, Cleft upper lip, Micrognathia, Cle...	OMIM:242840
Renal Agenesis, Bilateral	Non-midline cleft of the upper lip, Abnormal intestine morphology, Cleft palate, Tracheoesophagea...	ORPHA:1848
Cornelia De Lange Syndrome 1	High, narrow palate, Widely spaced teeth, Delayed eruption of teeth, High palate, Pyloric stenosi...	OMIM:122470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Nephrotic syndrome, Joint stiffness, Hepatosplenomegaly, Proteinuria, Flexion co...	ORPHA:505248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Death in infancy, Cleft upper lip, Cleft palate, Macroglossia	OMIM:613150
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Cleft palate, Natal tooth, Short philtrum	OMIM:617337
Congenital Sialidosis Type 2	Polydactyly, Gingival overgrowth, Ascites, Protruding tongue, Umbilical hernia, Edema, Abnormal E...	ORPHA:93400
Pseudotrisomy 13 Syndrome	Anal atresia, Cleft upper lip, Median cleft upper lip, Median cleft palate	OMIM:264480
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Joint contracture of the hand, Polyhydramnios, Deep palmar crease, Clinodactyly of t...	OMIM:247200
Campomelia, Cumming Type	Hydrops fetalis, Abnormal intestine morphology, Lymphedema, Bowing of the long bones, Micromelia,...	ORPHA:1318
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Bifid uvula, Broad philtrum	ORPHA:2872
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Holoprosencephaly 9	Agenesis of incisor, Thick lower lip vermilion, Solitary median maxillary central incisor, Short ...	OMIM:610829
Isolated Arrhinia	Tessier cleft	ORPHA:1134
Microcephaly-Micromelia Syndrome	Absent radius, Oligodactyly, Narrow mouth, Forearm undergrowth, Micromelia, Humeroradial synostos...	OMIM:251230
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Micromel...	OMIM:617866
Orofaciodigital Syndrome Type 1	Broad alveolar ridges, Abnormal dental enamel morphology, Open bite, High palate, Abnormality of ...	ORPHA:2750
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Oculodentodigital Dysplasia	Broad alveolar ridges, Abnormal dental enamel morphology, Non-midline cleft of the upper lip, Man...	ORPHA:2710
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl...	ORPHA:3320
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Micrognathia, Cleft palate	OMIM:153400
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Polydactyly, Abnormal tongue morphology, Downturned corners of mout...	ORPHA:531151
Smith-Magenis Syndrome	Hyperactivity, Head-banging, Self hugging, Motor stereotypy, Onychotillomania, Self-mutilation	OMIM:182290
Acrocardiofacial Syndrome	Cleft upper lip, Cleft palate, Anal atresia, Death in infancy	ORPHA:2008
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Talipes equinovarus, Tarsal synostosis, Cleft palate, Absent phalangeal crease	OMIM:618469
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Abnormal temper tantrums, Hyperactivity, Recurrent hand flapping, Motor stereotypy, Attention def...	ORPHA:449291
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Cleft palate	OMIM:606164
Osteopetrosis, Autosomal Dominant 1	Torus palatinus	OMIM:607634
Zimmermann-Laband Syndrome	Supernumerary tooth, Gingival fibromatosis, Anterior open-bite malocclusion, High palate, Bifid u...	ORPHA:3473
Steinfeld Syndrome	Bifid uvula, Median cleft upper lip, Median cleft palate	OMIM:184705
Tonne-Kalscheuer Syndrome	Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Narrow mouth	OMIM:300978
Holoprosencephaly 1	Tessier cleft, Median cleft upper lip, Median cleft palate, Short stature	OMIM:236100
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Motor stereotypy, Aggressive behavior	ORPHA:391307
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Childhood Disintegrative Disorder	Motor stereotypy	ORPHA:168782
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Motor stereotypy, Self-biting, Aggressive behavior	ORPHA:3306
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Hydrops fetalis, Polyhydramnios, Anencephaly, Micromelia, Postaxial polydac...	OMIM:616546
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy, Motor tics	OMIM:619725
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Long penis, Hypercalciuria, Overgrowth of ex...	ORPHA:508
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the long bones, Cl...	OMIM:611134
Retinitis Pigmentosa 89	Postaxial polydactyly, Esophageal varix	OMIM:618955
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndactyly, Brachy...	OMIM:617895
Houge-Janssens Syndrome 2	Postaxial polydactyly, Broad hallux, Tented upper lip vermilion, Open mouth, Hip dysplasia, Devia...	OMIM:616362
Joubert Syndrome 23	Polydactyly	OMIM:616490
Christianson Syndrome	Inappropriate laughter, Dysphagia, Motor stereotypy	ORPHA:85278
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior	OMIM:620242
Severe Intellectual Disability And Progressive Spastic Paraplegia	Motor stereotypy	ORPHA:280763
Frontofacionasal Dysplasia	Orofacial cleft, Hypoplasia of the frontal bone, Cleft upper lip, Bifid uvula, Malar flattening	OMIM:229400
Nijmegen Breakage Syndrome	Anal stenosis, Malar prominence, Anal atresia, Sinusitis, Cleft upper lip, Micrognathia, Cleft pa...	OMIM:251260
Campomelic Dysplasia	Narrow mouth, High palate, Irregular dentition, Carious teeth, Cleft palate, Long philtrum, Submu...	OMIM:114290
Hypomandibular Faciocranial Dysostosis	Narrow mouth, Death in infancy, Bifid uvula, Cleft palate, Aplasia/Hypoplasia of the tongue	ORPHA:1790
Microphthalmia, Syndromic 2	Supernumerary tooth, Radiculomegaly, Dental malocclusion, Delayed eruption of teeth, Oligodontia,...	OMIM:300166
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Tracheomalacia, Aplasia of the uterus, Bifid scrotum, U...	OMIM:618280
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Dental malocclusion	OMIM:613680
Holoprosencephaly 7	Solitary median maxillary central incisor, Bilateral cleft palate, Unilateral cleft palate, Media...	OMIM:610828
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Lamb-Shaffer Syndrome	Hyperactivity, Abnormal temper tantrums, Motor stereotypy	ORPHA:530983
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Thin vermilion border, Short philtrum, Downturned corners of mouth, Bifid uvula, Cleft palate, Su...	ORPHA:500150
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Short philtrum, Downturned corners of mouth, Bifid uvula, Long philtrum, Thin upper lip vermilion	OMIM:619121
Stickler Syndrome	Advanced eruption of teeth, Short hard palate, Abnormal dental enamel morphology, Open bite, Glos...	ORPHA:828
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Neoplasm of the tongue, Submucous cleft hard palate, Bifid uvula	ORPHA:3047
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Micrognathia, Cleft palate, Unilateral cleft lip	OMIM:616897
Ovarian Fibrothecoma	Gonadal calcification, Ovarian fibroma, Abnormal endometrium morphology, Abnormality of the ovary	ORPHA:314478
Rhombencephalosynapsis	Polydactyly, Aganglionic megacolon, Esophageal atresia, Finger syndactyly, Narrow mouth, Anal atr...	ORPHA:59315
Holoprosencephaly 3	Cleft lip, Bifid uvula, Solitary median maxillary central incisor, Cleft palate	OMIM:142945
Galloway-Mowat Syndrome 6	Motor stereotypy, Paroxysmal bursts of laughter	OMIM:618347
Crane-Heise Syndrome	Finger syndactyly, Short distal phalanx of finger, Cleft palate, Intrauterine growth retardation,...	ORPHA:1512
Restrictive Dermopathy 1	Stillbirth, Narrow mouth, Natal tooth, Neonatal death, Submucous cleft hard palate	OMIM:275210
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Coffin-Siris Syndrome 6	Attention deficit hyperactivity disorder, Tics, Motor stereotypy	OMIM:617808
Functioning Gonadotropic Adenoma	Osteopenia, Decreased response to growth hormone stimulation test, Isosexual precocious puberty, ...	ORPHA:91348
Tarp Syndrome	Rocker bottom foot, Talipes equinovarus, Finger syndactyly, Single transverse palmar crease, Glos...	ORPHA:2886
Kyphomelic Dysplasia	Cleft upper lip, Micrognathia, Cleft palate	OMIM:211350
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Thin lower lip vermilion, Abnormality of the dentition, Anal atresia, Carious teeth, Thick upper ...	ORPHA:363444
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Microdontia of primary teeth, Gingival overgrowth, High palate, Hypoplasia of the maxilla, Cleft ...	OMIM:213980
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, High palate, Bifid uvula, Hypodontia, Dental malocclusion	OMIM:612350
Xq28 (MECP2) duplication	Dysphagia, Motor stereotypy	DECIPHER:45
Temple Syndrome	Bifid uvula	ORPHA:254516
Alazami Syndrome	Self-mutilation, Abnormal eating behavior, Motor stereotypy, Stereotypical hand wringing	ORPHA:319671
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Congenital Disorder Of Glycosylation, Type Iil	Esophageal varix, Peau d'orange, Growth delay, Enamel hypoplasia, Inflammation of the large intes...	OMIM:614576
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly, Encephalocele	OMIM:611560
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect...	ORPHA:731
Potocki-Lupski Syndrome	Hyperactivity, Motor stereotypy, Oral-pharyngeal dysphagia	OMIM:610883
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Faciocardiorenal Syndrome	Hypodontia, Cleft palate, Narrow mouth, Smooth philtrum	ORPHA:1973
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Aganglionic megacolon, Temporomandibular joint ankylosis, Cleft upper lip, Velophar...	OMIM:154400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormality of the dentition, Anal atresia, Short foot, Short stature, Postaxial polydactyly, Bif...	OMIM:300968
Joubert Syndrome 17	Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Aicardi Syndrome	Intestinal polyposis, Short philtrum, Cleft upper lip, Cleft palate, Prominence of the premaxilla...	ORPHA:50
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Meckel Syndrome 14	Occipital encephalocele, Postaxial hand polydactyly, Bowing of the long bones, Tricuspid regurgit...	OMIM:619879
Catel-Manzke Syndrome	High palate, Glossoptosis, Narrow mouth, Cleft upper lip, Micrognathia, Pierre-Robin sequence, Bi...	OMIM:616145
5Q14.3 Microdeletion Syndrome	Motor stereotypy	ORPHA:228384
Lymphatic Malformation 6	Polyhydramnios, Chylothorax, Genital edema, Lymphedema, Pleural effusion, Ascites, Short stature,...	OMIM:616843
Alg3-Cdg	Macroglossia, High palate, Abnormal uvula morphology	ORPHA:79321
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Recurrent hand flapping, Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity ...	OMIM:300986
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Polyhydramnios, D...	ORPHA:3144
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Oligohydramnios, Postaxial polydactyly	OMIM:615824
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Submucous cleft hard palate, Bifid uvula, Thick vermilion border, Cleft palate	ORPHA:2636
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Tongue thrusting, Recurrent hand flapping, Impulsivity, Motor stereotypy, Attention deficit hyper...	OMIM:619580
Hartsfield Syndrome	Cleft upper lip, Hypoplasia of the frontal bone, Cleft palate, Median cleft upper lip	OMIM:615465
Nail-Patella Syndrome	Cleft upper lip, Cleft palate	OMIM:161200
Autosomal Recessive Centronuclear Myopathy	Narrow mouth, Bifid uvula, High palate	ORPHA:169186
3Mc Syndrome 1	Dental crowding, Cleft lip, Cleft palate, Cleft upper lip	OMIM:257920
Short-Rib Thoracic Dysplasia 12	Median cleft palate, Intestinal malrotation, Natal tooth, Lobulated tongue, Hamartoma of tongue, ...	OMIM:269860
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Hamartomatous stomach polyps, Mandibular prognathia, Cleft up...	OMIM:109400
Mesomelia-Synostoses Syndrome	High, narrow palate, Aplasia/Hypoplasia of the uvula, Narrow mouth, Abnormal oral frenulum morpho...	ORPHA:2496
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Camptodactyly, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidn...	ORPHA:500095
Bardet-Biedl Syndrome 1	High, narrow palate, Aganglionic megacolon, Radial deviation of finger, Dental crowding, Hyperten...	OMIM:209900
Pentalogy Of Cantrell	Orofacial cleft, Cleft palate, Non-midline cleft of the upper lip	ORPHA:1335
Bor Syndrome	Retrognathia, Cleft palate, Branchial cyst	ORPHA:107
Hijazi-Reis Syndrome	Motor stereotypy	OMIM:301094
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Compulsive behaviors, Motor stereotypy, Aggressive behavior	OMIM:618430
Holoprosencephaly	Solitary median maxillary central incisor, Branchial anomaly, Median cleft palate, Tooth agenesis...	ORPHA:2162
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Cerebrooculonasal Syndrome	Narrow palate, Postnatal growth retardation, Solitary median maxillary central incisor, Encephalo...	OMIM:605627
Developmental And Epileptic Encephalopathy 6B	Motor stereotypy	OMIM:619317
Van Den Ende-Gupta Syndrome	Dislocated radial head, Dental crowding, Femoral bowing, Everted lower lip vermilion, Arachnodact...	OMIM:600920
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, Short lower limbs...	OMIM:615873
Neuroocular Syndrome	Widely spaced teeth, Short uvula, Increased overbite, Ankyloglossia, Downturned corners of mouth,...	OMIM:619539
Cranioectodermal Dysplasia 2	Polydactyly, Widely spaced teeth, Rhizomelia, Hydrops fetalis, Polyhydramnios, Hypertension, High...	OMIM:613610
Familial Adenomatous Polyposis 4	Uterine leiomyoma, Ovarian cyst, Renal cyst	OMIM:617100
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Motor stereotypy	ORPHA:529965
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia	ORPHA:208447
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Retrognathia, Wide mouth, Median pseudocleft lip	OMIM:619758
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aganglionic megacolon, Thick lower lip vermilion, Cleft hard palate, Short philtrum, Delayed erup...	ORPHA:261537
Fryns Syndrome	Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Anal atresia, Intestinal malrotat...	OMIM:229850
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, High palate, Villous atrophy	OMIM:601110
Duane-Radial Ray Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Ag...	OMIM:607323
Wiedemann-Rautenstrauch Syndrome	Short philtrum, Premature loss of teeth, Narrow mouth, Abnormality of the dentition, Downturned c...	ORPHA:3455
Mowat-Wilson Syndrome	Widely spaced teeth, Aganglionic megacolon, Thick lower lip vermilion, Cleft hard palate, Delayed...	ORPHA:2152
Hypoplasminogenemia	Cervicitis, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of the ovary	ORPHA:722
Joubert Syndrome 37	Short stature, High palate, Postaxial polydactyly	OMIM:619185
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hydrops fetalis, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Shor...	OMIM:263520
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Ecto...	ORPHA:2473
Coffin-Siris Syndrome 7	Hyperactivity, Severe temper tantrums, Compulsive behaviors, Motor stereotypy	OMIM:618027
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Motor stereotypy	OMIM:619092
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Craniofrontonasal Syndrome	Cleft upper lip, Cleft palate, Abnormality of the dentition	OMIM:304110
Orofaciodigital Syndrome Type 3	Abnormality of the dentition, Irregular dentition, Bifid uvula, Lobulated tongue, Hamartoma of to...	ORPHA:2752
Pseudoaminopterin Syndrome	Orofacial cleft, Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip s...	ORPHA:221120
Cerebrocostomandibular Syndrome	Short hard palate, Cleft palate, Glossoptosis, Death in infancy	ORPHA:1393
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Motor stereotypy	OMIM:613443
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells...	OMIM:228300
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Anal stenosis, Selective tooth agenesis, Microdontia, Hypoplasia of the ...	OMIM:604292
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Thick lower lip vermilion, Widely spaced teeth, Short philtrum, ...	OMIM:619297
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Polyhydramnios, Rhizomelia, Epiphyseal stippling, Stippled calcific...	OMIM:302960
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Rectovaginal fistula, Oligodontia, Selective tooth agenesis, Microdontia...	OMIM:129900
Cranioectodermal Dysplasia 3	Widely spaced teeth, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Everted lower lip vermilion, Sho...	OMIM:614099
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Stereotypical body rocking, ...	OMIM:300912
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Motor stereotypy, Impulsivity, Aggressive behavior	OMIM:618914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cleft upper lip, Micrognathia, Cleft palate, Anal atresia	OMIM:236670
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, High palate, Postaxial polydactyly, Long fin...	OMIM:617527
Houge-Janssens Syndrome 3	Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy	OMIM:618354
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:98784
Intellectual Developmental Disorder, Autosomal Dominant 34	Bruxism, Motor stereotypy	OMIM:616351
Cri-Du-Chat Syndrome	Orofacial cleft, Thick lower lip vermilion, Short philtrum, Anterior open-bite malocclusion, High...	OMIM:123450
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, High palate, Cleft upper lip, Bifid uvula, Abnormality of the anus, Long philtru...	OMIM:607872
Ogden Syndrome	Enlarged kidney, Polycystic kidney dysplasia, Decreased testicular size, Global glomerulosclerosi...	OMIM:300855
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abnormal male externa...	ORPHA:95699
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, High palate, Carious teeth, Hypoplasia of teeth, Bifid uvula, Wide mou...	OMIM:607812
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Renal agenesis, Block vertebrae, Cardiomegaly, Horseshoe kidney	OMIM:306955
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Motor stereotypy	ORPHA:411986
Wolf-Hirschhorn Syndrome	Short philtrum, Abnormality of the philtrum, Cleft upper lip, Downturned corners of mouth, Cleft ...	ORPHA:280
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney	OMIM:261740
Dentici-Novelli Neurodevelopmental Syndrome	Motor stereotypy	OMIM:619877
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Motor stereotypy	ORPHA:397612
Coffin-Siris Syndrome 12	Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate	OMIM:619325
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Bruxism, Motor stereotypy	OMIM:618004
Proteus Syndrome	Cranial hyperostosis, Enlarged kidney, Ovarian neoplasm, Long penis, Hyperostosis, Testicular neo...	ORPHA:744
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aganglionic megacolon, Thick lower lip vermilion, Cleft hard palate, Short philtrum, Delayed erup...	ORPHA:261552
Meckel Syndrome, Type 1	Anal atresia, Intestinal malrotation, Cleft upper lip, Micrognathia, Cleft palate, Lobulated tong...	OMIM:249000
Vacterl/Vater Association	Non-midline cleft of the upper lip, Cleft palate, Anal atresia, Tracheoesophageal fistula	ORPHA:887
Au-Kline Syndrome	Deep palmar crease, Clinodactyly of the 5th finger, Oligodontia, Hypertension, High palate, Lipom...	OMIM:616580
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Motor stereotypy	OMIM:617751
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Self-biting	OMIM:618314
Larsen Syndrome	Hypodontia, Cleft upper lip, Cleft palate, Malar flattening	OMIM:150250
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Self-mutilation, Motor stereotypy	ORPHA:457240
Holoprosencephaly 14	Cleft lip, Cleft palate, Median cleft upper lip	OMIM:619895
Rabson-Mendenhall Syndrome	Polydactyly, Advanced eruption of teeth, Severe postnatal growth retardation, Dental crowding, Gi...	ORPHA:769
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Oculopalatocerebral Syndrome	Cleft palate	OMIM:257910
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Dysphagia, Motor stereotypy	ORPHA:572013
Tetraamelia Syndrome 1	Cleft upper lip, Micrognathia, Cleft palate, Anal atresia	OMIM:273395
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Mowat-Wilson Syndrome	Aganglionic megacolon, Widely spaced teeth, Tooth malposition, Delayed eruption of teeth, Pyloric...	OMIM:235730
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Long philtrum, Thin vermilion border, Bifid uvula, Thin upper lip vermilion	OMIM:241410
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Compulsive behaviors, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disorder, Self...	OMIM:617061
Distal Deletion 12Q	Supernumerary tooth, High, narrow palate, Esophageal atresia, Pyloric stenosis, Micrognathia, Smo...	ORPHA:96149
Aicardi Syndrome	Cleft upper lip, Cleft palate, Prominence of the premaxilla, Hiatus hernia	OMIM:304050
Treacher Collins Syndrome 2	Retrognathia, Micrognathia, Cleft palate, Malar flattening, Microretrognathia, Hypoplasia of the ...	OMIM:613717
Pilarowski-Bjornsson Syndrome	Motor stereotypy	OMIM:617682
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Stolerman Neurodevelopmental Syndrome	Thick vermilion border, Bifid uvula, Wide mouth, Abnormality of the dentition	OMIM:618505
Restrictive Dermopathy	Submucous cleft hard palate, Natal tooth, Narrow mouth, Microcolon	ORPHA:1662
4Q21 Microdeletion Syndrome	Self-injurious behavior, Motor stereotypy	ORPHA:238750
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Pica, Motor stereotypy, Obsessive-compulsive trait	OMIM:617796
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy	ORPHA:1727
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplastic iliac wing, ...	OMIM:180849
Developmental And Epileptic Encephalopathy 66	Motor stereotypy	OMIM:618067
Hydroxykynureninuria	Motor stereotypy	ORPHA:79155
Snijders Blok-Campeau Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618205
Mend Syndrome	Polydactyly, 2-3 toe syndactyly, High palate, Aortic valve stenosis, Short stature, Long fingers,...	OMIM:300960
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Juvenile Neuronal Ceroid Lipofuscinosis	Dysphagia, Motor stereotypy	ORPHA:79264
Diamond-Blackfan Anemia 1	Retrognathia, High palate, Cleft upper lip, Micrognathia, Cleft palate, Colon cancer	OMIM:105650
Transketolase Deficiency	Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st...	ORPHA:488618
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Polyhydramnios, Short clavicles, Short long bone,...	OMIM:617088
48,Xxyy Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:10
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Branchiootorenal Syndrome 1	Increased overbite, High palate, Microdontia, Intestinal malrotation, Bifid uvula, Cleft palate	OMIM:113650
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Tented upper lip vermilion, High palate, Deep philtrum	ORPHA:314655
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Motor stereotypy	ORPHA:927
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Obsessive-compulsive trait, Motor stereotypy, Aggressive behavior	ORPHA:168491
Wolf-Hirschhorn Syndrome	Orofacial cleft, Short philtrum, Short upper lip, Cleft upper lip, Downturned corners of mouth, C...	OMIM:194190
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Thick lower lip vermilion, Short philtrum, Dental crowding, Bifid uvula, Cle...	OMIM:309583
Adnp Syndrome	Polydactyly, Advanced eruption of teeth, Thick lower lip vermilion, Sandal gap, Single transverse...	ORPHA:404448
Trisomy 18	Narrow palate, Esophageal atresia, Non-midline cleft of the upper lip, Narrow mouth, Anal atresia...	ORPHA:3380
Sweeney-Cox Syndrome	Short philtrum, Narrow mouth, High palate, Anal atresia, Median cleft palate, Velopharyngeal insu...	OMIM:617746
Marshall Syndrome	Thick lower lip vermilion, Thick upper lip vermilion, Bifid uvula, Cleft palate, Pierre-Robin seq...	OMIM:154780
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Clinodactyly of the 5th finger, Aortic regurgitation, Acromesomelia, Pyloric stenosi...	ORPHA:464306
Holt-Oram Syndrome	Long philtrum, Cleft soft palate	OMIM:142900
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Compulsive behaviors, Motor stereotypy	OMIM:613174
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Repetitive compulsive behavior, Bruxism, Dysphagia, Motor stereotypy	OMIM:300260
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Short philtrum, High palate, Downturned corners of mouth, Bifid uvula, Ten...	ORPHA:247262
Hereditary Angioedema Type 1	Intestinal edema, Abnormal uvula morphology, Abnormal soft palate morphology	ORPHA:100050
Blepharophimosis-Impaired Intellectual Development Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Overfriendliness	OMIM:619293
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Intestinal pseudo-obstruction, Branchial anomaly, Abnormality of primary tee...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Intestinal pseudo-obstruction, Branchial anomaly, Abnormality of primary tee...	ORPHA:352665
Childhood Absence Epilepsy	Attention deficit hyperactivity disorder, Punding	ORPHA:64280
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Self-mutilation, Motor stereotypy	OMIM:300486
Radio-Tartaglia Syndrome	Impulsivity, Dysphagia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive be...	OMIM:619312
Fraser-Like Syndrome	Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger	OMIM:229230
Ritscher-Schinzel Syndrome 4	Motor stereotypy, Dysphagia, Impulsivity, Aggressive behavior	OMIM:619435
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Palmar pits, Odontogenic keratocysts of the jaw, Delayed eruption o...	ORPHA:77301
Intellectual Developmental Disorder, Autosomal Dominant 38	Hair-pulling, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressive behavior	OMIM:616393
Carpenter Syndrome 2	Broad thumb, Umbilical hernia, Long philtrum, Narrow palate, Camptodactyly, Carious teeth, Preaxi...	OMIM:614976
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Two carpal ossification centers present a...	OMIM:312870
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Mandibular prognathia, Cleft upper lip, Cleft palate, Wide mouth, Macroglossia	ORPHA:373
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Motor stereotypy	OMIM:617807
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Dysphagia, Motor stereotypy	OMIM:617802
Peters-Plus Syndrome	Thin vermilion border, Widely spaced teeth, Conical incisor, Short lingual frenulum, Exaggerated ...	OMIM:261540
Nijmegen Breakage Syndrome	Retrognathia, Anal stenosis, Non-midline cleft of the upper lip, Anal atresia, Cleft palate, Deep...	ORPHA:647
Meckel Syndrome 12	Bifid uvula	OMIM:616258
Rett Syndrome	Agitation, Bruxism, Motor stereotypy, Stereotypical hand wringing	ORPHA:778
Bardet-Biedl Syndrome 12	Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:615989
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Hypertension, Femoral bowing, Bifid first metacarpal, Short metacarpal, Shor...	OMIM:210710
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Motor stereotypy	ORPHA:500159
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Motor stereotypy	OMIM:619428
Charge Syndrome	Abnormal soft palate morphology, Delayed eruption of teeth, Narrow mouth, Tracheoesophageal fistu...	ORPHA:138
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Cleft upper lip	OMIM:308050
Spondyloepiphyseal Dysplasia Congenita	Pierre-Robin sequence, Bifid uvula, Cleft palate	OMIM:183900
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Motor stereotypy, Overfriendliness	OMIM:616579
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Intestinal malrotation...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Intestinal malrotation...	ORPHA:353277
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Umbilical hernia, Intrauterine gro...	ORPHA:672
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620073
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic leg shortening, Early ossification of capital femoral epiphys...	ORPHA:397715
Rauch-Steindl Syndrome	Hyperactivity, Motor stereotypy, Aggressive behavior	OMIM:619695
Focal Dermal Hypoplasia	Delayed eruption of teeth, Oligodontia, Intestinal malrotation, Enamel hypoplasia, Cleft upper li...	OMIM:305600
Adams-Oliver Syndrome 1	Cleft upper lip, Cleft palate	OMIM:100300
Peters Plus Syndrome	Widely spaced teeth, Exaggerated cupid's bow, Anal atresia, Cleft upper lip, Intestinal fistula, ...	ORPHA:709
Neuhauser Syndrome	Long philtrum, Bifid uvula, High palate	OMIM:249310
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bifid uvula, High palate	OMIM:300472
Branchiooculofacial Syndrome	Branchial anomaly, Abnormality of the dentition, Pyloric stenosis, Cleft upper lip, Micrognathia,...	OMIM:113620
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Cardiomyopathy, Long philtrum, Overlapping toe, Tooth malposition, Abnormality o...	ORPHA:480880
Neu-Laxova Syndrome 1	Stillbirth, Thick lower lip vermilion, Swollen lip, Cleft upper lip, Cleft palate, Neonatal death	OMIM:256520
Alobar Holoprosencephaly	Solitary median maxillary central incisor, High palate, Bifid uvula, Cleft palate, Median cleft u...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Solitary median maxillary central incisor, High palate, Bifid uvula, Cleft palate, Median cleft u...	ORPHA:93926
Lobar Holoprosencephaly	Solitary median maxillary central incisor, High palate, Bifid uvula, Cleft palate, Median cleft u...	ORPHA:93924
Semilobar Holoprosencephaly	Solitary median maxillary central incisor, High palate, Bifid uvula, Cleft palate, Median cleft u...	ORPHA:220386
Robinow Syndrome, Autosomal Dominant 1	Narrow palate, Orofacial cleft, Triangular mouth, Delayed eruption of teeth, Short hard palate, D...	OMIM:180700
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Mitral regurgitation	OMIM:603387
Apert Syndrome	Narrow palate, Esophageal atresia, Delayed eruption of teeth, Ectopic anus, Bifid uvula, Cleft pa...	ORPHA:87
Stromme Syndrome	Preaxial polydactyly, Intestinal malrotation, Cleft palate, Wide mouth, Jejunal atresia, Duodenal...	OMIM:243605
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-mutilation...	ORPHA:476126
Degcags Syndrome	Pulmonic stenosis, Wide mouth, Syndactyly, Long philtrum, Intrauterine growth retardation, Polyda...	OMIM:619488
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Polyhydramnios	OMIM:219730
ERI1-related disease	Velopharyngeal insufficiency, High palate	OMIM:608739
Chand Syndrome	Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala...	ORPHA:1401
Okamoto Syndrome	Polydactyly, Anal stenosis, Severe postnatal growth retardation, Open bite, Exaggerated median to...	ORPHA:2729
White-Sutton Syndrome	Hyperactivity, Tics, Overfriendliness, Motor stereotypy, Self-injurious behavior, Aggressive beha...	OMIM:616364
Cystinosis	Polydipsia, Motor stereotypy	ORPHA:213
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate	ORPHA:1969
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Fraser Syndrome	Orofacial cleft, Anal stenosis, Dental crowding, Ectopic anus, High palate, Anal atresia, Cleft u...	ORPHA:2052
Craniofacial Microsomia 1	Transverse facial cleft, Branchial anomaly, Maxillozygomatic hypoplasia, Hypoplasia of the maxill...	OMIM:164210
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, High ...	OMIM:209885
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious ...	OMIM:620494
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy	ORPHA:1001
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Orofacial cleft, Median cleft upper lip	ORPHA:3186
Cerebral Creatine Deficiency Syndrome 1	Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior	OMIM:300352
Aprosencephaly And Cerebellar Dysgenesis	Bifid uvula	OMIM:601374
Chromosome 15Q11.2 Deletion Syndrome	Attention deficit hyperactivity disorder, Compulsive behaviors, Motor stereotypy	OMIM:615656
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, Gingival overgrowth, High palate, Narrow mouth, Bifid uvula, Natal tooth, Anterior...	OMIM:123790
Khan-Khan-Katsanis Syndrome	Triangular mouth, Tricuspid regurgitation, Short stature, Postaxial polydactyly, Tented upper lip...	OMIM:618460
Foxg1 Syndrome Due To 14Q12 Microdeletion	Motor stereotypy	ORPHA:261144
Rett Syndrome, Congenital Variant	Bruxism, Motor stereotypy, Tongue thrusting	OMIM:613454
Prader-Willi Syndrome Due To Translocation	Microdontia of primary teeth, High palate, Everted lower lip vermilion, Carious teeth, Downturned...	ORPHA:177907
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Orofacial cleft, Hypertrophic cardiomyopathy, Growth delay, Short humerus, Short femur	ORPHA:17
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Oligodontia, High palate, Furrowed tongue, Downturned corners of mouth, Cleft palate, Bifid uvula...	ORPHA:453499
Kleefstra Syndrome 1	Compulsive behaviors, Motor stereotypy, Aggressive behavior	OMIM:610253
Legius Syndrome	Polydactyly, Clinodactyly of the 5th finger, Pulmonic stenosis, Short stature, Paroxysmal atrial ...	ORPHA:137605
Joubert Syndrome 6	Motor stereotypy	OMIM:610688
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation	ORPHA:99819
Vater/Vacterl Association	Postnatal growth retardation, Occipital encephalocele, Hypoplasia of the radius, Preaxial polydac...	OMIM:192350
Loeys-Dietz Syndrome 4	High, narrow palate, High palate, Eosinophilic infiltration of the esophagus, Bifid uvula, Broad ...	OMIM:614816
Congenital Disorder Of Glycosylation, Type It	Pierre-Robin sequence, Bifid uvula, Cleft palate	OMIM:614921
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Inappropriate laughter, Motor stereotypy	OMIM:615802
Elsahy-Waters Syndrome	Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Anal stenosis, Delayed erupt...	OMIM:211380
Congenital Disorder Of Glycosylation, Type Iia	Self-mutilation, Motor stereotypy, Stereotypical hand wringing, Aggressive behavior	OMIM:212066
Proximal 16P11.2 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:261197
Neurocardiofaciodigital Syndrome	Polydactyly, Thin vermilion border, High palate, Short stature, Syndactyly	OMIM:619869
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Head-banging, Frequent temper tantrums, Motor stereotypy, Attention deficit hyperactivity disorde...	OMIM:619575
White-Sutton Syndrome	Hyperactivity, Compulsive behaviors, Motor stereotypy, Self-injurious behavior, Aggressive behavior	ORPHA:468678
Alstrom Syndrome	Polydactyly, Congestive heart failure, Hypertension, Gingivitis, Abnormality of the dentition, Sh...	OMIM:203800
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Orofaciodigital Syndrome Xiv	Supernumerary tooth, Occipital encephalocele, Aplasia of the epiglottis, Preaxial polydactyly, Po...	OMIM:615948
Microphthalmia, Syndromic 6	Polydactyly, Abnormality of the hand, Clinodactyly of the 5th finger, Finger syndactyly, Single t...	OMIM:607932
Phelan-Mcdermid Syndrome	Bruxism, Motor stereotypy, Tongue thrusting, Aggressive behavior	OMIM:606232
Hydrolethalus Syndrome 1	Stillbirth, Cleft palate, Median cleft upper lip	OMIM:236680
Faciocardiomelic Syndrome	Polydactyly, Slender long bone, Hypoplastic pelvis, Wide mouth, Long philtrum, Dental malocclusion	OMIM:612731
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Velopharyngeal insufficiency, High palate	OMIM:620663
Joubert Syndrome 39	Postaxial polydactyly, Occipital encephalocele, Joint contracture of the 5th finger	OMIM:619562
Frontometaphyseal Dysplasia 2	Short philtrum, High palate, Pyloric stenosis, Bifid uvula, Cleft palate, Pierre-Robin sequence, ...	OMIM:617137
Choanal Atresia	Polydactyly	ORPHA:137914
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Polydactyly, Pituitary dwarfism, Hypotension, Median cleft palate, Abnormal digi...	ORPHA:95494
Bardet-Biedl Syndrome 20	Postaxial polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydactyly	OMIM:619471
Den Hoed-De Boer-Voisin Syndrome	Motor stereotypy, Agitation, Dysphagia, Stereotypical hand wringing	OMIM:619229
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Motor stereotypy, Hair-pulling, Dysphagia	ORPHA:447997
Kleefstra Syndrome	Self-injurious behavior, Self-mutilation, Motor stereotypy, Aggressive behavior	ORPHA:261494
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Aplastic zygomatic arch, High palate, Hypoplasia of the maxilla, Micrognathia, Clef...	OMIM:616462
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Motor stereotypy	ORPHA:457351
Megalocornea-Intellectual Disability Syndrome	Motor stereotypy	ORPHA:2479
Bainbridge-Ropers Syndrome	Self-injurious behavior, Recurrent hand flapping, Motor stereotypy	OMIM:615485
Microphthalmia, Syndromic 1	Orofacial cleft, High, narrow palate, Aganglionic megacolon, Rectal prolapse, Tooth malposition, ...	OMIM:309800
Bardet-Biedl Syndrome	Long philtrum, Aganglionic megacolon, Abnormal oral cavity morphology, Hypodontia, Dental crowdin...	ORPHA:110
Charge Syndrome	Anal stenosis, Esophageal atresia, Tracheoesophageal fistula, Anal atresia, Cleft upper lip, Micr...	OMIM:214800
Loeys-Dietz Syndrome 2	Absent distal phalanges, Camptodactyly, Eosinophilic infiltration of the esophagus, Arachnodactyl...	OMIM:610168
Biliary, Renal, Neurologic, And Skeletal Syndrome	Polydactyly, Bidirectional shunt, Polyhydramnios, Aortic regurgitation, Ascites, Esophageal varix...	OMIM:619534
Developmental And Epileptic Encephalopathy 2	Motor stereotypy	OMIM:300672
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Attention deficit hyperactivity disorder, Self-mutilation, Motor stereotypy	OMIM:619005
Roberts-Sc Phocomelia Syndrome	High palate, Cleft upper lip, Micrognathia, Cleft palate, Malar flattening, Hyperplasia of the ma...	OMIM:268300
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Reduced bone mineral density, Renal hypoplasia/aplasia, Ectopic kidney, High urinary ...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Reduced bone mineral density, Renal hypoplasia/aplasia, Ectopic kidney, High urinary ...	ORPHA:99228
Monosomy X	Osteopenia, Reduced bone mineral density, Renal hypoplasia/aplasia, Ectopic kidney, High urinary ...	ORPHA:99226
Turner Syndrome	Osteopenia, Reduced bone mineral density, Renal hypoplasia/aplasia, Ectopic kidney, High urinary ...	ORPHA:881
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Self-mutilation, Repetitive compulsive behavior, Motor stereotypy, Self-biting	ORPHA:522077
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Dysphagia, Motor stereotypy	ORPHA:496641
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Motor stereotypy	ORPHA:300570
7Q11.23 Microduplication Syndrome	Hyperactivity, Polyphagia, Collectionism, Motor stereotypy, Self-injurious behavior, Aggressive b...	ORPHA:96121
Niemann-Pick Disease, Type C2	Dysphagia, Motor stereotypy	OMIM:607625
Wiedemann-Steiner Syndrome	Hyperactivity, Dysphagia, Motor stereotypy, Aggressive behavior	ORPHA:319182
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Postaxial polydactyly, Broad hallux, Open mouth, Hip dysplasia	ORPHA:457284
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Compulsive behaviors, Frequent temper tantrums, Motor stereotypy, Self-injurious b...	OMIM:619512
Ring Chromosome 7 Syndrome	Thin vermilion border, Short philtrum, Narrow mouth, Median cleft palate, Bifid uvula, Cleft palate	ORPHA:1449
Van Esch-O'Driscoll Syndrome	Esophageal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Bifid uvula, Wide mouth	OMIM:301030
Traboulsi Syndrome	Dental malocclusion, Bifid uvula, High palate	OMIM:601552
Pitt-Hopkins Syndrome	Self-injurious behavior, Motor stereotypy	OMIM:610954
Loeys-Dietz Syndrome 1	High palate, Postaxial hand polydactyly, Camptodactyly, Eosinophilic infiltration of the esophagu...	OMIM:609192
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Agitation, Restrictive behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Motor stereoty...	OMIM:619475
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Exaggerated cupid's bow, Bifid uvula, Narrow mouth, Thick vermilion border	OMIM:619480
Meester-Loeys Syndrome	Gingival overgrowth, Bifid uvula, High palate	OMIM:300989
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Hyperactivity, Impulsivity, Oppositional defiant disorder, Motor stereo...	ORPHA:580
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Motor stereotypy	OMIM:301040
Loeys-Dietz Syndrome	Orofacial cleft, Bifid uvula, High palate	ORPHA:60030
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Motor stereotypy	ORPHA:508533
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Nail-biting, Polyphagia, Fixated interests, Motor stereotypy, Attention deficit hyp...	OMIM:620330
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:464311
Developmental And Epileptic Encephalopathy 100	Dysphagia, Motor stereotypy	OMIM:619777
Lacrimoauriculodentodigital Syndrome	Orofacial cleft, Abnormal salivary gland morphology, Abnormal dental enamel morphology, Abnormali...	ORPHA:2363
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Motor stereotypy, Aggressive behavior	OMIM:301066
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Motor stereotypy	ORPHA:468631
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hyperactivity, Compulsive behaviors, Impulsivity, Motor stereotyp...	ORPHA:353281
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Motor stereotypy	OMIM:618653
Aneurysm-Osteoarthritis Syndrome	Dental malocclusion, Bifid uvula, High palate, Cleft palate	ORPHA:284984
Oculocerebrorenal Syndrome Of Lowe	Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st...	ORPHA:534
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Motor stereotypy	ORPHA:508498
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Stereotypical body rocking, Repetitive compulsive behavior, Motor stereotypy	ORPHA:513456
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior	OMIM:614756
Hypotonia, Ataxia, And Delayed Development Syndrome	Dysphagia, Motor stereotypy	OMIM:617330
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Motor stereotypy	OMIM:309590
Arboleda-Tham Syndrome	Dysphagia, Motor stereotypy	OMIM:616268
Nmda Receptor Encephalitis	Agitation, Hypersexuality, Motor stereotypy	ORPHA:217253
1P36 Deletion Syndrome	Self-injurious behavior, Polyphagia, Dysphagia, Motor stereotypy	ORPHA:1606
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Motor stereotypy	OMIM:301044
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Motor stereotypy	OMIM:616682
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Motor stereotypy	OMIM:612474
Lowe Oculocerebrorenal Syndrome	Motor stereotypy, Aggressive behavior	OMIM:309000
Primrose Syndrome	Tics, Motor stereotypy, Restlessness, Attention deficit hyperactivity disorder, Self-injurious be...	OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Attention deficit hyperactivity disorder, Dysphagia, Motor stereotypy	OMIM:619522
Norrie Disease	Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy	ORPHA:649
Deafness, Autosomal Recessive 109		OMIM:618013

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Esrp1

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Esrp1.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Esrp1 MGI:1917326

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

Gross Morphology Embryo E9.5

MicroCT E14.5-E15.5

Human diseases caused by Esrp1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data