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Gene: Pgap2 MGI:2385286

Gene Summary

Name:

post-GPI attachment to proteins 2

Synonyms:

Frag1, clpex, 1810006G21Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Pgap2^{tm1b(EUCOMM)Wtsi}	HOM		Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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DSS Histology

Images

8 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Pgap2^{tm1b(EUCOMM)Wtsi}
WT, Female, WTSI

View all 125 images

Pgap2^{tm1b(EUCOMM)Wtsi}
WT, Female, WTSI

Pgap2^{tm1b(EUCOMM)Wtsi}
abnormal skin pigmentation, HET, Female, WTSI

Pgap2^{tm1b(EUCOMM)Wtsi}
abnormal digit morphology, HET, Male, WTSI

Pgap2^{tm1b(EUCOMM)Wtsi}
kinked tail, WT, Female, WTSI

Pgap2^{tm1b(EUCOMM)Wtsi}
abnormal sternum morphology, WT, Female, WTSI

View all 6 images

Pgap2^{tm1b(EUCOMM)Wtsi}
abnormal retinal pigmentation, HET, Female, WTSI

Human diseases caused by Pgap2 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 Pgap2 (2 diseases)
Human diseases predicted to be associated with Pgap2 (1094 diseases)

The table below shows human diseases associated to Pgap2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hyperphosphatasia-Intellectual Disability Syndrome		Bifid uvula, Plagiocephaly, Downturned corners of mouth, Anteriorly placed anus, Tented upper lip...	ORPHA:247262
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3		Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Wide mouth, Cleft palate	OMIM:614207

The table below shows human diseases predicted to be associated to Pgap2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
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
Familial Median Cleft Of The Upper And Lower Lips	Diastema, Cleft upper lip, Irregular dentition, Cleft lower lip, Median cleft upper lip, Fusion o...	ORPHA:401942
Syngnathia	Cleft palate	OMIM:119550
Orofacial Cleft 14	Median cleft upper lip	OMIM:615892
Parietal Foramina 1	Parietal foramina, Cleft palate, Encephalocele, Cleft upper lip	OMIM:168500
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Anencephaly 2	Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anencephaly	OMIM:619452
Isolated Dandy-Walker Malformation	Prominent occiput, Encephalocele, Platybasia, Frontal bossing, Cleft palate	ORPHA:217
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip	OMIM:137215
Thomas Syndrome	Dolichocephaly, Cleft palate, Cleft upper lip	ORPHA:3316
Choanal Atresia And Lymphedema	Pericardial effusion, High palate, Lymphedema	OMIM:613611
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft palate, Cleft upper lip	OMIM:600251
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric...	OMIM:618773
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Holzgreve Syndrome	Cleft palate, Cleft upper lip	OMIM:236110
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Downturned corners of mouth, Ectopic anus, Short philtrum, Cleft palate	ORPHA:94066
Meckel Syndrome, Type 8	Occipital encephalocele, Cleft upper lip, Encephalocele, Anophthalmia, Microphthalmia, Pericardia...	OMIM:613885
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Gombo Syndrome	Abnormal heart morphology, Microphthalmia	OMIM:233270
Disorganization, Mouse, Homolog Of	Cleft palate, Cleft upper lip	OMIM:223200
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Mmep Syndrome	Microphthalmia, Orofacial cleft, Median cleft upper lip, Ventricular septal defect	ORPHA:3434
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Kleefstra Syndrome 2	Bifid uvula, Plagiocephaly, Everted lower lip vermilion	OMIM:617768
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Frontal bossing, Cleft palate, Pierre-Robin sequence	OMIM:311895
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of the upper lip, Cleft palate	ORPHA:2476
Diprosopus	Anencephaly, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1681
Cleft Lip-Retinopathy Syndrome	Non-midline cleft of the upper lip	ORPHA:1995
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Dental crowding, Frontal bossing	OMIM:619264
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly, Intestinal malrotation, Orofacial cleft, Deep philtrum, Incomplete cleft of the up...	ORPHA:77300
Pierre Robin Syndrome	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
X-Linked Intellectual Disability, Siderius Type	Orofacial cleft, Cleft upper lip	ORPHA:85287
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Pierre Robin Syndrome And Oligodactyly	Cleft palate, Pierre-Robin sequence	OMIM:172880
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Plagiocephaly, Brachycephaly, High palate, Dolichocephaly, Short philtrum	OMIM:615433
Fryns Microphthalmia Syndrome	Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate	OMIM:600776
Adenylosuccinate Lyase Deficiency	Long philtrum, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Flat occiput	ORPHA:46
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Long philtrum, Unilambdoid synostosis, Brachycephaly, Hydrocephalus, Broad philtrum	OMIM:618577
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Cleft upper lip	OMIM:120433
Cleft Palate-Lateral Synechia Syndrome	Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia	ORPHA:2016
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Thick upper lip vermilion, Brachycephaly, Wide mouth, Thick lower lip vermilion	OMIM:309545
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Non-midline cleft of the upper lip	ORPHA:2007
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Tessier cleft, Brachyturricephaly, Cleft upper lip, Ethmoidal encephalocele,...	OMIM:607597
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Cleft upper lip, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft l...	OMIM:601357
Developmental And Epileptic Encephalopathy 65	Plagiocephaly, Tented upper lip vermilion	OMIM:618008
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Lip pit, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1072
Hydrops Fetalis	Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni...	ORPHA:1041
Craniosynostosis 6	Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal...	OMIM:616602
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Tooth malposition, Plagiocephaly, Brachycephaly, High palate, Cleft palate	OMIM:618603
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Plagiocephaly, Frontal bossing, Oligodontia	OMIM:618330
Cleft Palate, Isolated	Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly, Thick vermilion border	OMIM:619927
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Long philtrum, Thin upper lip vermilion, Pericardial effusion, Upturned corners of mouth, Wide mouth	OMIM:614684
Meckel Syndrome, Type 5	Cleft palate, Occipital encephalocele, Cleft upper lip, Anencephaly	OMIM:611561
Cerebrooculofacioskeletal Syndrome 3	Arthrogryposis multiplex congenita, Cleft palate, Edema, Microphthalmia	OMIM:616570
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Bifid uvula, Cleft lip, Plagiocephaly, Downturned corners of mouth, Long philtrum, Narrow mouth, ...	OMIM:618089
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Cantu Syndrome	Congenital hypertrophy of left ventricle, Long philtrum, Lymphedema, Umbilical hernia, Thick uppe...	OMIM:239850
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Anophthalmia, Congenital diaphragmatic hernia, Neonatal death, Ventricul...	OMIM:615524
2q33.1 deletion syndrome	High palate, Cleft palate	DECIPHER:51
Cebalid Syndrome	Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly, High palate	OMIM:618774
Xk Aprosencephaly Syndrome	Narrow mouth, Ventricular septal defect, Atrial septal defect, Microphthalmia, Polyhydramnios	ORPHA:3469
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Craniosynostosis, Cleft palate	OMIM:618265
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Microphthalmia, Syndromic 8	Orofacial cleft, Cleft palate, Widely-spaced maxillary central incisors, Cleft upper lip	OMIM:601349
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
6Q25 Microdeletion Syndrome	High palate, Plagiocephaly, Long philtrum, Cleft palate	ORPHA:251056
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Plagiocephaly, Downturned corners of mouth, Prominent occiput, Brachycephaly, Dolichocephaly, Sho...	OMIM:618672
Faciocardiorenal Syndrome	Plagiocephaly, Narrow mouth, Smooth philtrum, Hypodontia, Cleft palate	ORPHA:1973
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Pericardia...	OMIM:614702
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Hydrocephalus, Cleft palate	OMIM:258320
Congenital Pulmonary Lymphangiectasia	Ascites, Pleural effusion, Hydrops fetalis, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Split hand/foot malformation 1 (SHFM1)	Median cleft upper lip, Cleft palate	DECIPHER:46
Coffin-Siris Syndrome 6	High, narrow palate, Plagiocephaly, Deep philtrum, Short philtrum, Frontal bossing, Cleft palate	OMIM:617808
Schisis Association	Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal atresia, Anenc...	ORPHA:63862
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft of the upper lip, Cleft palate	ORPHA:85273
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate	ORPHA:1484
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Tented upper lip vermilion, Long philtrum	OMIM:619972
Hartsfield Syndrome	Non-midline cleft of the upper lip, Encephalocele, Craniosynostosis, Lobar holoprosencephaly, Cle...	ORPHA:2117
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Plagiocephaly, Frontal bossing, Open mouth, Brachycephaly, Everted lower lip vermilion, Macroglos...	OMIM:616789
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly, Downturned corners of mouth, Tooth agenesis, Macrodontia, Short philtrum	OMIM:618731
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia, Atrial septal defect, Ventricular septal defect	OMIM:615297
Intellectual Developmental Disorder, Autosomal Recessive 38	Narrow palate, Plagiocephaly	OMIM:615516
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Congenital Heart Block	Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, Patent foramen ovale, Peripheral e...	ORPHA:60041
Muenke Syndrome	High, narrow palate, Coronal craniosynostosis, Plagiocephaly, Brachycephaly, Hydrocephalus	ORPHA:53271
Unilateral Ocular Duplication	Frontal bossing, Encephalocele, Median cleft upper lip, Dolichocephaly, Midline facial cleft, Cle...	ORPHA:3374
Acalvaria	Calvarial skull defect, Spina bifida, Hydrocephalus, Holoprosencephaly, Cleft palate	ORPHA:945
Band Heterotopia	Plagiocephaly, Hydrocephalus	OMIM:600348
Lessel-Kreienkamp Syndrome	Plagiocephaly, Dental malocclusion, Scaphocephaly, Open mouth, Thin upper lip vermilion, Frontal ...	OMIM:619149
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Umbilical hernia, Open mouth, Tented upper lip vermilion, Thin upper lip vermilion...	OMIM:616579
Craniofrontonasal Dysplasia	Abnormality of the dentition, Plagiocephaly, Orofacial cleft, Brachycephaly, Craniosynostosis, Hi...	ORPHA:1520
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Open mouth, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Short philtr...	OMIM:616801
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly, Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate	OMIM:605282
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Thin upper lip vermilion, Brachycephaly, High palate, Plagiocephaly	OMIM:618862
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Dental malocclusion, Brachycephaly, High palate, Cloverl...	OMIM:602849
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Anophthalmia, Orofacial cleft, Microphthalmia, Holoprosencephaly	OMIM:611638
Pai Syndrome	Bifid uvula, Encephalocele, Median cleft upper lip, Abnormal oral frenulum morphology, Cleft palate	ORPHA:1993
Rhizomelic Limb Shortening With Dysmorphic Features	Smooth philtrum, Plagiocephaly, Long philtrum	OMIM:618821
Genitopalatocardiac Syndrome	Cleft upper lip, Ventricular septal defect, Transposition of the great arteries, Double outlet ri...	OMIM:231060
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Bifid uvula, Cleft upper lip, Brachycephaly, Cleft palate	OMIM:300958
Congenital Muscular Dystrophy, Fukuyama Type	Dolichocephaly, Brachycephaly, Plagiocephaly, Hydrocephalus	ORPHA:272
Gómez-López-Hernández Syndrome	Thin vermilion border, Brachycephaly, Hydrocephalus, Turricephaly	ORPHA:1532
Focal Facial Dermal Dysplasia Type Iv	Cleft palate, Hydrocephalus, Cleft upper lip	ORPHA:398189
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Plagiocephaly, Downturned corners of mouth, Long philtrum, Frontal bossing, Open mouth, Narrow mo...	OMIM:619720
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Carious teeth, Downturned corners of mouth, Multiple muscular ventricular septal defects, Polyhyd...	OMIM:620070
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Plagiocephaly, Downturned corners of mouth, Tented upper lip vermilion, Open mouth, Thin upper li...	OMIM:618430
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Narrow palate, Plagiocephaly	OMIM:617481
Developmental And Epileptic Encephalopathy 110	High palate, Tented upper lip vermilion, Posterior plagiocephaly	OMIM:620149
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft upper lip, Bifid uvula, High palate	OMIM:155145
Blepharocheilodontic Syndrome 1	Conical tooth, Cleft upper lip, Hypodontia, Anal atresia, Neural tube defect	OMIM:119580
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites...	OMIM:115197
Parc Syndrome	Cleft palate	OMIM:600331
Orofaciodigital Syndrome Viii	Median cleft upper lip, High palate, Cleft palate	OMIM:300484
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly, Downturned corners of mouth, Cleft upper lip, Anteriorly placed anus, Abnormal rec...	OMIM:239300
Chromosome 1Q41-Q42 Deletion Syndrome	Cleft upper lip, Widely spaced teeth, Trigonocephaly, Tented upper lip vermilion, Thin upper lip ...	OMIM:612530
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Plagiocephaly, Tented upper lip vermilion, Anterior plagiocephaly, Aganglionic meg...	OMIM:614749
Enlarged Parietal Foramina	Cleft lip, Occipital encephalocele, Parietal foramina, Myelomeningocele, Craniosynostosis, Cleft ...	ORPHA:60015
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Cleft palate	ORPHA:2736
Craniofacial Microsomia 2	Bifid uvula, Dermal sinus tract, Submucous cleft palate	OMIM:620444
Charlie M Syndrome	Tooth agenesis, Narrow mouth, Thin vermilion border, Short philtrum, Non-midline cleft of the upp...	ORPHA:1406
Weaver-Williams Syndrome	Narrow mouth, Cleft palate	ORPHA:3448
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Abnormality of the dentition, Microphthalmia	OMIM:251700
Keratoconus Posticus Circumscriptus	Cleft palate, Cleft upper lip	OMIM:244600
Clark-Baraitser Syndrome	Downturned corners of mouth, Long philtrum, Exaggerated cupid's bow, Thin upper lip vermilion, Sh...	OMIM:617752
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Cleft lip, Myofiber disarray, Polyhydramnios, Patent foramen ovale, Ventr...	OMIM:620519
Adducted Thumbs Syndrome	High, narrow palate, Velopharyngeal insufficiency, Craniosynostosis, High palate, Cleft palate	OMIM:201550
Intellectual Developmental Disorder, Autosomal Recessive 13	Smooth philtrum, Short philtrum, Downturned corners of mouth, Cleft upper lip	OMIM:613192
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Anophthalmia Plus Syndrome	Tessier cleft, Bilateral cleft palate, Spina bifida, Non-midline cleft of the upper lip, Cleft pa...	ORPHA:1104
Holoprosencephaly 4	Median cleft upper lip, Semilobar holoprosencephaly, Median cleft palate	OMIM:142946
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Microcephaly-Microcornea Syndrome, Seemanova Type	Brachycephaly, High palate, Narrow mouth	ORPHA:2528
Houge-Janssens Syndrome 2	Tented upper lip vermilion, Plagiocephaly, Open mouth, Hydrocephalus	OMIM:616362
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly, Tooth agenesis, Abnormal palate morphology, Multiple unerupted teeth, Anal atresia...	ORPHA:2063
Chromosome 15Q14 Deletion Syndrome	Cleft lip, Tented upper lip vermilion, Everted lower lip vermilion, Short philtrum, Cleft palate	OMIM:616898
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly, Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion b...	OMIM:618106
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Thin upper lip vermilion, Brachycephaly, Craniosynostosis, High palate, Frontal bossing, Pyloric ...	ORPHA:314575
Congenital Disorder Of Glycosylation, Type Il	Long philtrum, Ascites, Atrial septal defect, Pericardial effusion, Hydrops fetalis, Wide mouth	OMIM:608776
Bresek Syndrome	Aganglionic megacolon, Plagiocephaly, Hydrocephalus, Cleft palate	ORPHA:85284
Hemifacial Microsomia With Radial Defects	Orofacial cleft, Cleft palate, Non-midline cleft of the upper lip, Short mandibular rami	OMIM:141400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Plagiocephaly, Downturned corners of mouth, Widely spaced teeth, Umbilical hernia, Open mouth, Br...	ORPHA:369891
Houge-Janssens Syndrome 3	Plagiocephaly, Umbilical hernia, High palate, Short philtrum, Frontal bossing	OMIM:618354
Bifid Uvula	Bifid uvula, Cleft lip, Submucous cleft soft palate	ORPHA:99771
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Long philtrum, Abnormal heart valve morphology, Gingiv...	ORPHA:363705
Joubert Syndrome 26	Cleft lip, Frontal bossing, Cleft palate	OMIM:616784
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Cardiomyopathy, Calf muscle hypertrophy, Hydrocephalus, Microphthalmia, Macro...	OMIM:613155
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Downturned corners of mouth, Long philtrum, Anterior plagiocephaly, Brachycephaly, High palate, F...	ORPHA:163649
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Frontal bossing, Abnormal dental enam...	ORPHA:85199
Weyers Ulnar Ray/Oligodactyly Syndrome	Solitary median maxillary central incisor, High palate, Cleft palate, Cleft upper lip	OMIM:602418
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Plagiocephaly, Downturned corners of mouth, Thick upper lip vermilion, Prominent occiput, Narrow ...	OMIM:617360
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Plagiocephaly, Long philtrum, Brachycephaly, Dolichocephaly, Frontal bossing	OMIM:619721
Frontonasal Dysplasia 1	Cranium bifidum occultum, Joint contracture of the hand, Anterior basal encephalocele, Tetralogy ...	OMIM:136760
Malan Overgrowth Syndrome	Plagiocephaly, Scaphocephaly, Narrow mouth, High palate, Frontal bossing	ORPHA:420179
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Periorbital edema, Narrow palate, Joint contracture of the hand, Delayed eruption of teeth, Lymph...	OMIM:235510
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft palate, Cleft upper lip	OMIM:214300
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, Thin upper lip vermilion, Smooth philtrum, Short philtrum, High palate	OMIM:619188
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Median cleft palate, Microphthalmia	ORPHA:2432
Osteogenesis Imperfecta, Type Xx	Plagiocephaly, Agenesis of permanent teeth, Tented upper lip vermilion, Brachycephaly, High palat...	OMIM:618644
Blepharophimosis-Impaired Intellectual Development Syndrome	Plagiocephaly, Dental malocclusion, Widely spaced teeth, Frontal bossing, Exaggerated cupid's bow...	OMIM:619293
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef...	OMIM:619313
Non-Distal Duplication 10Q	Brachycephaly, High palate, Frontal bossing, Everted lower lip vermilion	ORPHA:1695
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Anasarca, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, A...	OMIM:261740
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Trigonocephaly, Cleft palate	ORPHA:1779
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Brachycephaly, Occipital encephalocele	OMIM:614416
Summitt Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:3210
Short Stature And Facioauriculothoracic Malformations	High palate, Cleft palate, Cleft upper lip	OMIM:609654
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Cleft upper lip, Brachycephaly, Cleft palate	OMIM:268850
Autosomal Recessive Amelia	Polyhydramnios, Orofacial cleft, Non-midline cleft of the upper lip, Abnormal cardiac septum morp...	ORPHA:1027
Intellectual Disability, Wolff Type	Abnormal intestine morphology, Orofacial cleft, Non-midline cleft of the upper lip, Thick lower l...	ORPHA:3080
Lowry-Maclean Syndrome	Craniosynostosis, Delayed eruption of teeth, Cleft palate	OMIM:600252
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Bifid uvula, Cleft upper lip, Tetralogy of Fallot, Mitral valve prolapse...	OMIM:612561
Zechi-Ceide Syndrome	Cleft upper lip, Cleft palate, Oligodontia	OMIM:612916
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Bilateral cleft palate, Non-midline cleft of the upper lip, Tooth agenesis	ORPHA:2003
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Tented upper lip vermilion, Thin upper lip vermilion, Smooth philtrum, Short philt...	ORPHA:371364
Trisomy 20P	Abnormality of the dentition, Plagiocephaly, Downturned corners of mouth, Umbilical hernia, Abnor...	ORPHA:261318
17Q12 Microduplication Syndrome	Polyhydramnios, Atrial septal defect, Cleft palate, Microphthalmia	ORPHA:261272
Ritscher-Schinzel Syndrome 4	Narrow palate, Plagiocephaly, Thick vermilion border, Brachycephaly, High palate, Short philtrum,...	OMIM:619435
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Tented upper lip vermilion, Exaggerated cupid's bow, Deep philtrum, Hydrocephalus,...	OMIM:619833
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Phenobarbital Embryopathy	Tetralogy of Fallot, Unilateral cleft lip, Abnormal mitral valve morphology	ORPHA:1919
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Aica-Ribosiduria	Thin upper lip vermilion, Brachycephaly, Wide mouth	ORPHA:250977
Potocki-Shaffer Syndrome	Downturned corners of mouth, Parietal foramina, Turricephaly, Brachycephaly, Short philtrum	OMIM:601224
Pallister-Hall-Like Syndrome	Microglossia, Occipital encephalocele, Median cleft upper lip, Hydrocephalus, Cleft palate	OMIM:241800
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Plagiocephaly, Long philtrum, Tented upper lip vermilion, Thick vermilion border, High palate, Fl...	OMIM:619383
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Muscular dystrophy, Occipital encephalocele, Orofacial cleft, Hydrocephalus, Microphthalmia	ORPHA:324416
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Microphthalmia, Me...	OMIM:611134
Craniosynostosis 2	Unicoronal synostosis, Trigonocephaly, Cleft soft palate, Bicoronal synostosis, Turricephaly, Bra...	OMIM:604757
Distal Monosomy 7Q36	Abnormal calvaria morphology, Holoprosencephaly, Wide mouth, Non-midline cleft of the upper lip, ...	ORPHA:1636
Burn-Mckeown Syndrome	Bifid uvula, Cleft upper lip, Narrow mouth, Thin vermilion border, Short philtrum, Cleft palate	OMIM:608572
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Smoot...	OMIM:618652
Congenital Toxoplasmosis	Cardiomegaly, Hydrocephalus, Ascites, Microphthalmia	ORPHA:858
Fg Syndrome Type 1	Abnormal large intestine morphology, Dental crowding, Plagiocephaly, Long philtrum, Umbilical her...	ORPHA:93932
Neurogenic Arthrogryposis Multiplex Congenita	Scaphocephaly, Plagiocephaly	ORPHA:1143
Pentasomy X	Plagiocephaly	ORPHA:11
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Plagiocephaly, Dental crowding, Brachycephaly, Short philtrum, Frontal bossing	OMIM:617296
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome	Deep philtrum, Tented upper lip vermilion, Frontal bossing	ORPHA:2104
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly	OMIM:614563
Aarskog-Scott Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Cleft upper lip, Umbilica...	ORPHA:915
Kleefstra Syndrome Due To A Point Mutation	Abnormality of the dentition, Plagiocephaly, Natal tooth, Umbilical hernia, Thick lower lip vermi...	ORPHA:261652
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Downturned corners of mouth, Intestinal malrotation, Thin upper lip vermilion, Cra...	ORPHA:457193
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, High palate, Skeletal muscle atrophy, Cardiomyopathy	OMIM:620089
Hyperphosphatasia-Intellectual Disability Syndrome	Bifid uvula, Plagiocephaly, Downturned corners of mouth, Anteriorly placed anus, Tented upper lip...	ORPHA:247262
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Cleft upper lip, Narrow mouth, Cleft palate	OMIM:239800
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip	OMIM:616994
Multiple Pterygium Syndrome, X-Linked	Edema, Cleft upper lip, Hypoplastic heart, Amyoplasia, Polyhydramnios, Flexion contracture, Cleft...	OMIM:312150
Frontonasal Dysplasia 2	Conical tooth, Parietal foramina, Widely spaced teeth, Tessier number 13 facial cleft, Calvarial ...	OMIM:613451
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Long philtrum, Tetralogy of Fallot, Congenital diaphragmatic hernia, Atr...	OMIM:300887
Alkuraya-Kucinskas Syndrome	Pleural effusion, Camptodactyly, Hydrocephalus, Pericardial effusion, High palate, Arthrogryposis...	OMIM:617822
Holoprosencephaly-Caudal Dysgenesis Syndrome	Median cleft upper lip, Holoprosencephaly, Cleft palate	ORPHA:2165
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Smooth philtrum, Hydrocephalus, Ventricular septal defect	OMIM:602501
2Q24 Microdeletion Syndrome	Camptodactyly of finger, Abnormal oral frenulum morphology, Microphthalmia, Short philtrum, Cleft...	ORPHA:1617
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Craniosynostosis, Brachycephaly	ORPHA:178377
Isotretinoin Syndrome	Spina bifida occulta, Biparietal narrowing, Cleft palate	ORPHA:2305
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Plagiocephaly, Umbilical hernia, Turricephaly, Short philtrum, Brachycephaly...	OMIM:613776
Chopra-Amiel-Gordon Syndrome	Cleft lip, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Short philtrum, Cleft palate...	OMIM:619504
Intellectual Developmental Disorder, Autosomal Dominant 48	Plagiocephaly, Open mouth, Umbilical hernia	OMIM:617751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Muscular dystrophy, Hydrocephalus, Microphthalmia	OMIM:614830
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i...	ORPHA:199306
Waardenburg Syndrome Type 1	Cleft upper lip, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Meningocele, Cl...	ORPHA:894
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Deep philtrum, Downturned corners of mouth	OMIM:618859
Developmental And Epileptic Encephalopathy 84	Smooth philtrum, Plagiocephaly, Thick lower lip vermilion	OMIM:618792
Congenital Enterovirus Infection	Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrops fetalis, Pe...	ORPHA:292
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Plagiocephaly, Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Spina ...	OMIM:619227
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Plagiocephaly, Downturned corners of mouth, Submucous cleft hard palate	OMIM:619680
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Abnormal dental enamel morphology, Macrodontia, Hypodontia, Cleft palate	ORPHA:2916
Juberg-Hayward Syndrome	Anteriorly placed anus, Cleft upper lip	OMIM:216100
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Cleft palate	OMIM:612370
Noonan Syndrome 13	Plagiocephaly, Long philtrum, Widely spaced teeth, Microdontia, High palate, Wide mouth, U-Shaped...	OMIM:619087
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Brachycephaly, Holoprosencephaly, Plagiocephaly	ORPHA:2163
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Plagiocephaly, Dental crowding, Long philtrum, Cleft upper lip, Int...	OMIM:305450
Hypocomplementemic Urticarial Vasculitis	Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Pericardial effusion	ORPHA:36412
Trisomy 8Q	Myelomeningocele, Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion...	ORPHA:1752
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Open mouth, Umbilical hernia	ORPHA:500159
Pierpont Syndrome	Widely spaced teeth, Thin upper lip vermilion, Smooth philtrum, Everted lower lip vermilion, Long...	ORPHA:487825
Chromosome 6Pter-P24 Deletion Syndrome	Dental crowding, Cleft upper lip, Umbilical hernia, Abnormal dental morphology, Narrow mouth, Ten...	OMIM:612582
Triploidy	Wide mouth, Narrow mouth, Hydrocephalus, Abnormal cardiac septum morphology, Polyhydramnios, Macr...	ORPHA:3376
Hydrolethalus	Bifid uvula, Gingival cleft, Unilateral cleft lip, Anophthalmia, Submucous cleft hard palate, Hyd...	ORPHA:2189
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Plagiocephaly, Downturned corners of mouth, Long philtrum, Microdontia, Thin upper lip vermilion,...	OMIM:610759
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Cleft upper lip, Lymphedema, Tetralogy of Fallo...	OMIM:153400
Raine Syndrome	Plagiocephaly, Natal tooth, Brachyturricephaly, Gingival overgrowth, Narrow mouth, Protruding ton...	OMIM:259775
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Plagiocephaly, Long philtrum, Submucous cleft hard palate, Thin upper lip vermilion, Dolichocepha...	ORPHA:457279
Cardiomyopathy, Dilated, 1A	Pericardial effusion, Dilated cardiomyopathy	OMIM:115200
Developmental And Epileptic Encephalopathy 1	Plagiocephaly	OMIM:308350
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Unilateral cleft lip, Frontal bossing, Med...	OMIM:610828
Opitz Gbbb Syndrome	Unilateral cleft lip, Cleft upper lip, Umbilical hernia, Rectourethral fistula, Thin upper lip ve...	OMIM:300000
Holoprosencephaly 11	Holoprosencephaly, Cleft lip, Cleft palate	OMIM:614226
Vulto-Van Silfhout-De Vries Syndrome	Thick lower lip vermilion, Tented upper lip vermilion, Brachycephaly, High palate, Frontal bossing	OMIM:615828
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Brachycephaly, Hydrocephalus	OMIM:612247
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft palate, Cleft upper lip	OMIM:244200
Acrocallosal Syndrome	Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl...	OMIM:200990
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Downturned corners of mouth, Long philtrum, Narrow mouth, Exaggerated cupid's bow,...	ORPHA:2215
Trisomy 13	High, narrow palate, Abnormality of the dentition, Long philtrum, Anophthalmia, Aplasia/Hypoplasi...	ORPHA:3378
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Long philtrum, Abnormal heart morphology, Oligohydramnios, Increased nuchal ...	OMIM:618494
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Cleft upper lip, Tented upper lip vermilion, Ventricular septal de...	OMIM:600987
Potocki-Shaffer Syndrome	Brachycephaly, Short philtrum, Downturned corners of mouth, Parietal foramina	ORPHA:52022
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Acromelic Frontonasal Dysplasia	Median cleft palate, Encephalocele, Median cleft upper lip, Brachycephaly, Meningocele, Wide mouth	ORPHA:1827
Orofaciodigital Syndrome V	Bifid uvula, Hamartoma of tongue, Ankyloglossia, Thin upper lip vermilion, Median cleft upper lip...	OMIM:174300
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis	ORPHA:231111
Prune1-Related Neurological Syndrome	Plagiocephaly	ORPHA:544469
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Baraitser-Winter Syndrome 1	Long philtrum, Cleft upper lip, Trigonocephaly, Thin upper lip vermilion, Orofacial cleft, Wide m...	OMIM:243310
Oculomaxillofacial Dysostosis	Median cleft upper lip, Abnormality of the dentition, Cleft palate, Tessier cleft	ORPHA:1794
Bartsocas-Papas Syndrome 2	Bilateral cleft lip, Prominent occiput, Accessory oral frenulum, Bilateral cleft palate	OMIM:619339
Pseudotrisomy 13 Syndrome	Cleft upper lip, Median cleft palate, Complete atrioventricular canal defect, Encephalocele, Vent...	OMIM:264480
Primary Intestinal Lymphangiectasia	Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Edema	ORPHA:90362
Orofaciodigital Syndrome Ix	Abnormality of the dentition, Median cleft upper lip, High palate, Cleft palate, Accessory oral f...	OMIM:258865
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Encephalocele, Hydrocephalus, Meningocele, Holoprosencephaly, Anencephaly, Non...	ORPHA:1908
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Neonatal death, Ventricular septal defect	OMIM:613730
Pediatric Systemic Lupus Erythematosus	Ascites, Pleural effusion, Oral ulcer, Myositis, Pericardial effusion, Edema	ORPHA:93552
Dystonia-Deafness Syndrome 1	Cleft upper lip, Cleft palate	OMIM:607371
Frontofacionasal Dysplasia	Tessier cleft, Encephalocele, Brachycephaly, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1791
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion, Stomatitis	OMIM:613011
2Q32Q33 Microdeletion Syndrome	Dental crowding, Long philtrum, Narrow mouth, Oligodontia, Brachycephaly, Thin vermilion border, ...	ORPHA:251019
Acrofrontofacionasal Dysostosis	Brachycephaly, Everted lower lip vermilion, High palate, Non-midline cleft of the upper lip, Clef...	ORPHA:1784
Nanophthalmos	Microphthalmia	ORPHA:35612
Solitary Median Maxillary Central Incisor	Cleft upper lip, Prominent median palatal raphe, Solitary median maxillary central incisor, Torus...	OMIM:147250
Cerebrooculonasal Syndrome	Tessier cleft, Long philtrum, Widely spaced teeth, Microdontia, Solitary median maxillary central...	ORPHA:66625
Frontonasal Dysplasia 3	Tessier cleft, Brachycephaly, Cleft palate	OMIM:613456
Alpha-Thalassemia	Pericardial effusion, Generalized edema, Hydrops fetalis, Pleural effusion	ORPHA:846
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft palate, Cleft upper lip	OMIM:601076
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Robinow-Sorauf Syndrome	Craniosynostosis, Plagiocephaly, Pansynostosis	OMIM:180750
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate	OMIM:612284
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Short philtrum, Downturned corners of mouth, Ventricular septal defect	ORPHA:93267
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly	OMIM:619910
8Q12 Microduplication Syndrome	Brachycephaly, Narrow mouth, Everted lower lip vermilion, Long philtrum	ORPHA:228399
Thoracoabdominal Syndrome	Cleft palate, Hydrocephalus, Cleft upper lip, Anencephaly	OMIM:313850
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Microdontia, Thin upper lip vermilion, Smooth philtrum, Atrial s...	ORPHA:1915
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cleft upper lip, Cleft palate, Tooth agenesis	OMIM:147950
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Pericardial effusion, Muscular dystrophy, Dilated cardiomyopathy, Abnormal myocardium morphology	ORPHA:300751
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Smith-Magenis Syndrome	Cleft upper lip, Open mouth, Tented upper lip vermilion, Delayed eruption of primary teeth, Tauro...	ORPHA:819
Pierpont Syndrome	Widely spaced teeth, Prominent median palatal raphe, Smooth philtrum, Everted lower lip vermilion...	OMIM:602342
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, High palate, Oligohydramnios, Microphthalmia	OMIM:619053
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Umbilical hernia, Abnormality of the philtrum, Biparietal narrowing, Non-midline cleft of the upp...	ORPHA:1770
Acute Interstitial Pneumonia	Pericardial effusion, Peripheral edema, Pleural effusion	ORPHA:79126
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Pericardial effusion, Ventricular septal defect	OMIM:618775
Isolated Cleft Lip	Velopharyngeal insufficiency, Umbilical hernia, Macrodontia, Supernumerary maxillary incisor, Sit...	ORPHA:199302
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cleft lip, Cleft upper lip, Microdontia, Anodontia, Hypodontia, Abnormality of the philtrum, Clef...	OMIM:225060
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Flexio...	ORPHA:2712
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Furrowed tongue, Brachycephaly, Everted lower lip vermilion, High palate, Shor...	ORPHA:1387
Intellectual Disability-Strabismus Syndrome	Abnormality of the dentition, Plagiocephaly, Thick vermilion border, High palate, Wide mouth	ORPHA:363528
Au-Kline Syndrome	Bifid uvula, Plagiocephaly, Dental malocclusion, Downturned corners of mouth, Open mouth, Oligodo...	OMIM:616580
Heart And Brain Malformation Syndrome	High, narrow palate, Cleft lip, Thick lower lip vermilion, Camptodactyly of finger, Ventricular s...	OMIM:616920
Joubert Syndrome 15	Exencephaly	OMIM:614464
Hennekam Syndrome	Abnormal oral mucosa morphology, Chylothorax, Delayed eruption of teeth, Lymphedema, Ascites, Too...	ORPHA:2136
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Smooth philtrum, Atrial septal defect, Microphthalmia, Facial hypotonia	OMIM:614526
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Cleft palate	OMIM:614120
Cofs Syndrome	Arthrogryposis multiplex congenita, Everted lower lip vermilion, Camptodactyly of finger, Microph...	ORPHA:1466
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Cleft palate	OMIM:217150
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Turricephaly, Aganglionic megacolon, Hydrocephalus, Short philtrum, Frontal bossing	OMIM:613603
Monosomy 18P	Tooth malposition, Carious teeth, Downturned corners of mouth, Lymphedema, Hypodontia, Microphtha...	ORPHA:1598
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Chromosome 15Q11.2 Deletion Syndrome	Smooth philtrum, Plagiocephaly, Irregular dentition, Cleft palate	OMIM:615656
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Abnormality of the dentition, Conical tooth, Coronal craniosynostosis, Calvarial skull defect, En...	ORPHA:228390
Naxos Disease	Cleft upper lip	ORPHA:34217
Intellectual Developmental Disorder, Autosomal Dominant 26	Umbilical hernia, Narrow mouth, Brachycephaly, Deep philtrum, Thick vermilion border, Short philt...	OMIM:615834
Orofaciodigital Syndrome I	Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis of permanent teeth, ...	OMIM:311200
Blepharonasofacial Malformation Syndrome	Long philtrum, Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1252
Pentalogy Of Cantrell	Tetralogy of Fallot, Abnormal pericardium morphology, Encephalocele, Congenital diaphragmatic her...	ORPHA:1335
Pontocerebellar Hypoplasia, Type 3	High, narrow palate, Downturned corners of mouth, Long philtrum, Brachycephaly, High palate	OMIM:608027
Nanophthalmos 4	Microphthalmia	OMIM:615972
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen ovale, Ventricular septal...	ORPHA:26793
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Plagiocephaly, Downturned corners of mouth, Furrowed tongue, Open mouth, Branchial a...	ORPHA:453499
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Diastema, Bicoronal synostosis, Agenesis of molar, Anterior plagiocephaly, Microdontia, Supernume...	OMIM:619718
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia	ORPHA:1528
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly	ORPHA:96190
Otodental Syndrome	Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo...	ORPHA:2791
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Pulmonary edema, Pleural effusion, Pedal edema	ORPHA:199241
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Aminopterin Syndrome Sine Aminopterin	Umbilical hernia, Oligodontia, Brachycephaly, High palate, Frontal bossing, Cleft palate	OMIM:600325
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Congenital Disorder Of Glycosylation, Type Ia	Cardiomyopathy, Nonimmune hydrops fetalis, Thin upper lip vermilion, Pericardial effusion, Flexio...	OMIM:212065
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Downturned corners of mouth, Long philtrum, Abnormal heart morphology, Ventricular s...	ORPHA:404440
Spondylo-Ocular Syndrome	Long philtrum, Facial hypotonia, Ventricular septal defect, Aplasia/Hypoplasia of the lens, Micro...	ORPHA:85194
Diaphanospondylodysostosis	Myelomeningocele, Cleft palate	ORPHA:66637
Glycosylphosphatidylinositol Biosynthesis Defect 11	Macroglossia, High palate, Tented upper lip vermilion, Umbilical hernia	OMIM:616025
Arthrogryposis And Ectodermal Dysplasia	Cleft upper lip, Abnormal dental enamel morphology, Oligodontia, Orofacial cleft, Brachycephaly, ...	OMIM:601701
Treacher-Collins Syndrome	Tessier cleft, Abnormality of the dentition, Branchial fistula, Cleft upper lip, Tooth agenesis, ...	ORPHA:861
Intellectual Developmental Disorder, Autosomal Dominant 23	Dental crowding, Downturned corners of mouth, Long philtrum, Thin upper lip vermilion, Smooth phi...	OMIM:615761
Saethre-Chotzen Syndrome	Plagiocephaly, Open bite, Brachycephaly, Craniosynostosis, Narrow palate, Cleft palate	ORPHA:794
Aicardi-Goutieres Syndrome 9	Lower limb hypertonia, Ascites, Left ventricular hypertrophy, Pericardial effusion, Edema, Perica...	OMIM:619487
Constricting Bands, Congenital	Tessier cleft, Cleft palate, Encephalocele, Cleft upper lip	OMIM:217100
Oculocerebrocutaneous Syndrome	Cleft palate, Orbital encephalocele, Anophthalmia, Microphthalmia	OMIM:164180
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Cranial asymmetry, Long philtrum, Thick lower lip vermilion	ORPHA:137634
Acropectorovertebral Dysplasia	High, narrow palate, Spina bifida, Cleft palate	ORPHA:957
Branchio-Oculo-Facial Syndrome	Upper lip pit, Tooth agenesis, Microdontia, Orofacial cleft, Deep philtrum, Everted lower lip ver...	ORPHA:1297
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Bifid uvula, Tented upper lip vermilion, Thin upper lip vermilion, Bilateral cleft lip, Smooth ph...	OMIM:618622
Alg9-Cdg	Bifid uvula, Hypoplasia of the musculature, Long philtrum, Abnormal heart morphology, Oligohydram...	ORPHA:79328
16P13.11 Microdeletion Syndrome	Cleft upper lip, Exaggerated cupid's bow, Thin upper lip vermilion, Smooth philtrum, Holoprosence...	ORPHA:261236
Anauxetic Dysplasia 3	Plagiocephaly, Oligodontia	OMIM:618853
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Cleft upper lip	OMIM:273400
Orofaciodigital Syndrome Xvii	High, narrow palate, Median cleft upper lip	OMIM:617926
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Plagiocephaly, Long philtrum, Umbilical hernia, Dolichocephaly	ORPHA:1101
Fibrochondrogenesis	Plagiocephaly, Narrow mouth, Cleft palate	ORPHA:2021
Myhre Syndrome	Aortic valve stenosis, Cleft lip, Skeletal muscle hypertrophy, Narrow mouth, Ventricular septal d...	OMIM:139210
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Brachycephaly, Broad philtrum, Wide mouth, Cleft palate	ORPHA:1394
Trisomy 9P	Dental crowding, Downturned corners of mouth, Impacted tooth, Brachycephaly, Non-midline cleft of...	ORPHA:236
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle...	OMIM:214150
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Cleft lip, Plagiocephaly, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermili...	OMIM:280000
Joubert Syndrome 14	Open mouth, Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Short philtrum,...	OMIM:614424
Intellectual Developmental Disorder, Autosomal Dominant 74	Thin upper lip vermilion, Smooth philtrum, Brachycephaly	OMIM:620688
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Turricephaly, High palate, Short philtrum, Wide mouth	OMIM:620224
Oculoauriculovertebral Spectrum With Radial Defects	Atrioventricular canal defect, EMG: myopathic abnormalities, Orofacial cleft, Aplasia/Hypoplasia ...	ORPHA:2549
German Syndrome	Open mouth, Brachycephaly, Orofacial cleft, Everted lower lip vermilion, Dolichocephaly, High palate	ORPHA:2077
Diarrhea 10, Protein-Losing Enteropathy Type	Anasarca, Ascites, Polyhydramnios, Pleural effusion, Pericardial effusion	OMIM:618183
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachycephaly, Unilateral cleft lip, Flat occiput	ORPHA:2511
Frontofacionasal Dysplasia	Cranium bifidum occultum, Bifid uvula, Hypoplasia of the frontal bone, Cleft upper lip, Orofacial...	OMIM:229400
Cornelia De Lange Syndrome 2	Downturned corners of mouth, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, High palate	OMIM:300590
Distal Deletion 10P	Anal atresia, Ectopic anus, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1580
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	High palate, Tooth agenesis, Cleft palate, Microphthalmia	ORPHA:1135
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal palate morphology, Turricephaly, Brachycephaly, Hydrocephalus, Frontal bossing	ORPHA:93262
Congenital Heart Defects And Ectodermal Dysplasia	Widely spaced teeth, Premature loss of primary teeth, Microdontia, Brachycephaly, Frontal bossing	OMIM:617364
Microphthalmia With Limb Anomalies	Cleft upper lip, Deep philtrum, High palate, Frontal bossing, Cleft palate	OMIM:206920
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate, Prominent occiput	OMIM:619122
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Plagiocephaly, Narrow mouth, Exaggerated cupid's bow, Spina bifida, Thick vermilion ...	OMIM:619480
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Dental crowding, Thick vermilion border, Dolichocephaly, High palate, Frontal bossing	OMIM:619005
Holoprosencephaly 14	Cleft lip, Alobar holoprosencephaly, Proboscis, Median cleft upper lip, Hydrocephalus, Aqueductal...	OMIM:619895
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Rapp-Hodgkin Syndrome	Bifid uvula, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Cleft upper lip, Narrow ...	OMIM:129400
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Cleft palate	OMIM:601355
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly, Dental crowding	ORPHA:320385
Kapur-Toriello Syndrome	Joint contracture of the hand, Cleft upper lip, Camptodactyly of finger, Ventricular septal defec...	OMIM:244300
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Smooth philtrum, High palate, Plagiocephaly, Long philtrum	OMIM:300749
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Smooth philtrum, Brachycephaly, Tented upper lip vermilion	OMIM:620240
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
7Q31 Microdeletion Syndrome	Plagiocephaly, Wide mouth, Long philtrum	ORPHA:251061
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Long philtrum, Encephalocele, Exencephaly, Brachycephaly, Flat occiput	ORPHA:2211
Classical-Like Ehlers-Danlos Syndrome Type 2	Tooth malposition, Narrow palate, Periodontitis, Umbilical hernia, Mitral valve prolapse, Pericar...	ORPHA:536532
Hartsfield Syndrome	Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Cleft uppe...	OMIM:615465
3P25.3 Microdeletion Syndrome	High, narrow palate, Skeletal muscle atrophy, Downturned corners of mouth, Knee flexion contractu...	ORPHA:435638
Popliteal Pterygium Syndrome	Bifid uvula, Fibrous syngnathia, Cleft upper lip, Lower lip pit, Spina bifida occulta, Cleft palate	OMIM:119500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Downturned corners of mouth, Long philtrum, Thin upper lip vermilion, Smooth philtrum	OMIM:618548
Aymé-Gripp Syndrome	Plagiocephaly, Long philtrum, Narrow mouth, Oligodontia, Thin upper lip vermilion, Brachycephaly,...	ORPHA:1272
Maternal Uniparental Disomy Of Chromosome 6	Cleft upper lip, Cleft palate	ORPHA:96181
Orofaciodigital Syndrome Ii	Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Hydrocephalus, Bifi...	OMIM:252100
Cornelia De Lange Syndrome 5	Downturned corners of mouth, Long philtrum, Widely spaced teeth, Brachycephaly, Thin vermilion bo...	OMIM:300882
Stevenson-Carey Syndrome	Joint contracture of the hand, Downturned corners of mouth, Narrow mouth, Atrial septal defect, M...	OMIM:611961
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Long philtrum, Umbilical hernia, Turricephaly, Brachycephaly, Hydrocephalus, Thin vermilion borde...	ORPHA:171839
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Plagiocephaly, Long philtrum, Narrow mouth, Exaggerated cupid's bow, Brachycephaly, Hydrocephalus...	OMIM:619512
Crouzon Syndrome	Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Hydrocephalus, Narrow palate, Fron...	ORPHA:207
Trichohepatoneurodevelopmental Syndrome	Plagiocephaly, Dental crowding, Downturned corners of mouth, Widely spaced teeth, Microdontia, Br...	OMIM:618268
Fryns Syndrome	Long philtrum, Tetralogy of Fallot, Tented upper lip vermilion, Congenital diaphragmatic hernia, ...	ORPHA:2059
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Bicoronal synostosis, Brachycephaly, Spina bifida occulta, Flat occiput	OMIM:618736
Neurofaciodigitorenal Syndrome	Abnormal oral mucosa morphology, Brachycephaly, Plagiocephaly, Abnormality of the philtrum	ORPHA:2673
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, High palate, Plagiocephaly, Flat occiput	ORPHA:300570
Carey-Fineman-Ziter Syndrome 1	Microglossia, Plagiocephaly, High palate, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:254940
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly, Dental crowding	OMIM:615031
9Q33.3Q34.11 Microdeletion Syndrome	Plagiocephaly, Tented philtrum, Esophagitis, Narrow mouth, Brachycephaly, Thin vermilion border	ORPHA:495818
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Brachycephaly, Cleft palate, Turricephaly	ORPHA:2145
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, Delayed eruption of teeth, Facial hyperostosis, Submucous cleft...	ORPHA:2780
Acrofrontofacionasal Dysostosis 1	Cleft upper lip, Oligodontia, Brachycephaly, Wide mouth, Cleft palate	OMIM:201180
Chromosome 3Pter-P25 Deletion Syndrome	Downturned corners of mouth, Long philtrum, Trigonocephaly, Thin upper lip vermilion, Brachycepha...	OMIM:613792
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the dentition, Carious teeth, Cleft upper lip, Abnormal dental enamel morphology, ...	ORPHA:3253
Joubert Syndrome 1	Plagiocephaly, Occipital myelomeningocele, Triangular-shaped open mouth, Protruding tongue, Macro...	OMIM:213300
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly, Microdontia	OMIM:261990
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Long philtrum, Lymphedema, Thick lower lip vermilion, Thin upper lip vermilion, Deep philtrum, Mi...	OMIM:152950
Poems Syndrome	Pericardial effusion, Pleural effusion, Edema, Ascites	ORPHA:2905
Congenital Muscular Dystrophy With Cerebellar Involvement	Muscular dystrophy, Occipital encephalocele, Cardiomyopathy, Skeletal muscle hypertrophy, Reduced...	ORPHA:370959
Atelosteogenesis Type Ii	Plagiocephaly, Long philtrum, Bilateral cleft palate, Thin upper lip vermilion, Cleft palate	ORPHA:56304
Biemond Syndrome Type 2	Hydrocephalus, Microphthalmia	ORPHA:141333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Muscular dystrophy, Hydrocephalus, Microphthalmia	OMIM:613153
Gapo Syndrome	High, narrow palate, Plagiocephaly, Eruption failure, Long philtrum, Umbilical hernia, Thick lowe...	OMIM:230740
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Cleft palate, Submucous cleft hard palate	ORPHA:2521
Microphthalmia, Syndromic 13	Widely-spaced incisors, Microphthalmia	OMIM:300915
Emanuel Syndrome	Aortic valve stenosis, Tooth malposition, Bifid uvula, Submucous cleft lip, Dental crowding, Dela...	ORPHA:96170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Macroglossia, Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital cont...	OMIM:613150
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Narrow mouth, Microphthalmia, Flexion contracture, Optic nerve hypoplasia	OMIM:614833
Baraitser-Winter Syndrome 2	Long philtrum, Thin upper lip vermilion, Orofacial cleft, Microphthalmia, Wide mouth	OMIM:614583
3Mc Syndrome 2	Downturned corners of mouth, Cleft upper lip, Skull asymmetry, Broad philtrum, Craniosynostosis, ...	OMIM:265050
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Narrow mouth, Brachycephaly, High palate, Frontal bossing	OMIM:615539
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Wide mouth	OMIM:615419
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal...	ORPHA:77261
Craniofacial Dyssynostosis With Short Stature	Brachyturricephaly, Brachycephaly, Hydrocephalus, Abnormal shape of the occiput, Frontal bossing,...	OMIM:218350
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Unilateral microphthalmos, Mitral valve prolapse, Bilateral cleft palate, Thin upp...	OMIM:618874
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Plagiocephaly, Short lingual frenulum, Craniosynostosis, High palate, Wide mouth	ORPHA:1521
Culler-Jones Syndrome	Cleft palate, Cleft upper lip	OMIM:615849
Lujan-Fryns Syndrome	Abnormality of the dentition, Dental crowding, Brachycephaly, High palate, Short philtrum	ORPHA:776
Galloway-Mowat Syndrome 4	Plagiocephaly	OMIM:617730
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Wide mouth, Cleft palate, Microphthalmia	OMIM:619981
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Long philtrum, Oligohydramnios, Tented upper lip ...	OMIM:608670
Bartsocas-Papas Syndrome	Median cleft upper lip, Narrow mouth, Cleft palate	ORPHA:1234
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Unilateral cleft lip, Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal ...	OMIM:616897
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Brachycephaly, Downturned corners of mouth	ORPHA:352530
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Bifid uvula, Downturned corners of mouth, Absence of the pulmonary valve, ...	OMIM:601808
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Plagiocephaly, Frontal bossing, Widely spaced teeth	OMIM:617193
Nabais Sa-De Vries Syndrome, Type 2	Bilateral cleft palate, Bilateral cleft lip, Thin vermilion border, High palate, Frontal bossing	OMIM:618829
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Orofacial cleft, Mi...	OMIM:618804
Dihydropyrimidinase Deficiency	Anal atresia, Plagiocephaly	OMIM:222748
Chromosome 13Q33-Q34 Deletion Syndrome	Cleft lip, Delayed eruption of teeth, Gingival overgrowth, Open mouth, Encephalocele, Irregular d...	OMIM:619148
Steinfeld Syndrome	Bifid uvula, Abnormal heart morphology, Median cleft palate, Median cleft upper lip, Microphthalm...	OMIM:184705
Subaortic Stenosis-Short Stature Syndrome	Membranous subvalvular aortic stenosis, Microdontia, Subvalvular aortic stenosis, Microphthalmia	ORPHA:3191
Developmental Delay With Variable Neurologic And Brain Abnormalities	Widely spaced teeth, Knee flexion contracture, Microdontia, Microphthalmia, Camptodactyly	OMIM:619694
Orofaciodigital Syndrome Vi	Lobulated tongue, Cleft upper lip, Hamartoma of tongue, Incomplete cleft of the upper lip, High p...	OMIM:277170
Grant Syndrome	Open bite, Brachycephaly, Frontal bossing, Abnormal palate morphology	ORPHA:2097
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Camptodactyly of finger, Microphthalmia	ORPHA:2547
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Arthr...	OMIM:607598
Osteopathia Striata With Cranial Sclerosis	Bifid uvula, Anal stenosis, Natal tooth, Dental malocclusion, Dental crowding, Cleft upper lip, I...	OMIM:300373
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cleft lip, Downturned corners of mouth, Long philtrum, Abnormal heart morphology, Deep philtrum, ...	OMIM:618571
X-Linked Intellectual Disability, Wilson Type	Brachycephaly, Wide mouth, Thick vermilion border	ORPHA:85290
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly	OMIM:620200
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Alobar holoprosencephaly, Semilobar holoprosencephaly, Median cleft palat...	OMIM:301043
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Velopharyngeal insufficiency, Long philtrum, Skull asymmetry, Intestinal malrotation, Submucous c...	OMIM:614701
3Mc Syndrome 1	Lambdoidal craniosynostosis, Coronal craniosynostosis, Cleft lip, Dental crowding, Skull asymmetr...	OMIM:257920
Cranioectodermal Dysplasia 2	Plagiocephaly, Widely spaced teeth, Microdontia, Fused teeth, Smooth philtrum, Broad philtrum, Cl...	OMIM:613610
Congenital Rubella Syndrome	Microphthalmia, Aplasia/Hypoplasia of the iris, Atrial septal defect, Ventricular septal defect	ORPHA:290
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Cerebrooculonasal Syndrome	Narrow palate, Downturned corners of mouth, Long philtrum, Proboscis, Encephalocele, Solitary med...	OMIM:605627
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Abnormal lip morphology, Abnormal upper lip morphology, Microdontia, Smooth ...	ORPHA:2707
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Intestinal malrotation, Brachycephaly, Wide mouth, Duodenal atresia	OMIM:617798
Chromosome 15Q25 Deletion Syndrome	Cleft upper lip, Tented upper lip vermilion, Thin vermilion border, Cleft palate, Flat occiput	OMIM:614294
2Q23.1 Microdeletion Syndrome	Macrodontia, Tented upper lip vermilion, Open mouth, Brachycephaly, Everted lower lip vermilion	ORPHA:228402
Camptodactyly Syndrome, Guadalajara Type 1	Dental malocclusion, Downturned corners of mouth, Open bite, Narrow mouth, Abnormality of dental ...	ORPHA:1327
Bohring-Opitz Syndrome	Cleft upper lip, Intestinal malrotation, Trigonocephaly, Narrow mouth, Bilateral cleft palate, Un...	OMIM:605039
Warburg Micro Syndrome 1	Thin vermilion border, Narrow mouth, Microphthalmia	OMIM:600118
Gomez-Lopez-Hernandez Syndrome	Skull asymmetry, Turricephaly, Smooth philtrum, Brachycephaly, Thin vermilion border, Craniosynos...	OMIM:601853
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Dental crowding, Brachycephaly, Sagittal c...	OMIM:123500
Chromosome 14Q11-Q22 Deletion Syndrome	Plagiocephaly, Long philtrum, Narrow mouth, Macroglossia, High palate	OMIM:613457
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly, Everted lower lip vermilion	OMIM:615471
3Q29 Microduplication Syndrome	Abnormality of the dentition, Aniridia, Ventricular septal defect, Camptodactyly of toe, Deep phi...	ORPHA:251038
Meckel Syndrome, Type 2	Intestinal malrotation, Encephalocele, Meningocele, Anencephaly, Cleft palate	OMIM:603194
Recombinant 8 Syndrome	Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Camptodactyly of fing...	ORPHA:96167
Kury-Isidor Syndrome	Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Triangular mouth, Brachycephaly, ...	OMIM:619762
Doors Syndrome	Short lingual frenulum, Open mouth, High palate, Downturned corners of mouth, Sirenomelia, Thin u...	ORPHA:79500
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Umbilical hernia, Joint contracture of the 5th finger, Patent foramen ovale, Joint contracture of...	OMIM:618914
Ring Chromosome 7 Syndrome	Bifid uvula, Plagiocephaly, Narrow mouth, Median cleft palate, Brachycephaly, Thin vermilion bord...	ORPHA:1449
Q Fever	Abnormal heart valve morphology, Pleural effusion, Myocarditis, Pericardial effusion, Endocarditi...	ORPHA:781
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Muscular dystrophy, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia	OMIM:615181
Tetraamelia Syndrome 2	Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip	OMIM:618021
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly	OMIM:300699
Temtamy Syndrome	Abnormal palate morphology, Thick lower lip vermilion, Microphthalmia	ORPHA:1777
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo...	OMIM:157980
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Ventricular septal defect, Hydrocephalus, Microphthalmia, Holoprosencephaly	ORPHA:77298
Aarskog-Scott Syndrome	Cleft upper lip, Hypodontia, Broad philtrum, Curved linear dimple below the lower lip, Cleft palate	OMIM:305400
Cleidocranial Dysplasia 2	Supernumerary tooth, Plagiocephaly, Delayed eruption of primary teeth	OMIM:620099
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cleft lip, Natal tooth, Unicoronal synostosis, Hamartoma of tongue, Encephalocele, Incomplete cle...	OMIM:616300
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Rectourethral fistula, ...	OMIM:603116
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, Carious teeth, Plagiocephaly, Long philtrum, Microdontia, Hydrocephalu...	ORPHA:536467
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Plagiocephaly, Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Alveolar ridg...	OMIM:301072
Lissencephaly 8	Skeletal muscle atrophy, Occipital encephalocele, Microphthalmia	OMIM:617255
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Brachycephaly, Plagiocephaly, Hydrocephalus	ORPHA:500055
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Unilateral cleft lip, Oligodontia, Spina bifida occulta, Supernumerary tooth	ORPHA:1787
Verloove Vanhorick-Brubakk Syndrome	Non-midline cleft of the upper lip, Cleft palate	ORPHA:3429
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly, Wide mouth	OMIM:616083
Short-Rib Thoracic Dysplasia 12	Natal tooth, Ascites, Hamartoma of tongue, Median cleft palate, Patent foramen ovale, Ventricular...	OMIM:269860
Aicardi Syndrome	Plagiocephaly, Cleft upper lip, Intestinal polyposis, Hiatus hernia, Short philtrum, Cleft palate	ORPHA:50
Basel-Vanagaite-Smirin-Yosef Syndrome	Furrowed tongue, Tented upper lip vermilion, Ventricular septal defect, Short philtrum, Atrial se...	OMIM:616449
Adnp Syndrome	Plagiocephaly, Umbilical hernia, Thick lower lip vermilion, Trigonocephaly, Thin upper lip vermil...	ORPHA:404448
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Cleft upper lip, Tetralogy of Fallot, Encephalocel...	OMIM:100300
Omodysplasia 2	Long philtrum, Tented upper lip vermilion, Bilateral cleft lip, Frontal bossing, Cleft palate	OMIM:164745
Pseudodiastrophic Dysplasia	Smooth philtrum, Brachycephaly, Frontal bossing	OMIM:264180
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microphthalmia	OMIM:618805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Encephalocele, Transposition...	OMIM:253800
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Cleft palate	OMIM:243440
Basal Cell Nevus Syndrome 1	Cleft upper lip, Parietal bossing, Hydrocephalus, Odontogenic keratocysts of the jaw, Spina bifid...	OMIM:109400
Williams-Beuren Region Duplication Syndrome	Diastema, Brachycephaly, Hydrocephalus, High palate, Short philtrum	OMIM:609757
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Microdontia, Atrial septal defect, Microphthalmia, Hypoplasia of teeth, Clef...	ORPHA:2728
Gracile Bone Dysplasia	Ascites, Ankyloglossia, Aniridia, Hydrocephalus, Microphthalmia	OMIM:602361
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Median cleft palate, Median cleft upper lip, Bilateral cl...	OMIM:612651
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Bilateral cleft palate, Microphthalmia	ORPHA:1473
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Marden-Walker Syndrome	High, narrow palate, Joint contracture of the hand, Congenital contracture, Long philtrum, Decrea...	OMIM:248700
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Brachycephaly	ORPHA:1514
Mosaic Trisomy 9	Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelastosis, Oligohydram...	ORPHA:99776
Antley-Bixler Syndrome	Long philtrum, Narrow mouth, Turricephaly, Brachycephaly, Craniosynostosis, Frontal bossing, Clef...	ORPHA:83
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Widely spaced teeth, Trigonocephaly, Scaphocephaly, Brachycephaly, Sagittal craniosynostosis, Hyd...	ORPHA:459061
Recombinant Chromosome 8 Syndrome	Abnormality of the dentition, Downturned corners of mouth, Thick lower lip vermilion, Gingival ov...	OMIM:179613
Desanto-Shinawi Syndrome	Thin upper lip vermilion, Brachycephaly, Downturned corners of mouth	OMIM:616708
Turnpenny-Fry Syndrome	Abnormality of the dentition, Plagiocephaly, Dental malocclusion, Downturned corners of mouth, De...	OMIM:618371
Postaxial Acrofacial Dysostosis	Non-midline cleft of the upper lip, Cleft palate	ORPHA:246
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f...	OMIM:101400
Craniofrontonasal Syndrome	Abnormality of the dentition, Coronal craniosynostosis, Cleft upper lip, Umbilical hernia, Brachy...	OMIM:304110
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Long philtrum, Tented upper lip vermilion, Thin upper lip vermilion, Short philtrum, Brachycephal...	OMIM:619244
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Orofacial Cleft 15	Bilateral cleft lip, Palate fistula, Agenesis of lateral incisor, Bilateral cleft palate	OMIM:616788
Linear Nevus Sebaceus Syndrome	Prominent occiput, Plagiocephaly, Biparietal narrowing, Frontal bossing	ORPHA:2612
Genitopalatocardiac Syndrome	Downturned corners of mouth, Congenital diaphragmatic hernia, Hydrocephalus, Abnormal cardiac sep...	ORPHA:2075
Adams-Oliver Syndrome 2	Oligohydramnios, Limb hypertonia, Hydrocephalus, Microphthalmia	OMIM:614219
Neu-Laxova Syndrome 1	Generalized edema, Hydranencephaly, Joint contracture of the hand, Stillbirth, Cleft upper lip, T...	OMIM:256520
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conical tooth, Cleft lip, Selective tooth agenesis, Cleft upper lip, Widely spaced teeth, Hypodon...	OMIM:106260
Acromelic Frontonasal Dysostosis	Parietal foramina, Cleft upper lip, Encephalocele, Submucous cleft soft palate, Brachycephaly, Mi...	OMIM:603671
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Plagiocephaly, Widely spaced teeth	ORPHA:496641
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Flexion contracture of toe, Acute rhabdomyolysis, Finger joint contracture, Microphthalmia	ORPHA:48431
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Long philtrum, Umbilical hernia, Microphthalmia, Cleft palate	ORPHA:2505
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Oligohydramnios, Tented upper lip vermilion, Agenesis of cen...	ORPHA:364577
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Abnormality of the dentition, Plagiocephaly, Thick lower lip vermilion, Persis...	ORPHA:2785
Duane Retraction Syndrome	Spina bifida occulta, Plagiocephaly, Everted lower lip vermilion, Cleft palate	ORPHA:233
Acrocardiofacial Syndrome	Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Truncus arteriosu...	ORPHA:2008
Larsen-Like Syndrome	Brachycephaly, Dental malocclusion, Cleft palate, Frontal bossing	OMIM:608545
Chromosome 5P13 Duplication Syndrome	Downturned corners of mouth, Turricephaly, Brachycephaly, High palate, Craniosynostosis, Short ph...	OMIM:613174
Ritscher-Schinzel Syndrome 1	Prominent occiput, Brachycephaly, Hydrocephalus, Anal atresia, Cleft palate	OMIM:220210
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Oculodentodigital Dysplasia	Carious teeth, Selective tooth agenesis, Cleft upper lip, Joint contracture of the 5th finger, Mi...	OMIM:164200
Kaposiform Lymphangiomatosis	Pericardial effusion, Pleural effusion	ORPHA:464329
Holoprosencephaly 9	Alobar holoprosencephaly, Dental malocclusion, Downturned corners of mouth, Cleft upper lip, Thic...	OMIM:610829
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Narrow mouth, Brachycephaly, Crani...	ORPHA:1790
Kapur-Toriello Syndrome	Tetralogy of Fallot, Orofacial cleft, Microphthalmia, Ventricular septal defect	ORPHA:2328
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Camptodactyly of finger, Abnormal heart morphology, Elbow flexion contr...	OMIM:610758
Aica-Ribosiduria Due To Atic Deficiency	Thin upper lip vermilion, Brachycephaly, Wide mouth, Frontal bossing	OMIM:608688
Vici Syndrome	Dilated cardiomyopathy, Everted upper lip vermilion, Cardiomyopathy, Long philtrum, Cleft upper l...	OMIM:242840
Koolen-De Vries Syndrome	Narrow palate, Cleft upper lip, Widely spaced teeth, Open mouth, Everted lower lip vermilion, Hig...	OMIM:610443
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Cleft lip, Thick vermilion border, Joint contracture of the 5th finger, Exaggerated cupid's bow, ...	OMIM:620098
Myoclonic-Astatic Epilepsy	Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microphthalmia, Broad philtru...	ORPHA:1942
Nager Syndrome	Abnormal palate morphology, Wide mouth, Non-midline cleft of the upper lip, Cleft palate	ORPHA:245
Birk-Barel Syndrome	Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum	OMIM:612292
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Atrophy of alveolar ridges, Pleural effusion, Pericardial effus...	ORPHA:167
Even-Plus Syndrome	Hypodontia, Anal atresia, Brachycephaly, High palate	OMIM:616854
Holoprosencephaly 3	Bifid uvula, Cleft lip, Proboscis, Solitary median maxillary central incisor, Holoprosencephaly, ...	OMIM:142945
Cornelia De Lange Syndrome 1	High, narrow palate, Downturned corners of mouth, Cleft upper lip, Widely spaced teeth, Long phil...	OMIM:122470
Congenital Fibrinogen Deficiency	Gingival bleeding, Left ventricular hypertrophy, Right ventricular hypertrophy, Microphthalmia	ORPHA:335
Coffin-Siris Syndrome 1	Conical tooth, Plagiocephaly, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion...	OMIM:135900
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to...	ORPHA:2751
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Posterior plagiocephaly, Carious teeth, Long philtrum, Widely spaced teeth, ...	OMIM:615873
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Long philtrum, Tented upper lip vermilion, High palate, Microphthalmia, Short philtrum	OMIM:614105
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid stenosis, Edema, Muscular ventricular septal defect, Hypop...	OMIM:212093
Holoprosencephaly 2	Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Proboscis, Median cleft palat...	OMIM:157170
Lymphangioleiomyomatosis	Chylothorax, Lymphedema, Ascites, Hydrocephalus, Chylopericardium	ORPHA:538
Holoprosencephaly	Spinal dysraphism, Tooth agenesis, Median cleft palate, Encephalocele, Branchial anomaly, Median ...	ORPHA:2162
Renal Agenesis, Bilateral	Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Non-midline cleft of the u...	ORPHA:1848
Mosaic Trisomy 1	Short upper lip, Thick lower lip vermilion, Camptodactyly of finger, Elbow flexion contracture, I...	ORPHA:1692
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Holoprosencephaly 1	Tessier cleft, Alobar holoprosencephaly, Proboscis, Median cleft palate, Median cleft upper lip, ...	OMIM:236100
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Narrow mouth, Encephalocele, Orofacial cleft, Hydrocephalus, Abnormal cardiac s...	ORPHA:2166
Zaki Syndrome	Short philtrum, Median pseudocleft lip, High palate, Wide mouth	OMIM:619648
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Cleft palate	OMIM:607361
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Open bite, High palate, Plagiocephaly, Dental crowding	OMIM:620083
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly, Anal atresia	ORPHA:93950
Oculodentodigital Dysplasia	Broad alveolar ridges, Carious teeth, Cranial hyperostosis, Tooth agenesis, Abnormal dental ename...	ORPHA:2710
Postaxial Acrofacial Dysostosis	Conical tooth, Cleft upper lip, Midgut malrotation, Cleft palate, Pyloric stenosis	OMIM:263750
Trisomy 18	Camptodactyly of finger, Oligohydramnios, Narrow mouth, Congenital diaphragmatic hernia, Ventricu...	ORPHA:3380
Orofaciodigital Syndrome Type 1	Abnormality of the dentition, Odontogenic neoplasm, Lip pit, Lobulated tongue, Tongue nodules, Op...	ORPHA:2750
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Plagiocephaly, Dental crowding, Widely spaced teeth, Frontal bossing, Open m...	ORPHA:466791
Al Kaissi Syndrome	High, narrow palate, Long philtrum, Macrodontia, Thin upper lip vermilion, Smooth philtrum, Brach...	OMIM:617694
Pfeiffer Syndrome Type 1	Aqueductal stenosis, High palate, Bicoronal synostosis, Brachycephaly	ORPHA:93258
6Q Terminal Deletion Syndrome	High, narrow palate, Plagiocephaly, Thick vermilion border, Dolichocephaly, Broad philtrum	ORPHA:75857
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Plagiocephaly, Intestinal malrotation, Esophagitis, Perineal fistula, Hiatus hernia...	ORPHA:2538
Teebi-Shaltout Syndrome	Aortic valve stenosis, High, narrow palate, Prominent palatine ridges, Narrow mouth, Ventricular ...	OMIM:272950
Ellis-Van Creveld Syndrome	Natal tooth, Delayed eruption of teeth, Cleft upper lip, Hypodontia, Atrial septal defect, Common...	OMIM:225500
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Umbilical hernia, Tetralogy of F...	OMIM:115470
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Ventricular septal defect, Subvalvular aortic stenosis, Hydrocephalus, At...	OMIM:613001
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Cleft palate	ORPHA:33001
3Mc Syndrome 3	Tessier cleft, Cleft upper lip, Cleft palate	OMIM:248340
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Pulmonary edema, Dilated cardiomyopathy	ORPHA:73224
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Ring Chromosome 10 Syndrome	Thin vermilion border, Long philtrum, Microphthalmia	ORPHA:1438
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, T...	OMIM:234100
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
3Q29 Microdeletion Syndrome	Abnormality of the dentition, Dental crowding, Short philtrum, Orofacial cleft, Subvalvular aorti...	ORPHA:65286
Aicardi-Goutieres Syndrome 7	Hypertrophic cardiomyopathy, Oligohydramnios, Limb hypertonia, Pericardial effusion, Edema	OMIM:615846
Chilton-Okur-Chung Neurodevelopmental Syndrome	Posterior plagiocephaly, Plagiocephaly, Widely spaced teeth, Frontal bossing, Ankyloglossia, Comm...	OMIM:619841
Autosomal Dominant Popliteal Pterygium Syndrome	Lip pit, Fibrous syngnathia, Thin upper lip vermilion, Non-midline cleft of the upper lip, Cleft ...	ORPHA:1300
Fryns Syndrome	Joint contracture of the hand, Chylothorax, Stillbirth, Long philtrum, Cleft upper lip, Tented up...	OMIM:229850
Marshall Syndrome	Abnormality of the dentition, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion...	ORPHA:560
Achondrogenesis, Type Ii	Brachycephaly, Frontal bossing, Long philtrum, Cleft palate	OMIM:200610
Xq28 (MECP2) duplication	Brachycephaly, Narrow mouth	DECIPHER:45
Arboleda-Tham Syndrome	Plagiocephaly, Downturned corners of mouth, Frontal bossing, Peg-shaped maxillary lateral incisor...	OMIM:616268
Lymphatic Malformation 5	Cleft palate	OMIM:153200
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Ventricular septal defect, Orofacial cleft, Hydrocephalus, Micro...	ORPHA:268249
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Bifid tongue, Anal atresia, Cleft p...	OMIM:613091
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Unilateral cleft lip, Thick lower lip vermilion, Submucous cleft hard palate, Ventricular septal ...	OMIM:619103
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Thin upper lip vermilion, Microphthalmia	OMIM:619135
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atresia, Anencephaly	ORPHA:63260
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hydrocephalus, Microphthalmia	OMIM:601794
Meckel Syndrome 14	Occipital encephalocele, Oligohydramnios, Increased nuchal translucency, Single ventricle, Microp...	OMIM:619879
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Open mouth, Hydrocephalus	ORPHA:457284
Smith-Magenis Syndrome	Abnormality of the dentition, Everted upper lip vermilion, Velopharyngeal insufficiency, Brachyce...	OMIM:182290
Microcephaly-Micromelia Syndrome	Oligohydramnios, Narrow mouth, Neonatal death, Microphthalmia, Aqueductal stenosis, Cleft palate	OMIM:251230
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Nail-Patella Syndrome	Cleft upper lip, Spina bifida, Cleft palate	OMIM:161200
Lymphatic Malformation 6	Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural effusion, Genital edem...	OMIM:616843
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Plagiocephaly, Short uvula, Ankyloglossia, Thin upper lip vermilion, Smooth ...	OMIM:619475
Alg12-Cdg	Intestinal malrotation, Short philtrum, Thin upper lip vermilion, Posterior plagiocephaly	ORPHA:79324
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,...	ORPHA:1071
Adams-Oliver Syndrome	Tetralogy of Fallot, Ascites, Abnormal pulmonary valve morphology, Encephalocele, Hydrocephalus, ...	ORPHA:974
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes...	ORPHA:193
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Thick vermilion border, Open mouth, Short phi...	ORPHA:364028
Fetal Trimethadione Syndrome	Brachycephaly, High palate	ORPHA:1913
Moebius Syndrome	Bifid uvula, Abnormality of the dentition, Congenital fibrosis of extraocular muscles, Facial dip...	OMIM:157900
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short philtrum, Wide mouth, Hydrocephalus, Microphthalmia	ORPHA:163966
Vacterl/Vater Association	Occipital encephalocele, Tracheoesophageal fistula, Anal atresia, Anencephaly, Non-midline cleft ...	ORPHA:887
Inverted Duplicated Chromosome 15 Syndrome	Short philtrum, Brachycephaly, High palate	ORPHA:3306
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Rere-Related Neurodevelopmental Syndrome	Abnormal heart morphology, Microphthalmia, Ventricular septal defect	ORPHA:494344
Fanconi Anemia, Complementation Group S	Dental malocclusion, Thick upper lip vermilion, Macrodontia, Microphthalmia, Narrow palate	OMIM:617883
Microphthalmia With Limb Anomalies	Long philtrum, Cleft upper lip, Macrodontia, Hydrocephalus, Thin vermilion border, High palate, F...	ORPHA:1106
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Median pseudocleft lip, Wide mouth, Secundum atrial septal defect, Umbilical hernia	OMIM:619758
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anal atresia, Meningoencephalocele, Clef...	OMIM:236670
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Microphthalmia, Optic nerv...	OMIM:609053
Wieacker-Wolff Syndrome, Female-Restricted	Downturned corners of mouth, Long philtrum, Brachycephaly, U-Shaped upper lip vermilion, Cleft pa...	OMIM:301041
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Long philtrum, Thin upper lip vermilion, Brachycephaly, High palate, Flat occiput	OMIM:617452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Muscular dystrophy, Abnormally large globe, Hydrocephalus, Microphthalmia, Flexion contracture	OMIM:615249
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Cleft upper lip, Gingival overgrowth, Brachycephaly, Microdontia of primary teeth, Craniosynostos...	OMIM:213980
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Furrowed tongue, Contracture of the proximal interphalangeal joint of the 3r...	ORPHA:464738
Walker-Warburg Syndrome	Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal ...	ORPHA:899
Tetraamelia-Multiple Malformations Syndrome	Narrow mouth, Orofacial cleft, Hydrocephalus, Microphthalmia, Polyhydramnios, Septo-optic dysplasia	ORPHA:3301
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly	OMIM:309541
Beck-Fahrner Syndrome	Brachycephaly, High palate, Open mouth, Long philtrum	OMIM:618798
Faundes-Banka Syndrome	Thin upper lip vermilion, Plagiocephaly, Frontal bossing, Cleft palate	OMIM:619376
Bifid Nose With Or Without Anorectal And Renal Anomalies	Anteriorly placed anus, Short lingual frenulum, Brachycephaly, Short philtrum, Rectovaginal fistu...	OMIM:608980
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Plagiocephaly, Downturned corners of mouth, Long philtrum, Thin upper lip vermilion, Macroglossia...	ORPHA:444077
Hydrolethalus Syndrome 1	Stillbirth, Complete atrioventricular canal defect, Ventricular septal defect, Median cleft upper...	OMIM:236680
Seckel Syndrome 2	Microdontia, Microglossia, Microphthalmia	OMIM:606744
Myhre Syndrome	Bifid uvula, Gingival cleft, Craniofacial hyperostosis, Unilateral cleft lip, Abnormal lip morpho...	ORPHA:2588
Wolf-Hirschhorn Syndrome	Downturned corners of mouth, Cleft upper lip, Abnormal lip morphology, Calvarial skull defect, Hy...	ORPHA:280
Cleidocranial Dysplasia	High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Open...	ORPHA:1452
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Microglossia, Hamartoma of tongue, Intestinal malrotation, Median cleft upper lip, Brachycephaly,...	OMIM:263520
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bifid uvula, Posterior plagiocephaly, Long philtrum, Umbilical hernia, Scaphocephaly, Thin upper ...	OMIM:620330
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Temtamy Syndrome	Hypoplasia of teeth, Dental crowding, Long philtrum, Microphthalmia	OMIM:218340
Adenylosuccinase Deficiency	Long philtrum, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Wide mouth	OMIM:103050
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Microphthalmia	ORPHA:627
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Spinal dysraphism, Plagiocephaly, Long philtrum, Large placenta, Narrow mouth, Tented upper lip v...	ORPHA:96334
Larsen Syndrome	Cleft upper lip, Hypodontia, Spina bifida occulta, Frontal bossing, Cleft palate	OMIM:150250
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, High, narrow palate, Bifid uvula, Oral synechia, Perineal fistul...	ORPHA:2753
Frontorhiny	Cranium bifidum occultum, Camptodactyly of finger, Encephalocele, Basal encephalocele, Microphtha...	ORPHA:391474
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Hypoplasia of teeth, Ventricular septal defect	OMIM:234050
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Long philtrum, Umbilical hernia, Frontal bossing, Brachycephaly, Biparietal narrowing, Wide mouth	ORPHA:1292
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Thin upper lip vermilion, Deep...	OMIM:613884
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Long philtrum, Thin upper lip vermilion, Brachycephaly, High palate, Flat occiput	ORPHA:505237
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Delayed eruption of teet...	OMIM:257850
Meckel Syndrome, Type 1	Occipital encephalocele, Natal tooth, Cleft upper lip, Camptodactyly of finger, Large placenta, O...	OMIM:249000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Abnormality of the dentition, Downturned corners of mouth, Long phil...	OMIM:615398
Focal Dermal Hypoplasia	Abnormality of the dentition, Umbilical hernia, Hypoplasia of the iris, Open bite, Abnormal denta...	ORPHA:2092
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Bilateral microphthalmos, Tetralogy of Fallot, Anophthalmia, Congenital ...	OMIM:601186
Degcags Syndrome	Plagiocephaly, Long philtrum, Protruding tongue, Jejunal atresia, Hiatus hernia, Smooth philtrum,...	OMIM:619488
Apert Syndrome	Bifid uvula, Delayed eruption of teeth, Brachyturricephaly, Ectopic anus, Cloverleaf skull, Esoph...	ORPHA:87
Pallister-Hall Syndrome	Microglossia, Natal tooth, Cleft upper lip, Neonatal death, Ventricular septal defect, Microphtha...	OMIM:146510
Warburg Micro Syndrome 4	Decreased muscle mass, Long philtrum, Narrow mouth, Microphthalmia, Flexion contracture	OMIM:615663
2Q31.1 Microdeletion Syndrome	Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Ventricular septal defect, D...	ORPHA:251014
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Long philtrum, Pursed lips, Narrow mouth, Smooth philtrum, Brachycephaly, High palate	ORPHA:562528
Iniencephaly	Spinal dysraphism, Myelomeningocele, Abnormal occipital bone morphology, Narrow mouth, Encephaloc...	ORPHA:63259
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Long philtrum, Brachycephaly, Hydrocephalu...	OMIM:207410
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical hernia, Tetralogy of Fal...	OMIM:600001
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Dental crowding, Thick lower lip vermilion, Thickened calvaria,...	OMIM:309583
Distal Deletion 3P	Downturned corners of mouth, Long philtrum, Umbilical hernia, Brachycephaly, Thin vermilion borde...	ORPHA:1620
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gingival overgrowth, Protruding tongue, Brachycephaly, Wide mouth, Flat occiput	OMIM:618797
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Brachycephaly, High palate	OMIM:618142
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Median cleft upper lip, Overriding aorta, Orofacial cleft, Microphthalmia, H...	ORPHA:3186
Microphthalmia, Syndromic 2	Aortic valve stenosis, Anophthalmia, Mitral valve prolapse, Ventricular septal defect, Contractur...	OMIM:300166
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Coronal craniosynostosis, Umbilical hernia, Oligodontia, Brachycephaly	ORPHA:2095
Fraser Syndrome 1	Tessier cleft, Dental crowding, Dental malocclusion, Cleft upper lip, Myelomeningocele, Abnormal ...	OMIM:219000
Nabais Sa-De Vries Syndrome, Type 1	Smooth philtrum, Brachycephaly	OMIM:618828
Meckel Syndrome	Aplasia/Hypoplasia of the tongue, Furrowed tongue, Oligohydramnios, Situs inversus totalis, Encep...	ORPHA:564
Skin Creases, Congenital Symmetric Circumferential, 1	Long philtrum, Narrow mouth, Brachycephaly, High palate, Cleft palate	OMIM:156610
19P13.12 Microdeletion Syndrome	Long philtrum, Hypodontia, Brachycephaly, Thin vermilion border, Craniosynostosis, Cleft palate	ORPHA:254346
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly, Short philtrum, Tented upper lip vermilion, Thick vermilion border	OMIM:618885
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Open mouth, Narrow mouth, Thin uppe...	OMIM:616078
Distal Deletion 12Q	High, narrow palate, Microglossia, Long philtrum, Median cleft upper lip, Smooth philtrum, Brachy...	ORPHA:96149
Catel-Manzke Syndrome	Bifid uvula, Cleft upper lip, Umbilical hernia, Narrow mouth, Ventricular septal defect, Overridi...	OMIM:616145
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Hydrocephalus, Abnormal palate morphology	ORPHA:3042
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbilical hernia, Tetralogy of...	ORPHA:2255
Monosomy 9Q22.3	Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, Cardiac fibroma, Orofac...	ORPHA:77301
Roberts Syndrome	Cleft upper lip, Brachycephaly, Craniosynostosis, High palate, Cleft palate	ORPHA:3103
Martsolf Syndrome 1	Tooth malposition, Cardiomyopathy, Long philtrum, High palate, Microphthalmia, Short philtrum	OMIM:212720
Mosaic Variegated Aneuploidy Syndrome	Muscular dystrophy, Rhabdomyosarcoma, Ascites, Increased nuchal translucency, Subvalvular aortic ...	ORPHA:1052
Pde4D Haploinsufficiency Syndrome	Long philtrum, Abnormal dental enamel morphology, Thin upper lip vermilion, Thickened calvaria, B...	ORPHA:439822
1Q21.1 Microdeletion Syndrome	Long philtrum, Ankyloglossia, Hydrocephalus, Abnormal cardiac septum morphology, Microphthalmia, ...	ORPHA:250989
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Dental malocclusion, Delayed eruption of t...	OMIM:614188
Refsum Disease	Skeletal muscle atrophy, Cardiomyopathy, Microphthalmia	ORPHA:773
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Widely spaced teeth, Tented upper lip vermilion, Narrow mouth, Brachycephaly, High palate	OMIM:300260
H Syndrome	Gingival overgrowth, Hydrocephalus, Cleft upper lip	ORPHA:168569
19P13.13 Microdeletion Syndrome	Narrow mouth, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Dolichocephaly, Macroglos...	ORPHA:357001
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Tetralogy of Fallot, Cleft upper lip, Cleft palate, Ventricular septal defect	OMIM:600460
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ventricular septal defect, Overridi...	OMIM:309801
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, High palate	OMIM:218000
8Q21.11 Microdeletion Syndrome	Abnormality of the dentition, Downturned corners of mouth, Camptodactyly of finger, Narrow mouth,...	ORPHA:284160
Apert Syndrome	Lambdoidal craniosynostosis, Bifid uvula, Coronal craniosynostosis, Dental malocclusion, Delayed ...	OMIM:101200
Congenital Disorder Of Glycosylation, Type Iia	Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protruding tongue, Brachyc...	OMIM:212066
Fanconi Anemia, Complementation Group R	Agenesis of permanent teeth, Hydrocephalus, Microphthalmia	OMIM:617244
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Bifid uvula, Long philtrum, Thin upper lip vermilion, Microphthalmia, Thin vermilion border	OMIM:241410
Atelis Syndrome 2	Downturned corners of mouth, Diastema, Thick lower lip vermilion, Microphthalmia, Supravalvar pul...	OMIM:620185
Cree Impaired Intellectual Development Syndrome	Brachycephaly, Cleft soft palate	OMIM:606851
Hamamy Syndrome	Dental malocclusion, Long philtrum, Thin upper lip vermilion, Hypodontia, Smooth philtrum, Brachy...	OMIM:611174
Alobar Holoprosencephaly	Bifid uvula, Proboscis, Median cleft upper lip, Solitary median maxillary central incisor, Hydroc...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Proboscis, Median cleft upper lip, Solitary median maxillary central incisor, Hydroc...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Proboscis, Median cleft upper lip, Solitary median maxillary central incisor, Hydroc...	ORPHA:93924
Semilobar Holoprosencephaly	Bifid uvula, Proboscis, Median cleft upper lip, Solitary median maxillary central incisor, Hydroc...	ORPHA:220386
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Cleft upper lip, Umbilical hernia, Single ventricle, Abnormal cardiac septum morphology, Stillbir...	OMIM:308050
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Abnormal salivary gland morphology, Pleural effusion	OMIM:181000
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Cooper-Jabs Syndrome	Brachycephaly, Frontal bossing, Anteriorly placed anus, Umbilical hernia	ORPHA:1488
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Protruding tongue, Brachycephaly, Everted lower lip ve...	OMIM:610253
Peters Plus Syndrome	Intestinal fistula, Long philtrum, Cleft upper lip, Widely spaced teeth, Umbilical hernia, Fronta...	ORPHA:709
Branchioskeletogenital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Downturned corners of mouth, Anteriorly...	ORPHA:1299
Dysostosis, Stanescu Type	Abnormality of the dentition, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, A...	ORPHA:1798
Histiocytoid Cardiomyopathy	Congenital aphakia, Ventricular septal defect, Cardiomegaly, Pulmonary edema, Hydrocephalus, Micr...	ORPHA:137675
Diamond-Blackfan Anemia 1	Parietal foramina, Cleft upper lip, Spina bifida occulta, High palate, Cleft palate, Colon cancer	OMIM:105650
Acrofrontofacionasal Dysostosis 2	Brachycephaly, High palate	OMIM:239710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy, Hydrocephalus, Microphthalmia...	OMIM:616538
Angelman Syndrome	Widely spaced teeth, Protruding tongue, Brachycephaly, Macroglossia, Wide mouth, Flat occiput	OMIM:105830
Laurence-Moon Syndrome	Brachycephaly	ORPHA:2377
Sweeney-Cox Syndrome	Velopharyngeal insufficiency, Narrow mouth, Median cleft palate, Short philtrum, Brachycephaly, A...	OMIM:617746
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly	ORPHA:45358
Acrofacial Dysostosis 1, Nager Type	Velopharyngeal insufficiency, Cleft upper lip, Aganglionic megacolon, Hydrocephalus, Aqueductal s...	OMIM:154400
Stromme Syndrome	Myopathy, Hydrocephalus, Stillbirth, Microphthalmia, Wide mouth, Cleft palate, Optic nerve hypopl...	OMIM:243605
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Long philtrum, Thin upper lip vermilion, Brachycephaly, Everted lower lip ve...	OMIM:612513
49,Xxxxy Syndrome	Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont...	ORPHA:96264
Nijmegen Breakage Syndrome	Anal stenosis, Cleft upper lip, Deep philtrum, Anal atresia, Cleft palate	OMIM:251260
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Abnormal cardiac septum morphology, Microphthalmia	ORPHA:1352
Trichothiodystrophy 3, Photosensitive	Eclabion, Carious teeth, Natal tooth, Microphthalmia	OMIM:616395
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Bifid uvula, Microglossia, Plagiocephaly, Brachycephaly, High palate...	OMIM:607932
Jacobsen Syndrome	Ventricular septal defect, Macular hypoplasia, Hydrocephalus, Atrial septal defect, Microphthalmi...	OMIM:147791
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Ascites, Polyhydramnios, Cardiomegaly, Pericardial effusion, Hydrops fet...	ORPHA:51608
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Joubert Syndrome 37	High palate, Microphthalmia	OMIM:619185
Fraser Syndrome	Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Umbilical hernia, Myelomeni...	ORPHA:2052
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Brachycephaly, Narrow mouth, Umbilical hernia	OMIM:219150
Warburg Micro Syndrome 3	Downturned corners of mouth, Decreased muscle mass, Microphthalmia, Narrow palate, Flexion contra...	OMIM:614222
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Galloway-Mowat Syndrome 3	Oligohydramnios, Narrow mouth, Microphthalmia, Camptodactyly, High palate, Edema	OMIM:617729
Distal Deletion 10Q	Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Craniosynostosis, High palate, Spina bi...	ORPHA:96148
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Microphth...	OMIM:300952
Baller-Gerold Syndrome	Brachyturricephaly, Anteriorly placed anus, Narrow mouth, Brachycephaly, Anal atresia, High palat...	ORPHA:1225
Loeys-Dietz Syndrome 5	Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Hiatus hernia, Eosinophilic infiltrat...	OMIM:615582
Mend Syndrome	Aortic valve stenosis, Asymmetry of the mouth, Abnormal heart morphology, Limb hypertonia, Hydroc...	ORPHA:401973
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus, Microphthalmia	OMIM:300863
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Xerostomia, Semilobar holoprosencephaly, Selective tooth agenesis, Cleft upper lip...	OMIM:129900
Pelvis-Shoulder Dysplasia	Hydranencephaly, Microglossia, Bilateral microphthalmos, Camptodactyly of finger, Thick anterior ...	ORPHA:2839
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly, High palate	OMIM:619995
Yunis-Varon Syndrome	High, narrow palate, Short upper lip, Cardiomyopathy, Bilateral microphthalmos, Tetralogy of Fall...	ORPHA:3472
Kyphomelic Dysplasia	Cleft upper lip, Cleft palate	OMIM:211350
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Coronal craniosynostosis, Umbilical hernia, Agenesis of permanent te...	OMIM:201000
Chromosome 8Q21.11 Deletion Syndrome	Downturned corners of mouth, Exaggerated cupid's bow, Camptodactyly, High palate, Microphthalmia,...	OMIM:614230
Gillessen-Kaesbach-Nishimura Syndrome	Smooth philtrum, Brachycephaly	OMIM:263210
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Lip pit, Abnormal palate morphology, Hypodontia, Brachycephaly, Frontal bossing	ORPHA:1236
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chylothorax, Long philtrum, Lymphedema, Thick vermilion border, Pleural effusion, Anophthalmia, A...	ORPHA:2526
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Cleft palate, Microphthalmia	OMIM:610125
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Pectoralis hypoplasia, Ventricular septal defect, Atrial septal defect, Sm...	OMIM:607323
Rodrigues Blindness	Tooth malposition, Microphthalmia	OMIM:268320
Autosomal Recessive Faciodigitogenital Syndrome	Long philtrum, Frontal bossing, Open bite, Brachycephaly, Deep philtrum, Everted lower lip vermil...	ORPHA:1974
Intellectual Developmental Disorder, Autosomal Dominant 1	Downturned corners of mouth, Widely spaced teeth, Frontal bossing, Open mouth, Microdontia, Thin ...	OMIM:156200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Long philtrum, Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricula...	ORPHA:508498
Aicardi Syndrome	Hiatus hernia, Cleft upper lip, Spina bifida, Cleft palate	OMIM:304050
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Umbilical hernia, Tetralogy of Fallot, Abnormal soft ...	ORPHA:138
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Cardiomyopathy, Umbilical hernia, Cleft upper lip, Camptodactyly of finger, ...	ORPHA:373
Vacterl With Hydrocephalus	Anophthalmia, Hydrocephalus, Spina bifida, Microphthalmia, Polyhydramnios, Aqueductal stenosis	ORPHA:3412
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Parotitis, Ascites, Myocarditis, Pericardial effusion	ORPHA:99827
Tetraamelia Syndrome 1	Anal atresia, Hydrocephalus, Cleft palate, Cleft upper lip	OMIM:273395
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Mulberry molar, Microphthalmia, Screwdriver-shaped inc...	OMIM:302350
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Microphthalmia	OMIM:610756
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Short philtrum, Plagiocephaly, Narrow mouth, Sagittal craniosynostosis	OMIM:620455
20Q11.2 Microduplication Syndrome	Tented philtrum, Trigonocephaly, Gingival overgrowth, Tented upper lip vermilion, Abnormal oral f...	ORPHA:363659
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly	ORPHA:70472
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Microphthalmia	OMIM:169550
48,Xxxy Syndrome	Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont...	ORPHA:96263
Tsh-Secreting Pituitary Adenoma	Pericardial effusion	ORPHA:91347
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Persistence of primary teeth, Oligodontia, Microdontia, Ename...	OMIM:618727
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Tetralogy of Fallot, Hamartoma of tongue, Complete atrioventricular canal...	OMIM:617925
Lig4 Syndrome	Thin vermilion border, Brachycephaly, Biparietal narrowing	ORPHA:99812
Gitelman Syndrome	Pericardial effusion, Rhabdomyolysis	ORPHA:358
Wolf-Hirschhorn Syndrome	Craniofacial asymmetry, Malrotation of small bowel, Downturned corners of mouth, Cleft upper lip,...	OMIM:194190
Oculopalatocerebral Syndrome	Cleft palate, Microphthalmia	OMIM:257910
Fontaine Progeroid Syndrome	High, narrow palate, Long philtrum, Umbilical hernia, Abnormal heart morphology, Microdontia, Oli...	OMIM:612289
Contractural Arachnodactyly, Congenital	Scaphocephaly, Brachycephaly, Dolichocephaly, High palate, Frontal bossing	OMIM:121050
Microphthalmia With Brain And Digit Anomalies	High palate, Anophthalmia, Microphthalmia	ORPHA:139471
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Carious teeth, Natal tooth, Branchial cyst, Downturned corners of mouth, Ankylogloss...	OMIM:620186
Fanconi Anemia, Complementation Group F	Polyhydramnios, Atrial septal defect, Microphthalmia	OMIM:603467
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Bartsocas-Papas Syndrome 1	Tessier cleft, Anal stenosis, Cleft upper lip, Oral synechia, Anal atresia, Cleft palate	OMIM:263650
Peters-Plus Syndrome	Cleft upper lip, Widely spaced teeth, Long philtrum, Anteriorly placed anus, Umbilical hernia, Sh...	OMIM:261540
Peroxisome Biogenesis Disorder 12A (Zellweger)	Scaphocephaly, Hydrocephalus, Cranial asymmetry	OMIM:614886
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Stickler Syndrome	Bifid uvula, Long philtrum, Cleft upper lip, Open bite, Abnormal dental enamel morphology, Tooth ...	ORPHA:828
Microphthalmia/Coloboma 9	Long philtrum, Microphthalmia	OMIM:615145
Cousin Syndrome	Hydranencephaly, Microglossia, Joint contracture of the hand, Alveolar ridge overgrowth, Wrist fl...	OMIM:260660
ERI1-related disease	Velopharyngeal insufficiency, Trigonocephaly, Brachycephaly, High palate, Frontal bossing	OMIM:608739
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Anteriorly p...	OMIM:604292
Kleefstra Syndrome Due To 9Q34 Microdeletion	Downturned corners of mouth, Protruding tongue, Brachycephaly, Everted lower lip vermilion, Macro...	ORPHA:96147
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thin vermilion border, Brachycephaly, Long philtrum	OMIM:614800
Ohdo Syndrome, X-Linked	Long philtrum, Widely spaced teeth, Narrow mouth, Microdontia, Smooth philtrum, Microphthalmia, T...	OMIM:300895
Fanconi Anemia, Complementation Group N	Microphthalmia, Atrial septal defect, Ventricular septal defect	OMIM:610832
Progressive Non-Infectious Anterior Vertebral Fusion	Thin vermilion border, Brachycephaly, Short philtrum, Wide mouth	ORPHA:2062
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Hydrocephalus	OMIM:109120
Trichorhinophalangeal Syndrome, Type Ii	Carious teeth, Plagiocephaly, Skull asymmetry, Chronic gastritis, Prominent palatine ridges, Thin...	OMIM:150230
Down Syndrome	Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Thick low...	ORPHA:870
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Abnormality of the dentition, Long philtrum, Smooth philtrum, Brachycephaly, Anal at...	OMIM:300968
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Corneal stromal edema, Narrow philtrum, Flexion contracture of finger,...	OMIM:601812
Renpenning Syndrome 1	Joint contracture of the hand, Tetralogy of Fallot, Macrodontia, Situs inversus totalis, Narrow m...	OMIM:309500
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Focal Dermal Hypoplasia	Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Anteriorly placed anus, Intestin...	OMIM:305600
Phace Association	Microphthalmia, Optic nerve hypoplasia, Ventricular septal defect	OMIM:606519
White-Sutton Syndrome	Bifid uvula, Downturned corners of mouth, Short philtrum, Brachycephaly, Thin vermilion border, H...	OMIM:616364
Kleefstra Syndrome	Delayed eruption of teeth, Downturned corners of mouth, Tented upper lip vermilion, Exaggerated c...	ORPHA:261494
22Q11.2 Deletion Syndrome	Abnormality of the dentition, Carious teeth, Long philtrum, Umbilical hernia, Tetralogy of Fallot...	ORPHA:567
Garg-Mishra Progeroid Syndrome	Dental crowding, Microphthalmia	OMIM:620601
Charge Syndrome	Secundum atrial septal defect, Cleft upper lip, Umbilical hernia, Tetralogy of Fallot, Unilateral...	OMIM:214800
Alagille Syndrome	Spina bifida occulta, Short philtrum, Brachycephaly, Frontal bossing	ORPHA:52
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Microphthalmia, Lenz Type	Abnormality of the dentition, Delayed eruption of teeth, Camptodactyly of finger, Abnormal dental...	ORPHA:568
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Abnormal dental morphology, Cranial asymmetry	OMIM:163200
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Facial palsy	OMIM:615085
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Long philtrum, Narrow mouth, Thin upper lip vermilion, Brachycephaly, Cleft palate	OMIM:601353
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Open mouth, Everted lower lip vermilion, Microphthalmia,...	ORPHA:534
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Tented upper lip vermilion, Brachycephaly, Short philtrum, Delayed eruption of permanent teeth	ORPHA:521445
9P13 Microdeletion Syndrome	Brachycephaly, High palate, Umbilical hernia	ORPHA:324313
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Anophthalmia, Submucous c...	ORPHA:2250
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Camptodactyly of finger, Tetralogy of Fallot, Pectoral muscle hypoplasi...	ORPHA:306542
Pierson Syndrome	Skeletal muscle atrophy, Hypoplasia of the iris, Oligohydramnios, Rieger anomaly, Hypoplasia of t...	OMIM:609049
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Long philtrum, Cleft upper lip, Submucous cleft hard palate, Orofacial cleft, Brachy...	OMIM:607872
Galloway-Mowat Syndrome 1	Joint contracture of the hand, Hypoplasia of the iris, Oligohydramnios, Microphthalmia, Camptodac...	OMIM:251300
Curry-Jones Syndrome	Lip pit, Occipital meningocele, Lipomyelomeningocele, Microphthalmia	OMIM:601707
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Edema, Microphthalmia	OMIM:302960
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cleft lip, Furrowed tongue, Patent foramen ovale, Ventricular septal defect, Smooth philtrum, Mic...	OMIM:616975
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Atrioventricular canal defect, Median cleft upper lip, Hypodontia, Polyhydramnios, Supernumerary ...	OMIM:617088
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Narrow mouth, Perineal fistula, High palate, Anal atresia, Rectovagi...	OMIM:218600
Fanconi Anemia	Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Aplasia/Hypoplasia of the uvu...	ORPHA:84
Acrodysostosis	Delayed eruption of teeth, Open bite, Open mouth, Brachycephaly, Frontal bossing	ORPHA:950
Micro Syndrome	Short philtrum, High palate, Microphthalmia	ORPHA:2510
Cerebellar Ataxia-Hypogonadism Syndrome	Brachycephaly	ORPHA:1173
2P15P16.1 Microdeletion Syndrome	Long philtrum, Narrow mouth, Smooth philtrum, Brachycephaly, Everted lower lip vermilion, High pa...	ORPHA:261349
Aicardi-Goutières Syndrome	Plagiocephaly	ORPHA:51
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology, Cleft soft palate, Narrow mouth, Wide mouth,...	OMIM:154500
Mosaic Variegated Aneuploidy Syndrome 1	Long philtrum, Triangular mouth, Brachycephaly, Hydrocephalus, Duodenal atresia, Cleft palate	OMIM:257300
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Long philtrum, Narrow mouth, Microdontia, Brachycephaly, Hydrocephalus, Craniosynostosis, Frontal...	OMIM:245600
Ayme-Gripp Syndrome	Abnormality of the dentition, Craniofacial asymmetry, Long philtrum, Narrow mouth, Thin upper lip...	OMIM:601088
Elsahy-Waters Syndrome	Bifid uvula, Anal stenosis, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick ...	OMIM:211380
Chime Syndrome	Abnormality of the dentition, Abnormal dental morphology, Microdontia, Hypodontia, Brachycephaly,...	ORPHA:3474
White-Sutton Syndrome	Downturned corners of mouth, Open mouth, Narrow mouth, Thin upper lip vermilion, Short philtrum, ...	ORPHA:468678
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bifid uvula, Long philtrum, Widely spaced teeth, Muscular ventricular septal defect, Thick lower ...	OMIM:612474
Den Hoed-De Boer-Voisin Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ...	OMIM:619229
X-Linked Dominant Chondrodysplasia Punctata	High palate, Flexion contracture, Microphthalmia	ORPHA:35173
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Anophthalmia, Microphthalmia	ORPHA:2470
Proboscis Lateralis	Long philtrum, Anophthalmia, Ventricular septal defect, Orofacial cleft, Agenesis of canine, Micr...	ORPHA:141099
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Joubert Syndrome 2	Hydrocephalus, High palate, Encephalocele, Microphthalmia	OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Muscular dystrophy, Encephalocele, Hydrocephalus, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Brachycephaly	OMIM:610968
Fucosidosis	Abnormality of the dentition, Brachycephaly	ORPHA:349
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Stillbirth, Cleft upper lip, Elbow flexion contracture, Microphthalmia...	OMIM:268300
Kaufman Oculocerebrofacial Syndrome	Carious teeth, Diastema, Intestinal malrotation, Narrow mouth, Thin upper lip vermilion, Smooth p...	OMIM:244450
Chromosome 2Q37 Deletion Syndrome	Brachycephaly	OMIM:600430
Fanconi Anemia, Complementation Group E	Abnormal heart morphology, Microphthalmia	OMIM:600901
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Microphthalmia, Optic nerve hypoplasia	OMIM:206900
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of the dentition, Microphthalmia	ORPHA:1806
X-Linked Intellectual Disability, Snyder Type	Dental crowding, Thick lower lip vermilion, Narrow mouth, Smooth philtrum, Brachycephaly, Everted...	ORPHA:3063
Incontinentia Pigmenti	Delayed eruption of teeth, Umbilical hernia, Abnormal dental enamel morphology, Abnormal dental m...	ORPHA:464
Weill-Marchesani Syndrome 1	Tooth malposition, Abnormal dental morphology, Brachycephaly, Narrow palate, Broad skull	OMIM:277600
Mesomelic Dysplasia, Nievergelt Type	Dolichocephaly, Brachycephaly	ORPHA:2633
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Thick vermilion border, Patent foramen ovale, Microdontia, Smooth philtrum, Atrial septal defect,...	OMIM:620005
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Brachycephaly, Narrow palate, Cleft lip, Cleft palate	OMIM:618223
7Q11.23 Microduplication Syndrome	Dental malocclusion, Diastema, Short lingual frenulum, Thin upper lip vermilion, Brachycephaly, H...	ORPHA:96121
Gorlin Syndrome	Carious teeth, Brachycephaly, Orofacial cleft, Hydrocephalus, Odontogenic keratocysts of the jaw,...	ORPHA:377
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Downturned corners of mouth, Widely spaced teeth, Thin upper lip vermilion, Brachycephaly, Fronta...	OMIM:616728
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Downturned corners of mouth, Long philtrum, Tented upper lip vermilion, Exag...	ORPHA:369837
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Eclabion, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, C...	OMIM:619950
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Fanconi Anemia, Complementation Group A	Abnormal heart morphology, Microphthalmia	OMIM:227650
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal dental enamel morphology, Anophthal...	ORPHA:2556
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Brachycephaly, Deep philtrum, High palate, Narrow palate, Wide mouth	OMIM:227330
Dubowitz Syndrome	Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Hypoplasia of the iris, A...	OMIM:223370
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Long philtrum, Cleft upper lip, Ectopic anus, Esophageal atresia, Bifid tongue, An...	ORPHA:93271
Acrodysostosis 1 With Or Without Hormone Resistance	Dental malocclusion, Delayed eruption of teeth, Hypodontia, Brachycephaly, Hydrocephalus, Calvari...	OMIM:101800
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Phace Syndrome	Abnormal heart morphology, Tetralogy of Fallot, Abnormal cardiac septum morphology, Microphthalmi...	ORPHA:42775
Mowat-Wilson Syndrome	Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed...	ORPHA:2152
Trichothiodystrophy 1, Photosensitive	Triangular mouth, Flexion contracture, Microphthalmia	OMIM:601675
Monosomy 9P	Abnormality of the dentition, Long philtrum, Trigonocephaly, Calvarial skull defect, Narrow mouth...	ORPHA:261112
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Fanconi Anemia, Complementation Group C	Microphthalmia, Flexion contracture, Ventricular septal defect	OMIM:227645
Congenital Myopathy 13	Brachycephaly, High palate, Downturned corners of mouth, Cleft palate	OMIM:255995
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Congenital diaphragmatic hernia, Ventricular septal defect, Atr...	OMIM:312870
Nijmegen Breakage Syndrome	Anal stenosis, Deep philtrum, Anal atresia, Non-midline cleft of the upper lip, Cleft palate	ORPHA:647
Papillorenal Syndrome	Edema, Microphthalmia	OMIM:120330
Liver Disease, Severe Congenital	Protein-losing enteropathy, Umbilical hernia, Plagiocephaly, Chronic gastritis	OMIM:619991
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Meningocele, Dermal sinus tract	OMIM:600145
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Kbg Syndrome	Long philtrum, Macrodontia, Tented upper lip vermilion, Oligodontia, Brachycephaly, Widely-spaced...	OMIM:148050
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Natal tooth, Narrow mouth, Supernumerary tooth...	ORPHA:2108
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Long philtrum, Microphthalmia	OMIM:615877
Hoxha-Aliu Syndrome	Brachycephaly, High palate	OMIM:620662
Pmm2-Cdg	Anasarca, Long philtrum, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Th...	ORPHA:79318
Craniofacial Microsomia 1	Hypoplasia of facial musculature, Occipital encephalocele, Cleft upper lip, Tetralogy of Fallot, ...	OMIM:164210
Oculoauricular Syndrome	Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta, Short mand...	OMIM:612109
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Tracheoesophageal fistula, Esophageal atresia	OMIM:619859
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Wide mouth, Cleft palate	OMIM:614207
Menkes Disease	Brachycephaly	OMIM:309400
Branchiooculofacial Syndrome	Abnormality of the dentition, Cleft upper lip, Branchial anomaly, Lower lip pit, Dolichocephaly, ...	OMIM:113620
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Microphthalmia, High palate, Hypoplasia of teeth, Cleft palate	OMIM:603457
8Q24.3 Microdeletion Syndrome	Branchial cyst, Bilateral microphthalmos, Long philtrum, Abnormal heart morphology, Atrioventricu...	ORPHA:508488
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Total anomalous pulmonary venous return, Knee flexion contracture, Atrial septal defect, Torticol...	OMIM:609945
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Long philtrum, Thick lower lip vermilion, Trigonocephaly, Narrow mouth, Oligodontia, Thin upper l...	OMIM:309590
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Specc1L-Related Hypertelorism Syndrome	Long philtrum, Umbilical hernia, Advanced eruption of teeth, Orofacial cleft, Brachycephaly, Ever...	ORPHA:1519
Metaphyseal Chondrodysplasia, Jansen Type	Tooth malposition, Brachycephaly	OMIM:156400
Warburg Micro Syndrome 2	Flexion contracture, Microphthalmia	OMIM:614225
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Fraser Syndrome 2	Oligohydramnios, Narrow mouth, Microphthalmia	OMIM:617666
De Barsy Syndrome	Delayed eruption of teeth, Umbilical hernia, Narrow mouth, Brachycephaly, Small, conical teeth, H...	ORPHA:2962
Frank-Ter Haar Syndrome	Dental malocclusion, Gingival overgrowth, Thin upper lip vermilion, Brachycephaly, High palate, W...	OMIM:249420
Weill-Marchesani Syndrome 2	Tooth malposition, Umbilical hernia, Abnormal dental morphology, Brachycephaly, High palate, Narr...	OMIM:608328
Trichothiodystrophy	High, narrow palate, Carious teeth, Bilateral microphthalmos, Umbilical hernia, Cardiomyopathy, M...	ORPHA:33364
Fanconi Anemia, Complementation Group D2	Abnormal heart morphology, Hydrocephalus, Microphthalmia	OMIM:227646
Hardikar Syndrome	Unilateral cleft lip, Umbilical hernia, Intestinal malrotation, Cleft soft palate, Bilateral clef...	OMIM:301068
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Brachycephaly	OMIM:620073
Neuroocular Syndrome 1	Short uvula, Downturned corners of mouth, Umbilical hernia, Widely spaced teeth, Ankyloglossia, P...	OMIM:619539
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Thin upper lip vermilion, Brachycephaly	ORPHA:456312
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Cleft palate, Microphthalmia	ORPHA:2714
X-Linked Intellectual Disability, Armfield Type	Downturned corners of mouth, Brachycephaly, Short philtrum, Wide mouth, Cleft palate	ORPHA:85276
Acrofacial Dysostosis, Cincinnati Type	Cleft lip, Median pseudocleft lip, Calvarial skull defect, Hypodontia, Hydrocephalus, Aqueductal ...	OMIM:616462
Incontinentia Pigmenti	Conical tooth, Delayed eruption of teeth, Oligodontia, Hypoplasia of the fovea, Hypodontia, Micro...	OMIM:308300
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Alpha-Mannosidosis, Infantile Form	Cranial hyperostosis, Umbilical hernia, Widely spaced teeth, Thickened calvaria, Brachycephaly, M...	ORPHA:309282
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Agenesis of permanent teeth, Microdontia, Microphthalmia, High palate,...	OMIM:268400
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Long philtrum, Umbilical hernia, Intestinal malrotation, Narrow mouth, Thin upper lip vermilion, ...	OMIM:601776
Cockayne Syndrome Type 3	Carious teeth, Skeletal muscle atrophy, Cardiomyopathy, Enamel hypoplasia, Microphthalmia, Flexio...	ORPHA:90324
Pallister-Hall Syndrome	Bifid uvula, Cleft lip, Natal tooth, Microglossia, Umbilical hernia, Atrioventricular canal defec...	ORPHA:672
Mowat-Wilson Syndrome	Tooth malposition, Delayed eruption of teeth, Widely spaced teeth, Abnormal heart morphology, Sub...	OMIM:235730
Cartilage-Hair Hypoplasia	Spinal dysraphism, Gingival overgrowth, Abnormal palate morphology, Aganglionic megacolon, Brachy...	ORPHA:175
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Fanconi Anemia, Complementation Group L	Hydrocephalus, Cleft palate, Microphthalmia	OMIM:614083
Mandibuloacral Dysplasia Progeroid Syndrome	Long philtrum, Narrow mouth, Hypodontia, Brachycephaly, Intra-oral hyperpigmentation, High palate...	OMIM:619127
Acro-Renal-Ocular Syndrome	Tetralogy of Fallot, Optic disc hypoplasia, Microphthalmia	ORPHA:959
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Ventricular septal defect	OMIM:259770
Hyperparathyroidism, Transient Neonatal	Brachycephaly, Communicating hydrocephalus, Frontal bossing, Umbilical hernia	OMIM:618188
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ankle flexion contracture, Bilateral microphthalmos, Camptodactyly of finger, Narrow mouth, Multi...	ORPHA:468631
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Plagiocephaly	OMIM:613355
Microphthalmia, Syndromic 1	High, narrow palate, Tooth malposition, Joint contracture of the hand, Dental crowding, Cleft upp...	OMIM:309800
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Multicentric Osteolysis, Nodulosis, And Arthropathy	Brachycephaly, Gingival overgrowth, Frontal bossing, Delayed eruption of teeth	OMIM:259600
Carpenter Syndrome 2	High, narrow palate, Narrow palate, Carious teeth, Dental malocclusion, Long philtrum, Umbilical ...	OMIM:614976
Witteveen-Kolk Syndrome	High, narrow palate, Branchial fistula, Long philtrum, Thick lower lip vermilion, Narrow mouth, O...	OMIM:613406
Blepharophimosis, Ptosis, And Epicanthus Inversus	High palate, Microphthalmia	OMIM:110100
Skin Creases, Congenital Symmetric Circumferential, 2	Carious teeth, Narrow mouth, Microdontia, Thin upper lip vermilion, Microphthalmia, Cleft palate	OMIM:616734
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Brachycephaly, Short philtrum, Umbilical hernia	OMIM:611962
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Cockayne Syndrome B	Carious teeth, Dental malocclusion, Hypoplasia of the iris, Delayed eruption of primary teeth, Mi...	OMIM:133540
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Lig4 Syndrome	Brachycephaly	OMIM:606593
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Anal stenosis, Brachycephaly, Esophageal atresia	OMIM:250250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Muscular dystrophy, Hypoplasia of the retina, Everted lower lip vermilion, Hydrocephalus, Microph...	OMIM:253280
Cockayne Syndrome	Carious teeth, Dental malocclusion, Skeletal muscle atrophy, Congenital contracture, Contractures...	ORPHA:191
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion, Microphthalmia	OMIM:608940
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Thin upper lip vermilion, Brachycephaly, Steatorrhea	OMIM:616263
Traboulsi Syndrome	Bifid uvula, High palate, Dental malocclusion, Microphthalmia	OMIM:601552
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Anteriorly placed anus, Narrow mouth, Turricephaly, Brachycephaly, Hydroceph...	ORPHA:95699
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Brachycephaly	ORPHA:371428
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Long philtrum, Brachycephaly, Thin vermilion border, High palate, Frontal bossin...	OMIM:617157
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Tooth malposition, Open mouth, Bicuspid aortic valve, Microphthalmia, Tetr...	ORPHA:261537
Noonan Syndrome With Multiple Lentigines	Spina bifida occulta, Brachycephaly	ORPHA:500
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Cleft lip, Meckel diverticulum, Intestinal malrotation, Bra...	OMIM:265380
Thrombocytopenia-Absent Radius Syndrome	Brachycephaly, Meckel diverticulum, Spina bifida, Cleft palate	OMIM:274000
Wiedemann-Rautenstrauch Syndrome	Abnormality of the dentition, Natal tooth, Downturned corners of mouth, Narrow mouth, Submucous c...	ORPHA:3455
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Abnormality of the dentition, Tooth malposition, Long philtrum, Gingival overgrowth, Thick vermil...	ORPHA:480880
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Downturned corners of mouth, Long philtrum, Delayed eruption of teeth, Narrow mouth,...	OMIM:264090
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Tooth malposition, Open mouth, Ventricular septal defect, Bicuspid aortic ...	ORPHA:261552
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela...	ORPHA:666
Common Variable Immunodeficiency	Brachycephaly, Anal atresia, Gastrointestinal stroma tumor	ORPHA:1572
Cornelia De Lange Syndrome	Downturned corners of mouth, Long philtrum, Widely spaced teeth, Intestinal malrotation, Delayed ...	ORPHA:199
Down Syndrome	Duodenal stenosis, Protruding tongue, Aganglionic megacolon, Brachycephaly, Macroglossia, Anal at...	OMIM:190685
14Q22Q23 Microdeletion Syndrome	Brachycephaly, Downturned corners of mouth	ORPHA:264200
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Frontal bossing, Agenesi...	OMIM:619503
Monosomy 13Q14	Holoprosencephaly, Microphthalmia	ORPHA:1587
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Brachycephaly, Thick vermilion border, Thick lower lip vermilion	OMIM:610442
Viss Syndrome	High, narrow palate, Bifid uvula, Broad uvula, Celiac disease, Umbilical hernia, Intestinal malro...	OMIM:619472
Congenital Disorder Of Deglycosylation 1	Brachycephaly, Open mouth	OMIM:615273
Townes-Brocks Syndrome	Tetralogy of Fallot, Abnormal pulmonary valve morphology, Atrial septal defect, Abnormal cardiac ...	ORPHA:857
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Aspartylglucosaminuria	Thick lower lip vermilion, Thickened calvaria, Brachycephaly, Macroglossia, Wide mouth	OMIM:208400
1P36 Deletion Syndrome	Long philtrum, Narrow mouth, Abnormal intestine morphology, Brachycephaly, Abnormality of the anu...	ORPHA:1606
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Bilateral microphthalmos	ORPHA:93325
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Enamel hypoplasia, Camptodactyly of finger, Microphthalmia	OMIM:309000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hydrocephalus, Brachycephaly, Gastric ulcer, Esophageal varix	ORPHA:2072
Norrie Disease	Thin vermilion border, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Facial paralysis, Hydrocephalus, Microphthalmia	OMIM:175780
Primrose Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Narrow mouth, Torus palatinus, Brachyceph...	OMIM:259050
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Anteriorly placed anus, Brachycephaly, Craniosynostosis, Frontal bossing, Cloverleaf skull	OMIM:201750

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 Pgap2

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 Pgap2.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Pgap2^{tm1b(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Pgap2^{tm1b(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Pgap2^{tm1b(EUCOMM)Wtsi}	PMC6671969
Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival.	eLife (June 2019)	Pgap2^{tm1a(EUCOMM)Wtsi}	PMC6611694
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Pgap2^{tm1b(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Pgap2^{tm1b(EUCOMM)Wtsi}	PMC5827107

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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
Pgap2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Pgap2^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Pgap2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Pgap2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pgap2 MGI:2385286

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Anti-nuclear antibody assay

X-ray

X-ray

Eye Morphology

X-ray

DSS Histology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Pgap2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data