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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 Whole Body Lateral Orientation

14 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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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Ophthalmoscopy

2 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 (856 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		Tented upper lip vermilion, Aganglionic megacolon, Brachycephaly, Plagiocephaly, Anteriorly place...	ORPHA:247262
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3		Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Wide mouth	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
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums	ORPHA:401942
Syngnathia	Cleft palate	OMIM:119550
Telecanthus	Anodontia, Bilateral cleft lip and palate	OMIM:187350
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Parietal Foramina 1	Parietal foramina, Encephalocele, Cleft palate, Cleft upper lip	OMIM:168500
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Anencephaly 2	Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Isolated Dandy-Walker Malformation	Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia	ORPHA:217
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Thomas Syndrome	Cleft upper lip, Cleft palate, Dolichocephaly	ORPHA:3316
Choanal Atresia And Lymphedema	Pericardial effusion, High palate, Lymphedema	OMIM:613611
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
Holzgreve Syndrome	Cleft palate, Cleft upper lip	OMIM:236110
Kleefstra Syndrome 2	Plagiocephaly, Bifid uvula, Everted lower lip vermilion, Midface retrusion	OMIM:617768
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Diprosopus	Non-midline cleft lip, Anencephaly, Cleft palate	ORPHA:1681
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus	ORPHA:2476
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef...	OMIM:613885
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Cleft palate, Plagiocephaly, Downturned corners of mouth, Ectopic anus, Short philtrum	ORPHA:94066
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Disorganization, Mouse, Homolog Of	Cleft palate, Cleft upper lip	OMIM:223200
Mmep Syndrome	Microphthalmia, Median cleft lip, Ventricular septal defect, Orofacial cleft	ORPHA:3434
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing, Dental crowding	OMIM:619264
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Pierre Robin Sequence With Facial And Digital Anomalies	Frontal bossing, Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:311895
Facial Clefting, Oblique, 1	Cleft palate, Cleft upper lip	OMIM:600251
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Sporadic Fetal Brain Disruption Sequence	Prominent occiput, Plagiocephaly	ORPHA:1665
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Long philtrum, Midface retru...	OMIM:618577
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Deep philtrum, Orofacial cleft, Plagiocephaly, Incomplete cleft of the up...	ORPHA:77300
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
X-Linked Intellectual Disability, Siderius Type	Orofacial cleft, Cleft upper lip	ORPHA:85287
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, High palate, Short philtrum, Dolichocephaly	OMIM:615433
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:261800
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Cleft upper lip	OMIM:120433
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Non-midline cleft lip	ORPHA:2007
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Cleft palate, Plagiocephaly, High palate, Tooth malposition	OMIM:618603
Developmental And Epileptic Encephalopathy 65	Plagiocephaly, Tented upper lip vermilion	OMIM:618008
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi...	OMIM:616602
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly, Thick vermilion border	OMIM:619927
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Frontal bossing, Oligodontia, Thin upper lip vermilion	OMIM:618330
Cebalid Syndrome	Turricephaly, Platystencephaly, Brachycephaly, Plagiocephaly, High palate, Dolichocephaly, Midfac...	OMIM:618774
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Cleft palate	ORPHA:85273
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:1484
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Cleft lip, Narrow mouth, Cleft palate, Plagiocephaly, Downturned corners of mouth, Everted lower ...	OMIM:618089
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Arthrogryposis multiplex congenita, Cleft palate, Edema	OMIM:616570
Schisis Association	Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cle...	ORPHA:63862
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Pericardial effusion, Wide mouth, Long philtrum, Upturned corners of mouth	OMIM:614684
Hartsfield Syndrome	Encephalocele, Craniosynostosis, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly	ORPHA:2117
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Cleft palate, Cleft upper lip	OMIM:611561
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium...	OMIM:615524
Cantu Syndrome	Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Thick lower lip vermilion,...	OMIM:239850
2q33.1 deletion syndrome	High palate, Cleft palate	DECIPHER:51
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Macrodontia, Plagiocephaly, Tooth agenesis, Downturned corners of mouth, Short philtrum, Midface ...	OMIM:618731
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Cleft upper lip, High, narrow palate, Cleft palate, Brachyturricephaly, Ethmoida...	OMIM:607597
Xk Aprosencephaly Syndrome	Ventricular septal defect, Polyhydramnios, Narrow mouth, Atrial septal defect, Microphthalmia	ORPHA:3469
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Cleft palate, Plagiocephaly, Decreased calvarial ossification, Trigonocephaly	OMIM:618265
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Holoprosenc...	OMIM:601357
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Adenylosuccinate Lyase Deficiency	Thin upper lip vermilion, Flat occiput, Brachycephaly, Long philtrum, Smooth philtrum	ORPHA:46
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
6Q25 Microdeletion Syndrome	Plagiocephaly, High palate, Cleft palate, Long philtrum	ORPHA:251056
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Wide mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachycephaly	OMIM:309545
Microphthalmia, Syndromic 8	Widely-spaced maxillary central incisors, Cleft palate, Orofacial cleft, Cleft upper lip	OMIM:601349
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Ascites, Oligo...	OMIM:614702
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Prominent occiput, Plagiocephaly, Downturned corners of mouth, Short philtrum, Dol...	OMIM:618672
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia	OMIM:611638
Congenital Disorder Of Glycosylation, Type Il	Edema, Pericardial effusion, Wide mouth, Abnormal cardiac septum morphology, Long philtrum, Ascites	OMIM:608776
Faciocardiorenal Syndrome	Cleft palate, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum	ORPHA:1973
Coffin-Siris Syndrome 6	Frontal bossing, High, narrow palate, Deep philtrum, Cleft palate, Plagiocephaly, Short philtrum	OMIM:617808
Split hand/foot malformation 1 (SHFM1)	Median cleft lip, Cleft palate	DECIPHER:46
Band Heterotopia	Plagiocephaly, Hydrocephalus	OMIM:600348
Adams-Oliver Syndrome 4	Atrial septal defect, Microphthalmia, Umbilical hernia, Ventricular septal defect	OMIM:615297
Muenke Syndrome	High, narrow palate, Hydrocephalus, Brachycephaly, Plagiocephaly, Coronal craniosynostosis	ORPHA:53271
Congenital Heart Block	Pericardial effusion, Hydrops fetalis, Peripheral edema, Endocardial fibroelastosis, Pleural effu...	ORPHA:60041
Orofaciodigital Syndrome Type 5	Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral...	ORPHA:2919
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Brachycephaly, Plagiocephaly, Macroglossia, Wide mouth, Everted lower lip vermil...	OMIM:616789
Muenke Syndrome	Dental malocclusion, Brachycephaly, Plagiocephaly, High palate, Coronal craniosynostosis, Midface...	OMIM:602849
Acalvaria	Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly, Calvarial skull defect	ORPHA:945
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly, Narrow palate	OMIM:615516
Zechi-Ceide Syndrome	Oligodontia, Midface retrusion, Cleft palate, Cleft upper lip	OMIM:612916
Charlie M Syndrome	Non-midline cleft lip, Tooth agenesis, Thin vermilion border, Short philtrum, Narrow mouth	ORPHA:1406
Congenital Pulmonary Lymphangiectasia	Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites	ORPHA:2414
Craniofrontonasal Dysplasia	Frontal bossing, Craniosynostosis, Abnormality of the dentition, Brachycephaly, Orofacial cleft, ...	ORPHA:1520
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Cleft palate, Plagiocephaly, Microdontia	OMIM:605282
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Thin upper lip vermilion, Tented upper lip vermilion, Plagiocephaly, High palate, Short philtrum,...	OMIM:616579
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Brachycephaly, Plagiocepha...	OMIM:618430
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Frontal bossing, Thin upper lip vermilion, Brachycephaly, Plagiocephaly, Short philtrum, Open mou...	OMIM:616801
Lessel-Kreienkamp Syndrome	Frontal bossing, Thin upper lip vermilion, Scaphocephaly, Dental malocclusion, Plagiocephaly, Ope...	OMIM:619149
Pai Syndrome	Encephalocele, Median cleft lip, Cleft palate, Abnormal oral frenulum morphology, Bifid uvula	ORPHA:1993
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Plagiocephaly, Thin upper lip vermilion, High palate, Brachycephaly	OMIM:618862
Genitopalatocardiac Syndrome	Ventricular septal defect, Cleft upper lip, Cleft palate, Transposition of the great arteries, Do...	OMIM:231060
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Frontal bossing, Tented upper lip vermilion, Exaggerated cupid's bow, Narrow mouth, Deep philtrum...	OMIM:619720
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft	OMIM:141400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Hyd...	OMIM:239300
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly, Smooth philtrum, Long philtrum	OMIM:618821
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Midface retrusion, Cleft palate	OMIM:300261
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Cleft palate, Hypodontia, Microdontia, Anodontia	OMIM:225060
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate	OMIM:600776
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Hydrocephalus, Brachycephaly, Dolichocephaly	ORPHA:272
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, High palate, Bifid uvula	OMIM:155145
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Plagiocephaly, Narrow palate	OMIM:617481
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Bifid uvula, Brachycephaly, Cleft palate, Cleft upper lip	OMIM:300958
Autosomal Recessive Amelia	Non-midline cleft lip, Abnormal cardiac septum morphology, Orofacial cleft, Polyhydramnios	ORPHA:1027
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly, Tented upper lip vermilion, High palate	OMIM:620149
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Polyhydramnios, Pericardial effusion, Carious teeth, Multiple muscular ventricular septal defects...	OMIM:620070
Parc Syndrome	Cleft palate	OMIM:600331
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Cleft palate, Cleft upper lip	ORPHA:398189
Unilateral Ocular Duplication	Encephalocele, Frontal bossing, Median cleft lip, Cleft palate, Dolichocephaly	ORPHA:3374
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Blepharocheilodontic Syndrome 1	Cleft upper lip, Conical tooth, Neural tube defect, Hypodontia, Anal atresia	OMIM:119580
Orofaciodigital Syndrome Viii	Median cleft lip, High palate, Cleft palate	OMIM:300484
Intellectual Disability, Wolff Type	Non-midline cleft lip, Thick lower lip vermilion, Abnormal intestine morphology, Orofacial cleft	ORPHA:3080
Weaver-Williams Syndrome	Cleft palate, Narrow mouth	ORPHA:3448
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Pulmonary edema, Cardiomegaly, Pericardial effusion, Muscular ventricula...	OMIM:115197
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Plagiocephaly, Le...	OMIM:614749
Anophthalmia Plus Syndrome	Cleft palate, Non-midline cleft lip, Spina bifida, Bilateral cleft lip and palate	ORPHA:1104
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Plagiocephaly, Downturned corners of mouth, Macroglossia, Wide mouth, High palate,...	ORPHA:369891
Adducted Thumbs Syndrome	Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate	OMIM:201550
Chromosome 1Q41-Q42 Deletion Syndrome	Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Deep phil...	OMIM:612530
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Frontal bossing, Brachycephaly, Plagiocephaly, Dolichocephaly, Midface retrusion, Long philtrum	OMIM:619721
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ...	ORPHA:60015
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot, Unilateral cleft lip	ORPHA:1919
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Crowded maxillary incisors, Narrow palate, Plagiocephaly, Tooth agenesis, Multiple unerupted teet...	ORPHA:2063
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Osteogenesis Imperfecta, Type Xx	Tented upper lip vermilion, Brachycephaly, Narrow palate, Agenesis of permanent teeth, Plagioceph...	OMIM:618644
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Tented upper lip vermilion, Brachycephaly, Long philtrum	OMIM:619972
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Plagiocephaly, Wide mouth, High ...	OMIM:618106
Intellectual Developmental Disorder, Autosomal Recessive 13	Downturned corners of mouth, Short philtrum, Smooth philtrum, Cleft upper lip	OMIM:613192
Keratoconus Posticus Circumscriptus	Cleft palate, Cleft upper lip	OMIM:244600
Bresek Syndrome	Plagiocephaly, Hydrocephalus, Aganglionic megacolon, Cleft palate	ORPHA:85284
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Hogue-Janssen Syndrome 2	Plagiocephaly, Hydrocephalus, Tented upper lip vermilion, Open mouth	OMIM:616362
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Hydrocephalus, Flexion contracture, Cardiomyopathy, Macroglossia, Calf muscle hyper...	OMIM:613155
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Tooth agenesis, Non-midline cleft lip, Meningocele, Bilateral cleft lip and palate	ORPHA:2003
Distal Monosomy 7Q36	Non-midline cleft lip, Cleft palate, Wide mouth, Abnormal calvaria morphology, Holoprosencephaly	ORPHA:1636
Dihydropyrimidinase Deficiency	Plagiocephaly, Anal atresia	OMIM:222748
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Houge-Janssens Syndrome 3	Frontal bossing, Plagiocephaly, High palate, Short philtrum, Umbilical hernia	OMIM:618354
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion	OMIM:616898
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Parietal foramina...	ORPHA:85199
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Brachycephaly, Cleft palate, Downturned corners of mouth, High palate, Long phil...	ORPHA:163649
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Short lingual frenulum, Prominent occiput, Plagiocephaly, Downturned co...	OMIM:617360
Holoprosencephaly 4	Median cleft lip and palate, Median cleft lip, Semilobar holoprosencephaly	OMIM:142946
Malan Overgrowth Syndrome	Frontal bossing, Scaphocephaly, Plagiocephaly, High palate, Narrow mouth	ORPHA:420179
Weyers Ulnar Ray/Oligodactyly Syndrome	Solitary median maxillary central incisor, High palate, Cleft palate, Cleft upper lip	OMIM:602418
Frontonasal Dysplasia 1	Median cleft lip, Anterior basal encephalocele, Tetralogy of Fallot, Pectoral muscle hypoplasia/a...	OMIM:136760
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Bilateral cleft lip	OMIM:616994
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate	ORPHA:2432
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Orofacial cleft, Microphthalmia, Congenital muscular dyst...	ORPHA:324416
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hyd...	OMIM:235510
Blepharophimosis-Impaired Intellectual Development Syndrome	Frontal bossing, Thin upper lip vermilion, Exaggerated cupid's bow, Dental malocclusion, Plagioce...	OMIM:619293
Intellectual Developmental Disorder, Autosomal Dominant 64	Thin upper lip vermilion, Plagiocephaly, High palate, Short philtrum, Smooth philtrum	OMIM:619188
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft palate, Cleft upper lip	OMIM:214300
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Trigonocephaly, Cleft palate	ORPHA:1779
Summitt Syndrome	Plagiocephaly, Craniosynostosis	ORPHA:3210
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate, Craniosynostosis	OMIM:600252
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr...	OMIM:261740
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia, Cleft palate, Polyhydramnios	ORPHA:261272
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Pierre-Robin sequence, Midface retrusion, Cleft palate	OMIM:184840
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Short Stature And Facioauriculothoracic Malformations	High palate, Cleft palate, Cleft upper lip	OMIM:609654
Acrofrontofacionasal Dysostosis	Non-midline cleft lip, Brachycephaly, Cleft palate, Everted lower lip vermilion, High palate, Mid...	ORPHA:1784
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Tented upper lip vermilion, Exaggerated cupid's bow, Hydrocephalus, Deep philtrum, Plagiocephaly,...	OMIM:619833
Ritscher-Schinzel Syndrome 4	Brachycephaly, Narrow palate, Plagiocephaly, Wide mouth, Thick vermilion border, High palate, Sho...	OMIM:619435
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Plagiocephaly, Short philt...	ORPHA:371364
Trisomy 20P	Frontal bossing, Spina bifida, Abnormality of the dentition, Brachycephaly, Plagiocephaly, Downtu...	ORPHA:261318
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Palate fistula, Midface...	OMIM:616788
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Cleft palate, Mitral valve p...	OMIM:612561
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ...	OMIM:611134
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Prune1-Related Neurological Syndrome	Plagiocephaly, Tongue fasciculations	ORPHA:544469
Trisomy 8Q	Myelomeningocele, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum mo...	ORPHA:1752
Richieri-Costa/Guion-Almeida Syndrome	Spina bifida occulta, Brachycephaly, Cleft palate, Cleft upper lip	OMIM:268850
Congenital Tricuspid Valve Dysplasia	Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a...	ORPHA:555874
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the dentition, Thick lower lip vermilion, Brachycephaly, Plagiocephal...	ORPHA:261652
Triploidy	Polyhydramnios, Hydrocephalus, Meningocele, Non-midline cleft lip, Cleft palate, Wide mouth, Macr...	ORPHA:3376
Pallister-Hall-Like Syndrome	Occipital encephalocele, Median cleft lip, Hydrocephalus, Cleft palate, Microglossia	OMIM:241800
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Flat occiput, Tented upper lip vermilion, Plagiocephaly, Thick vermilion border, High palate, Lon...	OMIM:619383
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Ascites, Cardiomegaly	ORPHA:858
Burn-Mckeown Syndrome	Cleft upper lip, Cleft palate, Thin vermilion border, Short philtrum, Narrow mouth, Bifid uvula	OMIM:608572
Fg Syndrome Type 1	Dental crowding, Craniosynostosis, Abnormal large intestine morphology, Malrotation of colon, Pyl...	ORPHA:93932
Pentasomy X	Plagiocephaly	ORPHA:11
Neurogenic Arthrogryposis Multiplex Congenita	Plagiocephaly, Scaphocephaly	ORPHA:1143
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Downturned corners of mouth, Atrial septal defect, Micro...	OMIM:618652
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly	OMIM:614563
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Non-midline cleft lip, Cleft palate, Spin...	ORPHA:1908
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Thin upper lip vermilion, Intestinal malrotation, Craniosynostosis, Cleft palate, Plagiocephaly, ...	ORPHA:457193
Holoprosencephaly 7	Frontal bossing, Bilateral cleft palate, Flat occiput, Median cleft lip, Bilateral cleft lip, Med...	OMIM:610828
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig...	ORPHA:314575
Hyperphosphatasia-Intellectual Disability Syndrome	Tented upper lip vermilion, Aganglionic megacolon, Brachycephaly, Plagiocephaly, Anteriorly place...	ORPHA:247262
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormality of the dentition, Cleft palate, Orofacial...	ORPHA:915
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Frontal bossing, Dental crowding, Brachycephaly, Plagiocephaly, Short philtrum	OMIM:617296
Frontofacionasal Dysplasia	Encephalocele, Non-midline cleft lip, Brachycephaly, Cleft palate, Midface retrusion	ORPHA:1791
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, High palate, Skeletal muscle atrophy	OMIM:620089
Alkuraya-Kucinskas Syndrome	Edema, Pericardial effusion, Hydrocephalus, High palate, Camptodactyly, Arthrogryposis multiplex ...	OMIM:617822
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Congenital diaphragmatic hernia, Long philtrum, Atrial septal defect, Mi...	OMIM:300887
Multiple Pterygium Syndrome, X-Linked	Polyhydramnios, Edema, Cleft upper lip, Flexion contracture, Cleft palate, Amyoplasia, Hypoplasti...	OMIM:312150
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, Plagioc...	ORPHA:457279
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Hydrocephalus, Ventricular septal defect, Smooth philtrum	OMIM:602501
Isotretinoin Syndrome	Spina bifida occulta, Biparietal narrowing, Cleft palate	ORPHA:2305
2Q24 Microdeletion Syndrome	Camptodactyly of finger, Cleft palate, Abnormal oral frenulum morphology, Short philtrum, Microph...	ORPHA:1617
Hydrolethalus	Anophthalmia, Polyhydramnios, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Gingival c...	ORPHA:2189
Raine Syndrome	Natal tooth, Protruding tongue, Hydrocephalus, Brachycephaly, Gingival overgrowth, Cleft palate, ...	OMIM:259775
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Muscular dystrophy	OMIM:614830
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Brachycephaly, Craniosynostosis	OMIM:614416
Vertebral Hypersegmentation And Orofacial Anomalies	Submucous cleft hard palate, Prominent occiput, Unilateral cleft lip, Unilateral cleft palate, Mi...	OMIM:619122
Culler-Jones Syndrome	Midface retrusion, Cleft palate, Cleft upper lip	OMIM:615849
Holoprosencephaly-Caudal Dysgenesis Syndrome	Median cleft lip, Holoprosencephaly, Cleft palate	ORPHA:2165
Chromosome 17P13.1 Deletion Syndrome	Turricephaly, Spina bifida, High, narrow palate, Hydrocephalus, Brachycephaly, Plagiocephaly, Hig...	OMIM:613776
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Macrodontia, Abnormal dental enamel morphology, Cleft palate, Plagiocephaly, Hypodontia	ORPHA:2916
Congenital Enterovirus Infection	Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy...	ORPHA:292
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Narrow mouth, Cleft palate, Plagiocephaly, Downturned corners of mouth, ...	ORPHA:2215
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Plagiocephaly, Spina ...	OMIM:619227
Intellectual Developmental Disorder, Autosomal Dominant 48	Plagiocephaly, Umbilical hernia, Open mouth	OMIM:617751
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Non-midline cleft lip, Cleft palate, Biparietal narrowing, Umbilical...	ORPHA:1770
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Orofacial cleft, Wide mouth, Long philtrum, Trigonocep...	OMIM:243310
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly, Thin upper lip vermilion, Submucous cleft hard palate, Downturned corners of mouth	OMIM:619680
Developmental And Epileptic Encephalopathy 84	Plagiocephaly, Thick lower lip vermilion, Smooth philtrum	OMIM:618792
Waardenburg Syndrome Type 1	Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl...	ORPHA:894
Opitz-Kaveggia Syndrome	Frontal bossing, Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip, Pyloric...	OMIM:305450
Noonan Syndrome 13	Plagiocephaly, Wide mouth, High palate, Widely spaced teeth, Long philtrum, Microdontia, U-Shaped...	OMIM:619087
Fetal Alcohol Syndrome	Thin upper lip vermilion, Non-midline cleft lip, Cleft palate, Biparietal narrowing, Microdontia,...	ORPHA:1915
Holoprosencephaly-Craniosynostosis Syndrome	Plagiocephaly, Holoprosencephaly, Brachycephaly, Craniosynostosis	ORPHA:2163
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, High palate, Narrow mouth	ORPHA:2528
Chromosome 6Pter-P24 Deletion Syndrome	Frontal bossing, Tented upper lip vermilion, Dental crowding, Cleft upper lip, Hydrocephalus, Bra...	OMIM:612582
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, High palate, Midface retrusion, Cleft palate	ORPHA:1135
Juberg-Hayward Syndrome	Anteriorly placed anus, Cleft upper lip	OMIM:216100
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Pierpont Syndrome	Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Widely spaced teeth, Everted lo...	ORPHA:487825
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft lip, Cleft palate	OMIM:612370
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat...	ORPHA:1335
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Frontal bossing, Thin upper lip vermilion, Brachycephaly, Cleft palate, Plagiocephaly, Downturned...	OMIM:610759
Blepharonasofacial Malformation Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate, Long philtrum	ORPHA:1252
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites	ORPHA:36412
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Umbilical hernia, Open mouth	ORPHA:500159
Developmental And Epileptic Encephalopathy 1	Plagiocephaly	OMIM:308350
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Spina bifida occulta...	ORPHA:1787
Frontonasal Dysplasia 2	Encephalocele, Craniosynostosis, Conical tooth, Parietal foramina, Brachycephaly, Widely spaced t...	OMIM:613451
Lymphoproliferative Syndrome 1	Pericardial effusion, Pleural effusion, Stomatitis	OMIM:613011
Cardiomyopathy, Dilated, 1A	Pericardial effusion, Dilated cardiomyopathy	OMIM:115200
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis	ORPHA:231111
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Opitz Gbbb Syndrome	Frontal bossing, Anal atresia, Thin upper lip vermilion, Cleft upper lip, Rectourethral fistula, ...	OMIM:300000
Trisomy 13	Anophthalmia, Ventricular septal defect, Median cleft lip, Abnormality of the dentition, High, na...	ORPHA:3378
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Orofaciodigital Syndrome V	Frontal bossing, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of ...	OMIM:174300
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,...	OMIM:200990
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft palate, Cleft upper lip	OMIM:244200
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Ventricular septal defect, High, narrow palate, Increased nuchal transl...	OMIM:618494
Holoprosencephaly 11	Cleft lip, Holoprosencephaly, Cleft palate	OMIM:614226
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Microphthalmia, Ventricular septal defect	OMIM:613730
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Cleft palate, Abnormal heart morphology, Small thenar eminence, Narrow mouth	OMIM:239800
Orofaciodigital Syndrome Ix	Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palate	OMIM:258865
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,...	OMIM:600987
Aica-Ribosiduria	Wide mouth, Thin upper lip vermilion, Brachycephaly	ORPHA:250977
Nanophthalmos	Microphthalmia	ORPHA:35612
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema	ORPHA:90362
Pediatric Systemic Lupus Erythematosus	Myositis, Edema, Pericardial effusion, Oral ulcer, Pleural effusion, Ascites	ORPHA:93552
Branchio-Oculo-Facial Syndrome	Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis, High palate, Everted lower...	ORPHA:1297
Solitary Median Maxillary Central Incisor	Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus, Solitary med...	OMIM:147250
Oculoauriculovertebral Spectrum With Radial Defects	Non-midline cleft lip, Cleft palate, Orofacial cleft, Wide mouth, Short mandibular rami, EMG: myo...	ORPHA:2549
Smith-Magenis Syndrome	Frontal bossing, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper lip, ...	ORPHA:819
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Thin upper lip vermilion, Tented upper lip vermilion, Bilateral cleft lip, Deep philtrum, Thin ve...	OMIM:618622
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Meningocele, Brachycephaly, Wide mouth, Median cleft palate	ORPHA:1827
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft palate, Cleft upper lip	OMIM:601076
Dystonia-Deafness Syndrome 1	Cleft palate, Cleft upper lip	OMIM:607371
Distal Deletion 10P	Anal atresia, Non-midline cleft lip, Ectopic anus, Cleft palate	ORPHA:1580
Gaucher Disease Type 1	Pericardial effusion, Pedal edema, Gingival bleeding, Abnormal myocardium morphology, Ascites	ORPHA:77259
Trisomy 9P	Dental crowding, Non-midline cleft lip, Brachycephaly, Impacted tooth, Downturned corners of mouth	ORPHA:236
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricula...	OMIM:264480
Craniosynostosis 2	Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern...	OMIM:604757
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Flat occiput, Unilateral cleft lip, Brachycephaly	ORPHA:2511
Robinow-Sorauf Syndrome	Plagiocephaly, Pansynostosis, Craniosynostosis	OMIM:180750
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Downturned corners of mouth, Microphthalmia, Ventricular septal defect, Short philtrum	ORPHA:93267
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy, Muscular dystrophy	ORPHA:300751
Meckel Syndrome, Type 6	Occipital encephalocele, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate	OMIM:612284
Anauxetic Dysplasia 3	Plagiocephaly, Oligodontia, Midface retrusion	OMIM:618853
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Cleft palate, Cleft upper lip	OMIM:313850
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:618775
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Tooth agenesis, Cleft palate, Cleft upper lip	OMIM:147950
Au-Kline Syndrome	Craniosynostosis, Sagittal craniosynostosis, Lipomyelomeningocele, Dental malocclusion, Cleft pal...	OMIM:616580
Acute Interstitial Pneumonia	Pericardial effusion, Pleural effusion, Peripheral edema	ORPHA:79126
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, High palate, Oligohydramnios	OMIM:619053
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat...	ORPHA:2712
Intellectual Disability-Strabismus Syndrome	Abnormality of the dentition, Plagiocephaly, Wide mouth, Thick vermilion border, High palate	ORPHA:363528
Intellectual Developmental Disorder, Autosomal Dominant 66	Plagiocephaly, Brachycephaly	OMIM:619910
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Cleft palate	OMIM:217150
Pierpont Syndrome	Smooth philtrum, Prominent median palatal raphe, Thin vermilion border, Widely spaced teeth, Ever...	OMIM:602342
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Cleft palate	OMIM:614120
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High, narrow palate, Cleft li...	OMIM:616920
Joubert Syndrome 15	Exencephaly	OMIM:614464
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Frontal bossing, Turricephaly, Aganglionic megacolon, Hydrocephalus, Plagiocephaly, Short philtrum	OMIM:613603
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormal oral muc...	ORPHA:2136
Cofs Syndrome	Microphthalmia, Everted lower lip vermilion, Arthrogryposis multiplex congenita, Camptodactyly of...	ORPHA:1466
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Monosomy 18P	Lymphedema, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Holoprosenc...	ORPHA:1598
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th...	ORPHA:3253
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly, Irregular dentition, Cleft palate, Smooth philtrum	OMIM:615656
Frontofacionasal Dysplasia	Cleft upper lip, Brachycephaly, Orofacial cleft, Bifid uvula, Cranium bifidum occultum, Midface r...	OMIM:229400
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Diastema, Agenesis of molar, Supernumerary tooth, Microdontia, Anterior plagiocephaly, Bicoronal ...	OMIM:619718
Chromosome 17Q12 Duplication Syndrome	Facial hypotonia, Cleft soft palate, Atrial septal defect, Microphthalmia, Smooth philtrum	OMIM:614526
Nanophthalmos 4	Microphthalmia	OMIM:615972
Naxos Disease	Cleft upper lip	ORPHA:34217
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Craniosynostosis, Cleft palate, Furrowed tongue, Plagiocephaly, Downturned corners of mouth, Bran...	ORPHA:453499
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Turricephaly, Plagiocephaly, Wide mouth, High palate, Short philtrum, Midface retrusion	OMIM:620224
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus	ORPHA:1528
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, Dilated cardiom...	ORPHA:26793
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Midface retrusion, Broad philtrum	ORPHA:1394
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly	ORPHA:96190
Oculomaxillofacial Dysostosis	Median cleft lip, Cleft palate, Abnormality of the dentition	ORPHA:1794
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag...	ORPHA:2791
Orofaciodigital Syndrome I	Frontal bossing, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Myelomeni...	OMIM:311200
Diaphanospondylodysostosis	Myelomeningocele, Cleft palate	ORPHA:66637
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Aicardi-Goutieres Syndrome 9	Pericarditis, Edema, Pericardial effusion, Lower limb hypertonia, Left ventricular hypertrophy, A...	OMIM:619487
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia, Cleft palate	OMIM:164180
Acropectorovertebral Dysplasia	High, narrow palate, Cleft palate, Spina bifida	ORPHA:957
Congenital Disorder Of Glycosylation, Type Ia	Thin upper lip vermilion, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, F...	OMIM:212065
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Ventricular septal defect, Deep philtrum, Cleft palate, Abnormal heart ...	ORPHA:404440
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Facial hypotonia, Ventricular septal defect, Thin vermilion borde...	ORPHA:85194
Saethre-Chotzen Syndrome	Craniosynostosis, Open bite, Brachycephaly, Narrow palate, Cleft palate, Plagiocephaly	ORPHA:794
Treacher-Collins Syndrome	Encephalocele, Frontal bossing, Branchial fistula, Abnormal dental morphology, Abnormal dental en...	ORPHA:861
Fibrochondrogenesis	Plagiocephaly, Cleft palate, Narrow mouth	ORPHA:2021
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Cl...	OMIM:616897
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema	ORPHA:199241
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Cleft upper lip	OMIM:273400
Alg9-Cdg	Thin upper lip vermilion, Torticollis, Ventricular septal defect, Hypoplasia of the musculature, ...	ORPHA:79328
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Brachycephaly, Orofacial cleft, Cleft palate,...	OMIM:601701
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Hydrocephalus, Meningocele,...	OMIM:614424
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Exaggerated cupid's bow, Spina bifida, Narrow mouth, Plagiocephaly, Thick vermil...	OMIM:619480
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Carious teeth, Flexion contracture, Elbow flexion contracture, Dehydra...	OMIM:214150
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finger, Exaggerated cupid's...	ORPHA:261236
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Orofaciodigital Syndrome Xvii	High, narrow palate, Median cleft lip	OMIM:617926
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Brachycephaly, Plagiocephaly, Downturned corners of mouth, Macroglossia, Wide mo...	OMIM:618268
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Frontal bossing, Cleft lip, Thick lower lip vermilion, Brachycephaly, ...	OMIM:280000
Tetraamelia Syndrome 2	Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate	OMIM:618021
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Myhre Syndrome	Thin upper lip vermilion, Ventricular septal defect, Pericardial effusion, Cleft lip, Narrow mout...	OMIM:139210
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Frontal bossing, Exaggerated cupid's bow, Aqueductal stenosis, Narrow mouth, Hydrocephalus, Brach...	OMIM:619512
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Dolichocephaly, High, narrow palate, Plagiocephaly, Long philtrum, Umbilical hernia	ORPHA:1101
Verloove Vanhorick-Brubakk Syndrome	Non-midline cleft lip, Cleft palate	ORPHA:3429
Atelosteogenesis Type Ii	Thin upper lip vermilion, Bilateral cleft palate, Cleft palate, Plagiocephaly, Long philtrum, Mid...	ORPHA:56304
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites	OMIM:618183
Emanuel Syndrome	Delayed eruption of teeth, Multiple joint contractures, Ventricular septal defect, Truncus arteri...	ORPHA:96170
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Cleft palate	OMIM:601355
Microphthalmia With Limb Anomalies	Frontal bossing, Cleft upper lip, Deep philtrum, Cleft palate, High palate	OMIM:206920
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Rapp-Hodgkin Syndrome	Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, conical teeth...	OMIM:129400
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Plagiocephaly, High palate, Smooth philtrum, Long philtrum	OMIM:300749
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Cleft palate, Atrial septal ...	OMIM:244300
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Thin upper lip vermilion, Ventricular septal defect, High, narrow palate...	ORPHA:435638
Holoprosencephaly 14	Frontal bossing, Median cleft lip, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Clef...	OMIM:619895
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong...	OMIM:618280
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Dental crowding, Plagiocephaly, High palate, Thick vermilion border, Dolichocephaly	OMIM:619005
Aymé-Gripp Syndrome	Thin upper lip vermilion, Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Na...	ORPHA:1272
Poems Syndrome	Pericardial effusion, Pleural effusion, Ascites, Edema	ORPHA:2905
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Hydrocephalus, Cleft palate, Tongue nodules, Lobulated...	OMIM:252100
Classical-Like Ehlers-Danlos Syndrome Type 2	Long uvula, Pericardial effusion, Tooth malposition, Narrow palate, Mitral valve prolapse, High p...	ORPHA:536532
Stevenson-Carey Syndrome	Narrow mouth, Pierre-Robin sequence, Downturned corners of mouth, Camptodactyly, Atrial septal de...	OMIM:611961
Popliteal Pterygium Syndrome	Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Spina bifida occulta, Bifid uvula	OMIM:119500
Carey-Fineman-Ziter Syndrome 1	Pierre-Robin sequence, Cleft palate, Plagiocephaly, Glossoptosis, High palate, Microglossia	OMIM:254940
Hartsfield Syndrome	Median cleft lip, Craniosynostosis, Alobar holoprosencephaly, Cleft upper lip, Cleft palate, Loba...	OMIM:615465
Omodysplasia 2	Frontal bossing, Tented upper lip vermilion, Bilateral cleft lip, Cleft palate, Long philtrum	OMIM:164745
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Plagiocephaly, Flat occiput, High palate, Normal pressure hydrocephalus	ORPHA:300570
7Q31 Microdeletion Syndrome	Plagiocephaly, Wide mouth, Long philtrum	ORPHA:251061
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Congenital diaphragmatic hernia, Polyhydramnios, No...	ORPHA:2059
Neurofaciodigitorenal Syndrome	Plagiocephaly, Abnormal oral mucosa morphology, Abnormality of the philtrum, Brachycephaly	ORPHA:2673
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Thin upper lip vermilion, Lymphedema, Deep philtrum, Thick lower lip vermilion, Long philtrum, Mi...	OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia, Hydrocephalus, Muscular dystrophy	OMIM:613153
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricular septal defect, Hi...	OMIM:618804
Maternal Uniparental Disomy Of Chromosome 6	Cleft palate, Cleft upper lip	ORPHA:96181
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Plagiocephaly, Downturned corners of mouth, Long philtrum, Smooth philtrum	OMIM:618548
Postaxial Acrofacial Dysostosis	Non-midline cleft lip, Cleft palate	ORPHA:246
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia	OMIM:614583
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Conical tooth, Abnormality of the dentition, Microphthalmia, Broad philtrum, Oligo...	ORPHA:228390
Biemond Syndrome Type 2	Microphthalmia, Hydrocephalus	ORPHA:141333
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Cleft upper lip, Conical tooth, Cleft palate, Widely spaced teeth, Hypo...	OMIM:106260
Gapo Syndrome	Frontal bossing, High, narrow palate, Thick lower lip vermilion, Plagiocephaly, Eruption failure,...	OMIM:230740
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Plagiocephaly, Frontal bossing, Widely spaced teeth, Tongue fasciculations	OMIM:617193
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Flat occiput, Exencephaly, Brachycephaly, Long philtrum	ORPHA:2211
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the...	OMIM:616300
3Mc Syndrome 2	Craniosynostosis, Cleft upper lip, Cleft palate, Downturned corners of mouth, Skull asymmetry, Hi...	OMIM:265050
Microphthalmia, Syndromic 13	Microphthalmia, Widely-spaced incisors	OMIM:300915
9Q33.3Q34.11 Microdeletion Syndrome	Tented philtrum, Brachycephaly, Plagiocephaly, Thin vermilion border, Esophagitis, Narrow mouth	ORPHA:495818
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Occipital encephalocele, ...	ORPHA:370959
Braddock-Carey Syndrome 2	Wide mouth, Microphthalmia, Pierre-Robin sequence, Cleft palate	OMIM:619981
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Holoprosencephaly 9	Cleft upper lip, Hydrocephalus, Agenesis of incisor, Dental malocclusion, Cleft palate, Bilateral...	OMIM:610829
Joubert Syndrome 1	Protruding tongue, Occipital myelomeningocele, Plagiocephaly, Macroglossia, Triangular-shaped ope...	OMIM:213300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cleft upper lip, Hydrocephalus, Increased variability in muscle fiber diameter, Cl...	OMIM:613150
Gaucher Disease Type 3	Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c...	ORPHA:77261
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Short lingual frenulum, Craniosynostosis, Plagiocephaly, Wide mouth, High palate	ORPHA:1521
Genitopalatocardiac Syndrome	Downturned corners of mouth, Hydrocephalus, Cleft palate, Non-midline cleft lip	ORPHA:2075
Cranioectodermal Dysplasia 2	Frontal bossing, Cloverleaf skull, Craniosynostosis, Cleft palate, Plagiocephaly, Broad philtrum,...	OMIM:613610
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly, Microdontia	OMIM:261990
Galloway-Mowat Syndrome 4	Plagiocephaly	OMIM:617730
Chromosome 18Q Deletion Syndrome	Thin upper lip vermilion, Cleft upper lip, Cleft palate, Downturned corners of mouth, Short philt...	OMIM:601808
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Irregular dentition, Delayed eruption of teeth, Tented upper lip vermilion, Cleft ...	OMIM:619148
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:600001
Subaortic Stenosis-Short Stature Syndrome	Microdontia, Microphthalmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
Acrofrontofacionasal Dysostosis 1	Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Oligodontia	OMIM:201180
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy...	OMIM:607598
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Camptodactyly of finger, Polyhydramnios	ORPHA:2547
Constricting Bands, Congenital	Encephalocele, Cleft palate, Cleft upper lip	OMIM:217100
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera...	OMIM:608670
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Aloba...	OMIM:301043
Bartsocas-Papas Syndrome	Median cleft lip, Cleft palate, Narrow mouth	ORPHA:1234
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos	OMIM:619318
Developmental Delay With Variable Neurologic And Brain Abnormalities	Knee flexion contracture, Widely spaced teeth, Camptodactyly, Microdontia, Microphthalmia	OMIM:619694
Orofaciodigital Syndrome Vi	Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Incomplete cleft of ...	OMIM:277170
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Atrial septal defect, Ventricular septal defect	ORPHA:290
Nager Syndrome	Wide mouth, Cleft palate, Non-midline cleft lip, Abnormal palate morphology	ORPHA:245
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cleft lip, Deep philtrum, Cleft palate, Abnormal heart morphology, Downturned corners of mouth, L...	OMIM:618571
Osteopathia Striata With Cranial Sclerosis	Frontal bossing, Anal stenosis, Natal tooth, Dental crowding, Intestinal malrotation, Cleft upper...	OMIM:300373
3Mc Syndrome 1	Dental crowding, Cleft upper lip, Cleft lip, Cleft palate, Skull asymmetry, Lambdoidal craniosyno...	OMIM:257920
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Frontal bossing, Craniosynostosis, Carious teeth, Hydrocephalus, Dentinogenesis imperfecta, Plagi...	ORPHA:536467
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Holoprosencephaly 3	Proboscis, Cleft lip, Cleft palate, Holoprosencephaly, Midface retrusion, Solitary median maxilla...	OMIM:142945
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Brachycephaly, Wide mouth, Posterior plagiocephaly, Duodenal atresia	OMIM:617798
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Hydrocephalus, Holoprosencephaly, Median clef...	OMIM:612651
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic her...	OMIM:614294
Meckel Syndrome, Type 2	Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate	OMIM:603194
Chromosome 14Q11-Q22 Deletion Syndrome	Narrow mouth, Plagiocephaly, Macroglossia, High palate, Long philtrum	OMIM:613457
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly, Everted lower lip vermilion	OMIM:615471
Warburg Micro Syndrome 1	Microphthalmia, Thin vermilion border, Narrow mouth	OMIM:600118
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Skeletal muscle atrophy	OMIM:617255
Doors Syndrome	Short lingual frenulum, Brachycephaly, Downturned corners of mouth, Widely spaced teeth, High pal...	ORPHA:79500
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Microphthalmia	ORPHA:77298
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition...	ORPHA:96167
3Q29 Microduplication Syndrome	Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, High palate...	ORPHA:251038
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Cleft palate, Plagiocephaly,...	ORPHA:50
Bohring-Opitz Syndrome	Bilateral cleft palate, Intestinal malrotation, Cleft upper lip, Narrow palate, Broad alveolar ri...	OMIM:605039
Ring Chromosome 7 Syndrome	Brachycephaly, Cleft palate, Plagiocephaly, Thin vermilion border, Short philtrum, Holoprosenceph...	ORPHA:1449
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Small thenar eminence, Umbilical hernia, Joint contracture of the 4th finger, Join...	OMIM:618914
Cleidocranial Dysplasia 2	Plagiocephaly, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Brachycephaly, Gingival overgrowth, Alveolar ridge overgrowth, Plagioc...	OMIM:301072
Renal Agenesis, Bilateral	Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine m...	ORPHA:1848
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Muscular dystrophy	OMIM:615181
Acromelic Frontonasal Dysostosis	Encephalocele, Cleft upper lip, Parietal foramina, Brachycephaly, Cleft palate, U-Shaped upper li...	OMIM:603671
Q Fever	Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P...	ORPHA:781
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Ventricular septal defect, Polyhydramnios, Edema, Hamartoma of ton...	OMIM:269860
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Temtamy Syndrome	Microphthalmia, Thick lower lip vermilion, Abnormal palate morphology	ORPHA:1777
Aarskog-Scott Syndrome	Cleft upper lip, Cleft palate, Curved linear dimple below the lower lip, Hypodontia, Broad philtrum	OMIM:305400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft palate, Furrowed tongue, High palate...	OMIM:616449
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Cleft palate	OMIM:243440
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Atrial septal defect, Microp...	ORPHA:2728
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Cleft palate, H...	OMIM:100300
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy	OMIM:618805
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Plagiocephaly, Hydrocephalus, Brachycephaly	ORPHA:500055
Kapur-Toriello Syndrome	Microphthalmia, Tetralogy of Fallot, Ventricular septal defect, Orofacial cleft	ORPHA:2328
Adnp Syndrome	Thin upper lip vermilion, Thick lower lip vermilion, Brachycephaly, Plagiocephaly, Advanced erupt...	ORPHA:404448
Myhre Syndrome	Craniofacial hyperostosis, Narrow mouth, Submucous cleft hard palate, Gingival cleft, Cleft palat...	ORPHA:2588
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Polyhydramnios, Camptod...	ORPHA:99776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Skeletal muscle atrophy, Hydrocephalus, Dilated cardiomyopathy, Flexion contractur...	OMIM:253800
Marden-Walker Syndrome	Decreased muscle mass, Dextrocardia, High, narrow palate, Narrow mouth, Cleft palate, Congenital ...	OMIM:248700
Duane Retraction Syndrome	Plagiocephaly, Spina bifida occulta, Everted lower lip vermilion, Cleft palate	ORPHA:233
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Un...	OMIM:619103
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Rectourethral fistula, Brachycepha...	OMIM:603116
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Lip pit, Non-midline cleft lip, Fibrous syngnathia, Cleft palate	ORPHA:1300
Trisomy 18	Spina bifida, Esophageal atresia, Narrow mouth, Non-midline cleft lip, Anencephaly, Cleft palate,...	ORPHA:3380
Gracile Bone Dysplasia	Hydrocephalus, Aniridia, Microphthalmia, Ascites, Ankyloglossia	OMIM:602361
Robinow Syndrome, Autosomal Dominant 2	Frontal bossing, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the...	OMIM:616331
Basal Cell Nevus Syndrome 1	Frontal bossing, Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hydrocephalus...	OMIM:109400
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Saethre-Chotzen Syndrome	Parietal foramina, Oxycephaly, Brachycephaly, Narrow palate, Cleft palate, Plagiocephaly, Skull a...	OMIM:101400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, Mitral valve...	OMIM:618874
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Osteopetrosis With Renal Tubular Acidosis	Persistence of primary teeth, Abnormality of the dentition, Thick lower lip vermilion, Brachyceph...	ORPHA:2785
Vacterl/Vater Association	Occipital encephalocele, Non-midline cleft lip, Anencephaly, Tracheoesophageal fistula, Cleft pal...	ORPHA:887
Linear Nevus Sebaceus Syndrome	Prominent occiput, Frontal bossing, Plagiocephaly, Biparietal narrowing	ORPHA:2612
Adams-Oliver Syndrome 2	Microphthalmia, Hydrocephalus, Limb hypertonia, Oligohydramnios	OMIM:614219
Turnpenny-Fry Syndrome	Frontal bossing, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, Dental ...	OMIM:618371
Craniofrontonasal Syndrome	Frontal bossing, Cleft upper lip, Abnormality of the dentition, Brachycephaly, Cleft palate, Umbi...	OMIM:304110
Neu-Laxova Syndrome 1	Hydranencephaly, Ventricular septal defect, Polyhydramnios, Spina bifida, Swollen lip, Cleft uppe...	OMIM:256520
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Plagiocephaly, Widely spaced teeth	ORPHA:496641
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Cleft palate, Umbilical hernia, Long philtrum, Microphthalmia	ORPHA:2505
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li...	ORPHA:1071
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Camptodactyly of finger, Acute rhabdomyolysis	ORPHA:48431
Helsmoortel-Van Der Aa Syndrome	Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermilion, Wide mou...	OMIM:615873
Chédiak-Higashi Syndrome	Edema, Pericardial effusion, Periodontitis, Gingival bleeding, Pleural effusion, Atrophy of alveo...	ORPHA:167
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Bilateral microphthalmos, Elbow flexion contracture, Knee flexion contra...	OMIM:610758
Kaposiform Lymphangiomatosis	Pericardial effusion, Pleural effusion	ORPHA:464329
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Microphthalmia, Gingival bleeding, Right ventricular hypertrophy	ORPHA:335
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Cleft upper lip, Cleft palat...	ORPHA:2008
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Microphthalmia	OMIM:614105
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Polyhydramnios, Hydrocephalus, Orofacial cleft, Cleft palate, Abnormal cardiac sep...	ORPHA:2166
Steinfeld Syndrome	Abnormal heart morphology, Holoprosencephaly, Microphthalmia, Bifid uvula, Median cleft lip and p...	OMIM:184705
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Dilated cardiomyopathy, Cleft pal...	OMIM:242840
Cerebrooculonasal Syndrome	Encephalocele, Frontal bossing, Craniosynostosis, Proboscis, Hydrocephalus, Brachycephaly, Narrow...	OMIM:605627
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramni...	ORPHA:1692
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Frontal bossing, Thin upper lip vermilion, Duodenal ulcer, Intestinal ...	OMIM:135900
Oculodentodigital Dysplasia	Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia,...	OMIM:164200
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Exaggerated cupid's bow, Cleft lip, Deep philtrum, Cleft palate, Short philtrum, Joint contractur...	OMIM:620098
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B...	ORPHA:1942
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cleft upper lip, Hypotrophy of the small hand m...	OMIM:610443
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Cleft palate	OMIM:607361
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Hydrops fetalis, Orofa...	ORPHA:268249
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly, High palate, Dental crowding, Open bite	OMIM:620083
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Cleft upper lip, Malrotation of colon, High,...	OMIM:122470
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha...	ORPHA:2751
Bartsocas-Papas Syndrome 2	Microphthalmia, Accessory oral frenulum, Bilateral cleft lip and palate	OMIM:619339
Zaki Syndrome	Wide mouth, Median pseudocleft lip, High palate, Short philtrum	OMIM:619648
Arboleda-Tham Syndrome	Frontal bossing, Thin upper lip vermilion, Intestinal malrotation, Craniosynostosis, Cleft palate...	OMIM:616268
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema	ORPHA:73224
Holoprosencephaly	Encephalocele, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Cong...	ORPHA:2162
3Q29 Microdeletion Syndrome	Dental crowding, Abnormality of the dentition, Orofacial cleft, High palate, Short philtrum, Ever...	ORPHA:65286
Orofaciodigital Syndrome Type 1	Frontal bossing, Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Ha...	ORPHA:2750
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Frontal bossing, Thin upper lip vermilion, Dental crowding, High, narrow palate, Plagiocephaly, W...	ORPHA:466791
Cat Eye Syndrome	Ventricular septal defect, Cleft palate, Umbilical hernia, Hypoplastic left heart, Total anomalou...	OMIM:115470
Oculodentodigital Dysplasia	Median cleft lip, Abnormal dental enamel morphology, Premature loss of primary teeth, Carious tee...	ORPHA:2710
Lymphangioleiomyomatosis	Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites	ORPHA:538
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary...	OMIM:212093
Teebi-Shaltout Syndrome	Ventricular septal defect, High, narrow palate, Narrow mouth, Cleft palate, Wide mouth, Oligodont...	OMIM:272950
Postaxial Acrofacial Dysostosis	Cleft upper lip, Conical tooth, Midgut malrotation, Pyloric stenosis, Cleft palate	OMIM:263750
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hydrocephalus, Hypoplasia of the iris, Subvalvular aortic stenosis, At...	OMIM:613001
Alg12-Cdg	Thin upper lip vermilion, Intestinal malrotation, Posterior plagiocephaly, Short philtrum, Midfac...	ORPHA:79324
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Frontal bossing, Thin upper lip vermilion, Agenesis of incisor, Plag...	OMIM:619841
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo...	OMIM:225500
Ring Chromosome 10 Syndrome	Microphthalmia, Thin vermilion border, Long philtrum	ORPHA:1438
6Q Terminal Deletion Syndrome	High, narrow palate, Plagiocephaly, Thick vermilion border, Dolichocephaly, Broad philtrum	ORPHA:75857
Microgastria-Limb Reduction Defect Syndrome	Frontal bossing, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Trach...	ORPHA:2538
Lymphatic Malformation 5	Cleft palate	OMIM:153200
Fryns Syndrome	Tented upper lip vermilion, Ventricular septal defect, Polyhydramnios, Cleft upper lip, Cleft pal...	OMIM:229850
Lymphedema-Distichiasis Syndrome	Cleft palate, Cleft upper lip	ORPHA:33001
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Flexion contracture, Optic nerve hypoplasia, Narrow mouth	OMIM:614833
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect, Thin upper lip vermilion	OMIM:619135
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior...	OMIM:616843
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Polyhydramnios, Hydrocephalus, Orofacial cleft, Narrow mouth, Microphthalmia	ORPHA:3301
Aicardi-Goutieres Syndrome 7	Edema, Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopathy, Limb hypertonia	OMIM:615846
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia	ORPHA:63260
Larsen Syndrome	Frontal bossing, Cleft upper lip, Cleft palate, Hypodontia, Spina bifida occulta, Midface retrusion	OMIM:150250
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus	OMIM:601794
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Hydrocephalus, Open mouth	ORPHA:457284
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Cleft palate, Narrow mouth, Neonatal death, Microphthalmia, Oligohydramnios	OMIM:251230
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Meckel Syndrome 14	Occipital encephalocele, Increased nuchal translucency, Single ventricle, Holoprosencephaly, Micr...	OMIM:619879
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Seckel Syndrome 2	Microdontia, Microphthalmia, Microglossia	OMIM:606744
Adams-Oliver Syndrome	Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Ascites, Microphthalmia, Tetra...	ORPHA:974
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at...	OMIM:613091
Moebius Syndrome	Abnormality of the dentition, Congenital fibrosis of extraocular muscles, Facial diplegia, High p...	OMIM:157900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, High, narrow palate, Hydrocephalus, Short uvula, Plagiocephaly, Broad p...	OMIM:619475
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Wide mouth, Microphthalmia, Hydrocephalus, Short philtrum	ORPHA:163966
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Cohen Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dent...	ORPHA:193
Nail-Patella Syndrome	Cleft palate, Spina bifida, Cleft upper lip	OMIM:161200
Fanconi Anemia, Complementation Group S	Macrodontia, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip vermilion	OMIM:617883
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Atrial septal defect, Microphthalmia, Patent f...	OMIM:609053
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Hydrocephalus, Midface retrusion, Abnormal palate morphology	ORPHA:3042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Hydrocephalus, Flexion contracture, Muscular dystrophy, Microphthalmia	OMIM:615249
Microphthalmia With Limb Anomalies	Frontal bossing, Macrodontia, Cleft upper lip, Hydrocephalus, Cleft palate, Thin vermilion border...	ORPHA:1106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Cleft upper lip, Meningoencephalocele, Hydrocephalus, Cleft palate, Anal...	OMIM:236670
Walker-Warburg Syndrome	Skeletal muscle atrophy, Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, ...	ORPHA:899
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Umbilical hernia, Wide mouth, Median pseudocleft lip	OMIM:619758
Pallister-Hall Syndrome	Natal tooth, Ventricular septal defect, Cleft upper lip, Cleft palate, Holoprosencephaly, Neonata...	OMIM:146510
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, High, narrow pala...	ORPHA:464738
Faundes-Banka Syndrome	Plagiocephaly, Frontal bossing, Thin upper lip vermilion, Cleft palate	OMIM:619376
Hydrolethalus Syndrome 1	Median cleft lip, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe...	OMIM:236680
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Plagiocephaly, Glossoptosis, Macroglossia, Downturned corners of mouth,...	ORPHA:444077
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Craniosynostosis, Cleft upper lip, Gingival overgrowth, Brachycephaly, Microdontia of primary tee...	OMIM:213980
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Frontorhiny	Encephalocele, Camptodactyly of finger, Cleft palate, Basal encephalocele, Cranium bifidum occult...	ORPHA:391474
Nance-Horan Syndrome	Microphthalmia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
3Mc Syndrome 3	Cleft palate, Cleft upper lip	OMIM:248340
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Frontal bossing, Tented upper lip vermilion, Large placenta, Deep philtrum, Spinal dysraphism, Pl...	ORPHA:96334
Orofaciodigital Syndrome Type 4	Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv...	ORPHA:2753
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Brachycephaly, Cleft palate, Micro...	OMIM:263520
Temtamy Syndrome	Microphthalmia, Long philtrum, Dental crowding, Hypoplasia of teeth	OMIM:218340
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect, Hypoplasia of teeth	OMIM:234050
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Cleft upper lip, Aqueductal stenosis, Hydrocephalus, Velopharyngeal insuff...	OMIM:154400
Iniencephaly	Encephalocele, Spina bifida, Abnormal occipital bone morphology, Myelomeningocele, Hydrocephalus,...	ORPHA:63259
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Frontal bossing, Thin upper lip vermilion, Scaphocephaly, Brachycephaly, Posterior plagiocephaly,...	OMIM:620330
Meckel Syndrome, Type 1	Occipital encephalocele, Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Cleft up...	OMIM:249000
Microphthalmia, Syndromic 9	Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Bilateral microphthalmo...	OMIM:601186
Wolf-Hirschhorn Syndrome	Frontal bossing, Abnormality of the philtrum, Cleft upper lip, Cleft palate, Downturned corners o...	ORPHA:280
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Deep philtrum, Umbilical hernia, High palate...	OMIM:613884
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Overriding aorta, Median cleft lip, Orofacial cleft, Holoprosencephaly, Microphthalmia, Tetralogy...	ORPHA:3186
Warburg Micro Syndrome 4	Decreased muscle mass, Narrow mouth, Flexion contracture, Long philtrum, Microphthalmia	OMIM:615663
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Focal Dermal Hypoplasia	Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Camptodactyly of fin...	ORPHA:2092
Degcags Syndrome	Jejunal atresia, Craniosynostosis, Protruding tongue, Hiatus hernia, Pyloric stenosis, Plagioceph...	OMIM:619488
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Deep philtrum, Cleft palate, Downturned corne...	ORPHA:251014
Meckel Syndrome	Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Situs inversus totalis, Hydrocepha...	ORPHA:564
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Hypertelorism-Microtia-Facial Clefting Syndrome	Median cleft lip and palate	ORPHA:2213
Microphthalmia, Syndromic 2	Anophthalmia, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of...	OMIM:300166
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Narrow mouth, Hy...	ORPHA:77301
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Dental crowding, Cleft upper lip, Hydrocephal...	OMIM:219000
Microphthalmia, Syndromic 6	Brachycephaly, Cleft palate, Plagiocephaly, Bifid uvula, High palate, Lambdoidal craniosynostosis...	OMIM:607932
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Narrow mouth, Pierre-...	OMIM:616145
Fraser Syndrome	Encephalocele, Anal stenosis, Dental crowding, Cleft upper lip, Myelomeningocele, Dental malocclu...	ORPHA:2052
H Syndrome	Hydrocephalus, Malabsorption, Gingival overgrowth, Cleft upper lip	ORPHA:168569
Distal Deletion 12Q	Frontal bossing, Median cleft lip, Esophageal atresia, High, narrow palate, Supernumerary tooth, ...	ORPHA:96149
Refsum Disease	Microphthalmia, Skeletal muscle atrophy, Cardiomyopathy	ORPHA:773
Mosaic Variegated Aneuploidy Syndrome	Polyhydramnios, Rhabdomyosarcoma, Increased nuchal translucency, Cleft palate, Muscular dystrophy...	ORPHA:1052
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Clef...	OMIM:309801
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Hypoplasia of the primary teeth, Dental malocclusion,...	OMIM:257850
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, High palate, Long philtrum, Microphthalmia, An...	ORPHA:250989
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Tetralogy of Fallot, Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:600460
Martsolf Syndrome 1	Cardiomyopathy, High palate, Short philtrum, Long philtrum, Microphthalmia, Tooth malposition	OMIM:212720
Roberts Syndrome	Craniosynostosis, Cleft upper lip, Brachycephaly, Cleft palate, High palate	ORPHA:3103
Atelis Syndrome 2	Diastema, Thick lower lip vermilion, Supravalvar pulmonary stenosis, Downturned corners of mouth,...	OMIM:620185
8Q21.11 Microdeletion Syndrome	Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition, Downturned corner...	ORPHA:284160
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Microphthalmia, Congenital ...	ORPHA:137675
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Fanconi Anemia, Complementation Group R	Microphthalmia, Hydrocephalus, Agenesis of permanent teeth	OMIM:617244
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Cleft upper lip, Flexion contracture, Stillbirth, Abnormal cardiac septum morphology, Umbilical h...	OMIM:308050
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Thin vermilion border, Long philtrum, Microphthalmia, Bifid uvula	OMIM:241410
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Pleural effusion, Abnormal salivary gland morphology	OMIM:181000
Stromme Syndrome	Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Wide mouth, Myopathy, Stillbirth, Microphtha...	OMIM:243605
Stickler Syndrome	Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog...	ORPHA:828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Increased variability in muscle fiber diameter, Buphthalmos, Muscular dystrophy, M...	OMIM:616538
Alobar Holoprosencephaly	Median cleft lip, Proboscis, Hydrocephalus, Cleft palate, Neural tube defect, High palate, Solita...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Proboscis, Hydrocephalus, Cleft palate, Neural tube defect, High palate, Solita...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Proboscis, Hydrocephalus, Cleft palate, Neural tube defect, High palate, Solita...	ORPHA:93924
Semilobar Holoprosencephaly	Median cleft lip, Proboscis, Hydrocephalus, Cleft palate, Neural tube defect, High palate, Solita...	ORPHA:220386
Diamond-Blackfan Anemia 1	Cleft upper lip, Parietal foramina, Cleft palate, High palate, Colon cancer, Spina bifida occulta	OMIM:105650
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly	ORPHA:45358
Trichothiodystrophy 3, Photosensitive	Carious teeth, Microphthalmia, Natal tooth, Eclabion	OMIM:616395
Jacobsen Syndrome	Ventricular septal defect, Hydrocephalus, Flexion contracture, Macular hypoplasia, Holoprosenceph...	OMIM:147791
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Edema, Cardiomegaly, Pericardial effusion, Polyhydramnios, Hydrops fetal...	ORPHA:51608
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:1352
Joubert Syndrome 37	Microphthalmia, High palate	OMIM:619185
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Warburg Micro Syndrome 3	Decreased muscle mass, Flexion contracture, Narrow palate, Downturned corners of mouth, Microphth...	OMIM:614222
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Delayed eruption of primary ...	OMIM:300952
Nijmegen Breakage Syndrome	Anal stenosis, Cleft upper lip, Deep philtrum, Cleft palate, Anal atresia	OMIM:251260
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Spina bifida, Hydrocephalus, Bilateral microphthalmos, Cleft palate, Thi...	ORPHA:2839
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate	OMIM:610125
Tetraamelia Syndrome 1	Anal atresia, Hydrocephalus, Cleft palate, Cleft upper lip	OMIM:273395
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Hydrocephalus	OMIM:300863
Mend Syndrome	Asymmetry of the mouth, Hydrocephalus, Cleft palate, Abnormal heart morphology, High palate, Micr...	ORPHA:401973
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Facial palsy, Polyhydramnios, Cleft upper lip, Aqueducta...	ORPHA:138
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Premature loss of primary teeth, High, n...	ORPHA:3472
Peters Plus Syndrome	Frontal bossing, Intestinal fistula, Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upp...	ORPHA:709
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Edema, Lymphedema, Thick vermilion border, Chylothorax, Long philtrum, Atrial septa...	ORPHA:2526
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Duane-Radial Ray Syndrome	Ventricular septal defect, Optic disc hypoplasia, Facial palsy, Spina bifida occulta, Small thena...	OMIM:607323
Chromosome 8Q21.11 Deletion Syndrome	Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth, High palate, Short philtrum, ...	OMIM:614230
Galloway-Mowat Syndrome 3	Edema, Narrow mouth, High palate, Camptodactyly, Microphthalmia, Oligohydramnios	OMIM:617729
Holoprosencephaly 1	Alobar holoprosencephaly, Single ventricle, Microphthalmia, Ethmocephaly, Median cleft lip and pa...	OMIM:236100
Rodrigues Blindness	Microphthalmia, Tooth malposition	OMIM:268320
Kyphomelic Dysplasia	Cleft palate, Cleft upper lip	OMIM:211350
Momo Syndrome	Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi...	ORPHA:2563
Holoprosencephaly 2	Median cleft lip and palate, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cle...	OMIM:157170
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Microphthalmia	ORPHA:3412
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Vent...	ORPHA:508498
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Xerostomia, Cl...	OMIM:129900
Crimean-Congo Hemorrhagic Fever	Pericardial effusion, Myocarditis, Gingival bleeding, Ascites, Parotitis	ORPHA:99827
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Camptodactyly of finger	OMIM:610756
Tsh-Secreting Pituitary Adenoma	Pericardial effusion	ORPHA:91347
Simpson-Golabi-Behmel Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramni...	ORPHA:373
Aicardi Syndrome	Hiatus hernia, Cleft palate, Spina bifida, Cleft upper lip	OMIM:304050
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Nance-Horan Syndrome	Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc...	OMIM:302350
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Complete atrioventricular canal defect, Cleft lip, Cleft palate...	OMIM:617925
Gitelman Syndrome	Pericardial effusion, Rhabdomyolysis	ORPHA:358
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, High palate	ORPHA:139471
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro...	OMIM:618727
Skin Creases, Congenital Symmetric Circumferential, 1	Narrow mouth, Cleft palate, High palate, Long philtrum, Microphthalmia	OMIM:156610
Fontaine Progeroid Syndrome	Atrial septal defect, Thin upper lip vermilion, Bicuspid aortic valve, Microdontia, Protruding to...	OMIM:612289
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Facial palsy, Polyhydramnios, Carious teet...	OMIM:620186
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Fanconi Anemia, Complementation Group F	Atrial septal defect, Microphthalmia, Polyhydramnios	OMIM:603467
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Spina bifida, High, narrow palate, Supernumerary tooth, De...	OMIM:234100
Wolf-Hirschhorn Syndrome	Cleft upper lip, Hydrocephalus, Malrotation of small bowel, Cleft palate, Orofacial cleft, Short ...	OMIM:194190
Cousin Syndrome	Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Camptodactyly, Hydranencephaly, Microphth...	OMIM:260660
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Long philtrum	OMIM:615145
Peters-Plus Syndrome	Frontal bossing, Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Craniosyn...	OMIM:261540
22Q11.2 Deletion Syndrome	Polyhydramnios, Short philtrum, Atrial septal defect, Abnormal dental enamel morphology, Spina bi...	ORPHA:567
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Thin upper lip vermilion, Carious teeth, Deep philtrum, Plagiocephaly, Skull a...	OMIM:150230
Ohdo Syndrome, X-Linked	Thin vermilion border, High palate, Widely spaced teeth, Narrow mouth, Microdontia, Microphthalmi...	OMIM:300895
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th...	ORPHA:568
Bartsocas-Papas Syndrome 1	Cleft upper lip, Patent foramen ovale, Flexion contracture, Cleft palate, Microphthalmia, Arthrog...	OMIM:263650
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Phace Association	Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia	OMIM:606519
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth,...	OMIM:604292
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Narrow philtrum, Corneal stromal edema, Thin vermilion border, Microph...	OMIM:601812
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Unilateral microphthalmos	OMIM:615085
Focal Dermal Hypoplasia	Delayed eruption of teeth, Intestinal malrotation, Cleft upper lip, Hiatus hernia, Hydrocephalus,...	OMIM:305600
Charge Syndrome	Anophthalmia, Overriding aorta, Ventricular septal defect, Polyhydramnios, Facial palsy, Secundum...	OMIM:214800
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Chromosome 1P36 Deletion Syndrome, Distal	Frontal bossing, Cleft upper lip, Hydrocephalus, Submucous cleft hard palate, Brachycephaly, Orof...	OMIM:607872
Renpenning Syndrome 1	Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Situs inversus totalis, Narrow ...	OMIM:309500
Nijmegen Breakage Syndrome	Anal stenosis, Deep philtrum, Non-midline cleft lip, Cleft palate, Anal atresia	ORPHA:647
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Cleft palate, Pectoral muscle hypoplasia/aplasia, Cranium bifidum occult...	ORPHA:306542
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ...	ORPHA:2250
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Dehydration, Gingivitis, Periodontitis, Abnormal dental enamel mo...	ORPHA:534
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Pierson Syndrome	Skeletal muscle atrophy, Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the...	OMIM:609049
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Wide mouth, High palate, Camptodactyly, Microphthalmia, Joint contracture...	OMIM:251300
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Polyhydramnios, Edema	OMIM:302960
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele, Lip pit	OMIM:601707
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Microp...	OMIM:616975
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Fanconi Anemia	Spina bifida, Aplasia/Hypoplasia of the uvula, Hydrocephalus, Cleft palate, Aplasia/Hypoplasia of...	ORPHA:84
Treacher Collins Syndrome 1	Cleft soft palate, Bilateral microphthalmos, Cleft palate, Abnormal heart morphology, Wide mouth,...	OMIM:154500
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Accessory oral frenulum, Polyhydramnios, Supernumerary tooth, Hypodontia, Atrio...	OMIM:617088
Aicardi-Goutières Syndrome	Plagiocephaly	ORPHA:51
Micro Syndrome	Microphthalmia, High palate, Short philtrum	ORPHA:2510
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Agenesis of canine, Orofacial cl...	ORPHA:141099
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Congenital diaphragmatic hernia	ORPHA:2470
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Flexion contracture, High palate	ORPHA:35173
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Thin upper lip vermilion, Bicuspid aortic valve, Microdontia, Muscular ventricular septal defect,...	OMIM:612474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Muscular dystrophy, Microphthalmia	OMIM:614643
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormal dental e...	ORPHA:464
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Lip pit, Hypodontia, Microphthalmia, Abnormal palate morphology	ORPHA:1236
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Congenital diaphragmatic hernia, Atrial septal defect, Exaggerated median tongue ...	OMIM:312870
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Cleft upper lip, Hydrocepha...	OMIM:268300
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia	OMIM:206900
Fanconi Anemia, Complementation Group E	Microphthalmia, Abnormal heart morphology	OMIM:600901
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Abnormality of the dentition	ORPHA:1806
Joubert Syndrome 2	Encephalocele, Microphthalmia, Hydrocephalus, High palate	OMIM:608091
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microdontia, Thick vermilion border, Atrial septal defect, Microphthalmia, Patent foramen ovale, ...	OMIM:620005
Fanconi Anemia, Complementation Group A	Microphthalmia, Abnormal heart morphology	OMIM:227650
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess	OMIM:600145
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Mowat-Wilson Syndrome	Delayed eruption of teeth, Dental crowding, Aganglionic megacolon, Abnormal dental morphology, Cl...	ORPHA:2152
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ...	OMIM:301068
Dubowitz Syndrome	Delayed eruption of teeth, Carious teeth, Velopharyngeal insufficiency, Submucous cleft hard pala...	OMIM:223370
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol...	ORPHA:42775
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Fanconi Anemia, Complementation Group C	Microphthalmia, Flexion contracture, Ventricular septal defect	OMIM:227645
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Hydrocephalus, ...	ORPHA:2556
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Triangular mouth, Flexion contracture	OMIM:601675
Papillorenal Syndrome	Microphthalmia, Edema	OMIM:120330
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Liver Disease, Severe Congenital	Plagiocephaly, Umbilical hernia, Protein-losing enteropathy, Chronic gastritis	OMIM:619991
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Long philtrum	OMIM:615877
Pmm2-Cdg	Thin upper lip vermilion, Pericarditis, Multiple joint contractures, Lymphedema, Pericardial effu...	ORPHA:79318
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thin upper lip vermilion, Truncus arteriosus, Optic nerve hypoplasia, Ventricular...	ORPHA:508488
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Ventricular septal defect, Hypoplasia of facial musculatur...	OMIM:164210
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Wide mouth	OMIM:614207
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Warburg Micro Syndrome 2	Microphthalmia, Flexion contracture	OMIM:614225
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Fraser Syndrome 2	Microphthalmia, Narrow mouth, Oligohydramnios	OMIM:617666
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif...	OMIM:612109
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Torticollis, Knee flexion contracture, Thin vermilion border, High palate, Total anomalous pulmon...	OMIM:609945
Branchiooculofacial Syndrome	Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit, Pyloric steno...	OMIM:113620
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, Microphthalmia	OMIM:603457
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Frontal bossing, Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, ...	ORPHA:93271
Fanconi Anemia, Complementation Group D2	Microphthalmia, Hydrocephalus, Abnormal heart morphology	OMIM:227646
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Carious teeth, High, narrow palate, Bilat...	ORPHA:33364
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ...	ORPHA:2108
Neuroocular Syndrome	Hypoplasia of the fovea, Scapular winging, Short uvula, Lens coloboma, Submucous cleft hard palat...	OMIM:619539
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cleft palate, High, narrow palate	ORPHA:2714
Monosomy 9P	Congenital diaphragmatic hernia, Abnormality of the dentition, Cleft palate, High palate, Narrow ...	ORPHA:261112
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Oligodontia, Hypodontia, Micro...	OMIM:308300
Mowat-Wilson Syndrome	Delayed eruption of teeth, Ventricular septal defect, Generalized muscle hypertrophy, Submucous c...	OMIM:235730
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of teeth, Agenesis of permanent teeth,...	OMIM:268400
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Pallister-Hall Syndrome	Natal tooth, Ventricular septal defect, Accessory oral frenulum, Cleft lip, Microglossia, Cleft p...	ORPHA:672
Fanconi Anemia, Complementation Group L	Microphthalmia, Hydrocephalus, Cleft palate	OMIM:614083
Acro-Renal-Ocular Syndrome	Microphthalmia, Tetralogy of Fallot, Optic disc hypoplasia	ORPHA:959
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Ventricular septal defect	OMIM:259770
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Carious teeth, Flexion contracture, Cardiomyopathy, Microphthalmia, Enam...	ORPHA:90324
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Dental crowding, Cleft upper lip, High, narrow palate, Orofa...	OMIM:309800
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Plagiocephaly	OMIM:613355
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Optic nerve hypoplasia, Ankle flexion contracture, Camptodactyly of ...	ORPHA:468631
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Witteveen-Kolk Syndrome	Branchial fistula, Thin upper lip vermilion, Congenital diaphragmatic hernia, Polyhydramnios, Hig...	OMIM:613406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Muscular dystr...	OMIM:253280
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Carious teeth, Cleft palate, Narrow mouth, Microdontia, Microphthalmia	OMIM:616734
Cockayne Syndrome B	Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hypoplasia of teeth, Hypop...	OMIM:133540
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Cockayne Syndrome	Skeletal muscle atrophy, Abnormal dental morphology, Delayed eruption of primary teeth, Carious t...	ORPHA:191
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, High palate, Bifid uvula, Dental malocclusion	OMIM:601552
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, B...	ORPHA:261537
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, B...	ORPHA:261552
Monosomy 13Q14	Microphthalmia, Holoprosencephaly	ORPHA:1587
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, Wide mouth, Abnormal cardiac septum morphology, Atrial septa...	ORPHA:857
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Bilateral microphthalmos, Persistence of primary teeth	ORPHA:93325
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Enamel hypoplasia, Joint contracture of the hand, Camptodactyly of finger	OMIM:309000
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens	ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Hydrocephalus, Facial paralysis	OMIM:175780

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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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

X-ray

X-ray

X-ray

Anti-nuclear antibody assay

Eye Morphology

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 20.1 Data