Gene Summary

Name:
post-GPI attachment to proteins 2
Synonyms:
Frag1,  clpex,  1810006G21Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Pgap2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 125 images

View all 6 images

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.

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
High palate, Abnormal parietal bone morphology, Plagiocephaly, Short philtrum, Bifid uvula, Downt... ORPHA:247262
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Tented upper lip vermilion, Cleft palate OMIM:614207

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Median cleft lip, Cleft lower lip ORPHA:401942
Syngnathia
Cleft palate OMIM:119550
Telecanthus
Bilateral cleft lip and palate, Anodontia OMIM:187350
Mental Retardation, X-Linked, With Craniofacial Dysmorphism
Frontal bossing, Plagiocephaly, Brachycephaly OMIM:300064
Orofacial Cleft 14
Median cleft lip OMIM:615892
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Parietal Foramina 1
Cleft upper lip, Encephalocele, Cleft palate, Parietal foramina OMIM:168500
Anencephaly 2
Anencephaly, Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Isolated Dandy-Walker Malformation
Cleft palate, Prominent occiput, Frontal bossing, Encephalocele, Platybasia ORPHA:217
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip ORPHA:1991
Choanal Atresia And Lymphedema
High palate, Lymphedema, Pericardial effusion OMIM:613611
Thomas Syndrome
Cleft upper lip, Dolichocephaly, Cleft palate ORPHA:3316
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:601420
Kleefstra Syndrome 2
Plagiocephaly, Midface retrusion, Bifid uvula, Everted lower lip vermilion OMIM:617768
Diprosopus
Anencephaly, Cleft palate, Non-midline cleft lip ORPHA:1681
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Cleft palate, Anencephaly, Non-midline cleft lip, Spina bifida ORPHA:2476
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Chromosome 3Q13.31 Deletion Syndrome
High palate, Plagiocephaly, Alobar holoprosencephaly, High, narrow palate, Dolichocephaly, Short ... OMIM:615433
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Plagiocephaly, Cleft palate, Short philtrum, Downturned corners of mouth ORPHA:94066
Van Der Woude Syndrome
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... ORPHA:888
Mmep Syndrome
Ventricular septal defect, Oral cleft, Median cleft lip, Microphthalmia ORPHA:3434
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate OMIM:223200
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Flat occiput, Plagiocephaly, Brachycephaly ORPHA:2898
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Cleft palate OMIM:260150
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly, Cleft palate OMIM:615656
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Frontal bossing, Cleft palate OMIM:311895
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Plagiocephaly, Unilambdoid synostosis, Long philtrum, Broad philtrum, Brachycephal... OMIM:618577
Cerebrooculofacioskeletal Syndrome 3
Cleft palate, Arthrogryposis multiplex congenita, Edema, Microphthalmia OMIM:616570
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Cleft palate, Craniosynostosis OMIM:618265
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Thin upper... OMIM:226440
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Incomplete cleft of the upper lip, Plagiocephaly, Intestinal malrotation, Oral cleft, Deep philtrum ORPHA:77300
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Gonadal dysgenesis, xy type, with associated anomalies
Cleft upper lip, Oral cleft, Abnormal heart morphology OMIM:233430
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate OMIM:120433
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Dental crowding, Frontal bossing, Plagiocephaly OMIM:619264
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Cleft upper lip, Abnormality of the tongue, Intestinal malrotation, Bilateral cleft lip and palat... OMIM:601165
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Oral cleft ORPHA:85287
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft lip ORPHA:2007
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Cleft palate, Non-midline cleft lip ORPHA:1072
Macrosomia With Microphthalmia, Lethal
Median cleft palate, Microphthalmia OMIM:248110
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Oral synechia, Cleft palate, Everted lower lip vermilion ORPHA:2016
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Developmental And Epileptic Encephalopathy 65
Plagiocephaly, Tented upper lip vermilion OMIM:618008
Cebalid Syndrome
High palate, Plagiocephaly, Platystencephaly, Dolichocephaly, Brachycephaly, Midface retrusion, T... OMIM:618774
Rosselli-Gulienetti Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Microdontia, Abnormality of the philtrum OMIM:225000
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
High palate, Plagiocephaly, Tooth malposition, Cleft palate, Brachycephaly OMIM:618603
Intellectual Developmental Disorder, Autosomal Dominant 67
Thick vermilion border, Posterior plagiocephaly OMIM:619927
Cleft Palate, Isolated
Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate OMIM:119540
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pleural effusion, Generalized edema, Ascit... ORPHA:1041
Xk Aprosencephaly Syndrome
Narrow mouth, Atrial septal defect, Ventricular septal defect, Polyhydramnios, Microphthalmia ORPHA:3469
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Wide mouth, Long philtrum, Thin upper lip vermilion, Pericardial effusion, Upturned corners of mouth OMIM:614684
X-Linked Intellectual Disability, Abidi Type
Cleft palate, Non-midline cleft lip ORPHA:85273
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
High palate, Short philtrum, Plagiocephaly, Umbilical hernia OMIM:618354
Cantu Syndrome
Thick upper lip vermilion, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Gingi... OMIM:239850
Schisis Association
Anal atresia, Cleft palate, Tracheoesophageal fistula, Anencephaly, Unilateral cleft lip, Encepha... ORPHA:63862
Hartsfield Syndrome
Cleft palate, Craniosynostosis, Non-midline cleft lip, Encephalocele, Lobar holoprosencephaly ORPHA:2117
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Cleft palate, Non-midline cleft lip ORPHA:1484
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Meckel Syndrome, Type 5
Cleft upper lip, Occipital encephalocele, Anencephaly, Cleft palate OMIM:611561
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Tooth agenesis, Short philtrum, Macrodontia, Downturned corners of mouth, Midface ... OMIM:618731
Adenylosuccinate Lyase Deficiency
Long philtrum, Flat occiput, Thin upper lip vermilion, Brachycephaly, Smooth philtrum ORPHA:46
Acrofacial Dysostosis, Palagonia Type
Cleft upper lip, Oligodontia, Unilateral cleft lip, Spina bifida occulta at S1 OMIM:601829
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, High, narrow palate, Cleft palate, Brachyturricephaly, Ethmoidal encephalocele, ... OMIM:607597
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Muenke Syndrome
Hydrocephalus, Plagiocephaly, High, narrow palate, Coronal craniosynostosis, Brachycephaly ORPHA:53271
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick upper lip vermilion, Wide mouth, Brachycephaly, Thick lower lip vermilion OMIM:309545
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
6Q25 Microdeletion Syndrome
High palate, Plagiocephaly, Long philtrum, Cleft palate ORPHA:251056
Faciocardiorenal Syndrome
Narrow mouth, Plagiocephaly, Hypodontia, Cleft palate, Smooth philtrum ORPHA:1973
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Oral cleft, Bilateral microphthalmos, Microphthalmia OMIM:611638
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Plagiocephaly, Dolichocephaly, Short philtrum, Prominent occiput, Downturned corners of mouth, Br... OMIM:618672
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Cleft palate, Bifid uvula, Unilateral cleft lip, Cleft soft palate ORPHA:2736
Microphthalmia, Syndromic 8
Cleft upper lip, Widely-spaced maxillary central incisors, Cleft palate, Oral cleft OMIM:601349
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Craniosynostosis, Spina bifida occulta, Turricephaly OMIM:616602
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Plagiocephaly, Macroglossia, Everted lower lip vermilion, Frontal bossing, Open mouth... OMIM:616789
Coffin-Siris Syndrome 6
Plagiocephaly, High, narrow palate, Cleft palate, Short philtrum, Deep philtrum, Frontal bossing OMIM:617808
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Wide mouth, Long philtrum, Edema, Ascites, Pericardial effusion OMIM:608776
Muenke Syndrome
High palate, Dental malocclusion, Plagiocephaly, Coronal craniosynostosis, Brachycephaly, Midface... OMIM:602849
Acalvaria
Hydrocephalus, Calvarial skull defect, Cleft palate, Holoprosencephaly, Spina bifida ORPHA:945
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Narrow mouth, Plagiocephaly, Everted lower lip vermilion, Long philtrum, Downturned corners of mouth OMIM:618089
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Umbilical hernia, Microphthalmia OMIM:615297
Split hand/foot malformation 1 (SHFM1)
Median cleft lip, Cleft palate DECIPHER:46
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly, Cleft palate, Diastema, Microdontia, Deep philtrum, Talon cusp OMIM:605282
Meckel Syndrome, Type 8
Cleft upper lip, Encephalocele, Cleft palate OMIM:613885
Intellectual Developmental Disorder, Autosomal Recessive 38
Plagiocephaly, Narrow palate OMIM:615516
Zechi-Ceide Syndrome
Cleft upper lip, Oligodontia, Midface retrusion, Cleft palate OMIM:612916
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Short philtrum, Non-midline cleft lip ORPHA:1406
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly, Long philtrum, Tented upper lip vermilion OMIM:619972
Craniofrontonasal Dysplasia
High palate, Plagiocephaly, Craniosynostosis, Abnormality of the dentition, Oral cleft, Frontal b... ORPHA:1520
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
High palate, Plagiocephaly, Everted lower lip vermilion, Short philtrum, Tented upper lip vermili... OMIM:616579
Blepharocheilodontic Syndrome 1
Cleft upper lip, Anal atresia, Hypodontia, Neural tube defect, Conical tooth OMIM:119580
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Downturned corners of mouth, Frontal bossing, Tented upper lip verm... OMIM:618430
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, Ascites ORPHA:2414
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Lessel-Kreienkamp Syndrome
Dental malocclusion, Plagiocephaly, Frontal bossing, Open mouth, Scaphocephaly, Thin upper lip ve... OMIM:619149
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Plagiocephaly, Short philtrum, Frontal bossing, Thin upper lip vermilion, Open mouth, Brachycepha... OMIM:616801
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Cleft upper lip, Hydrocephalus, Plagiocephaly, Cleft palate, Short philtrum, Abnormal rectum morp... OMIM:239300
Congenital Muscular Dystrophy, Fukuyama Type
Dolichocephaly, Hydrocephalus, Brachycephaly, Plagiocephaly ORPHA:272
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
High palate, Brachycephaly, Plagiocephaly, Thin upper lip vermilion OMIM:618862
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Wide mouth, Narrow mouth, Plagiocephaly, Everted lower lip vermilion, Long philtrum, Downturned c... OMIM:619720
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Cleft palate, Microphthalmia OMIM:221950
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Bilateral cleft lip and palate, Anterior encephalocele, Holoprosencephaly OMIM:601357
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Cleft palate, Ventricular septal defect, Transpos... OMIM:231060
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Pai Syndrome
Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Encephalocele ORPHA:1993
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Craniofacial hyperostosis, Prominent occiput, Cleft palate, Non-midline cleft lip ORPHA:2725
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Plagiocephaly, Narrow palate OMIM:617481
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect... OMIM:615524
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Long philtrum, Smooth philtrum OMIM:618821
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Median cleft lip OMIM:155145
Focal Facial Dermal Dysplasia Type Iv
Cleft upper lip, Hydrocephalus, Cleft palate ORPHA:398189
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Cleft palate OMIM:601016
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Oral cleft, Cleft palate, Short mandibular rami OMIM:141400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Hypodontia, Cleft palate, Microdontia, Abnormality of the philtrum OMIM:225060
Autosomal Recessive Amelia
Polyhydramnios, Abnormal cardiac septum morphology, Non-midline cleft lip, Oral cleft ORPHA:1027
Bresek Syndrome
Hydrocephalus, Plagiocephaly, Aganglionic megacolon, Cleft palate ORPHA:85284
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Median cleft lip, Microglossia, Occipital encephalocele OMIM:241800
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Brachycephaly, Bifid uvula, Cleft palate OMIM:300958
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Anal atresia, Plagiocephaly, Tooth agenesis, Narrow palate, Multiple unerupted teeth, Abnormal pa... ORPHA:2063
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal atresia, Plagiocephaly, Cleft palate, Anterior plagiocephaly, Left unicoronal synostosis, Te... OMIM:614749
Orofaciodigital Syndrome Viii
High palate, Median cleft lip, Cleft palate OMIM:300484
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Plagiocephaly, Dolichocephaly, Long philtrum, Frontal bossing, Brachycephaly, Midface retrusion OMIM:619721
Craniosynostosis 2
Supernumerary tooth, Craniosynostosis, Brachyturricephaly, Frontal bossing, Bicoronal synostosis,... OMIM:604757
Nanophthalmos 4
Microphthalmia OMIM:615972
Holoprosencephaly 4
Median cleft lip and palate, Median cleft lip, Semilobar holoprosencephaly OMIM:142946
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Cleft upper lip, Cleft palate, Holoprosencephaly, Dolichocephaly, Short philtrum, De... OMIM:612530
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide mouth, Dental crowding, Plagiocephaly, Protruding tongue, Thick vermilion borde... OMIM:618106
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Pulmonary edema, Myofiber disarray, Muscular ventricular septal defect,... OMIM:115197
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Tented upper lip vermilion, Plagiocephaly, Open mouth OMIM:616362
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Plagiocephaly, Macroglossia, Downturned corners of mouth, Widely spaced ... ORPHA:369891
Intellectual Disability, Wolff Type
Non-midline cleft lip, Abnormal intestine morphology, Oral cleft, Thick lower lip vermilion ORPHA:3080
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Short philtrum, Downturned corners of mouth, Smooth philtrum OMIM:613192
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Unilateral cleft lip, Tetralogy of Fallot ORPHA:1919
Osteogenesis Imperfecta, Type Xx
High palate, Plagiocephaly, Narrow palate, Agenesis of permanent teeth, Tented upper lip vermilio... OMIM:618644
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Distal Monosomy 7Q36
Wide mouth, Cleft palate, Holoprosencephaly, Non-midline cleft lip, Abnormal calvaria morphology ORPHA:1636
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Triopia
Cleft palate, Dolichocephaly, Frontal bossing, Median cleft lip, Encephalocele ORPHA:3374
Faciothoracogenital Syndrome
Thin upper lip vermilion, Long philtrum, Smooth philtrum, Microphthalmia OMIM:227320
Chromosome 14Q11-Q22 Deletion Syndrome
High palate, Narrow mouth, Long philtrum, Plagiocephaly OMIM:613457
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, High, narrow palate, Cleft palate, Craniosynostosis OMIM:201550
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Gingival overgrowth, Atrial septal defect, Aortic valve stenosis, Lower ey... ORPHA:363705
Anophthalmia Plus Syndrome
Bilateral cleft lip and palate, Spina bifida, Cleft palate, Non-midline cleft lip ORPHA:1104
Keratoconus Posticus Circumscriptus
Cleft upper lip, Cleft palate OMIM:244600
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick upper lip vermilion, Narrow mouth, Plagiocephaly, Thin vermilion border, Short philtrum, Mi... OMIM:617360
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Ectopic anus, Wide mouth, Anal atresia, Abnormal palate morphology, Plagiocephaly, Cleft palate, ... ORPHA:85199
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Cleft palate, Anterior plagiocephaly, Long philtrum, Downturned corners of mouth, Fr... ORPHA:163649
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Cleft palate, Encephalocele, Brachycephaly OMIM:603671
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, Solitary median maxillary central incisor, High palate, Cleft palate OMIM:602418
Malan Overgrowth Syndrome
High palate, Narrow mouth, Plagiocephaly, Frontal bossing, Scaphocephaly ORPHA:420179
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Oral cleft, Congenital muscular dystrophy, Microphthalmia, Occipital encephalocele ORPHA:324416
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Wide mouth, Plagiocephaly, Short philtrum, Microdontia, Enamel hypoplasia, W... OMIM:619293
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Tetralogy of Fallot, Camptodactyly, Pectoral ... OMIM:136760
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microphthalmia ORPHA:2432
Intellectual Developmental Disorder, Autosomal Dominant 64
High palate, Plagiocephaly, Short philtrum, Thin upper lip vermilion, Smooth philtrum OMIM:619188
Enlarged Parietal Foramina
Myelomeningocele, Cleft palate, Craniosynostosis, Parietal foramina, Cleft lip, Occipital encepha... ORPHA:60015
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Bilateral cleft lip OMIM:616994
Bifid Uvula
Cleft lip, Submucous cleft soft palate, Bifid uvula ORPHA:99771
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Gingival overgrowth, Narrow mouth, Atrial septal defect, Joint contracture of the hand, Narrow pa... OMIM:235510
Chromosome 15Q14 Deletion Syndrome
Cleft palate, Everted lower lip vermilion, Short philtrum, Cleft lip, Tented upper lip vermilion OMIM:616898
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Summitt Syndrome
Plagiocephaly, Craniosynostosis ORPHA:3210
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Bilateral cleft lip and palate, Non-midline cleft lip, Tooth agenesis, Meningocele ORPHA:2003
17Q12 Microduplication Syndrome
Polyhydramnios, Atrial septal defect, Cleft palate, Microphthalmia ORPHA:261272
Trisomy 20P
Ectopic anus, Brachycephaly, Plagiocephaly, Everted lower lip vermilion, Thin vermilion border, A... ORPHA:261318
Humeroradial Synostosis With Craniofacial Anomalies
Frontal bossing, Plagiocephaly, Brachycephaly OMIM:236410
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis OMIM:600252
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cleft palate OMIM:214300
Ritscher-Schinzel Syndrome 4
High palate, Wide mouth, Plagiocephaly, Narrow palate, Short philtrum, Thick vermilion border, Br... OMIM:619435
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
High palate, Hydrocephalus, Plagiocephaly, Deep philtrum, Tented upper lip vermilion, Exaggerated... OMIM:619833
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Kleefstra Syndrome Due To A Point Mutation
Anal atresia, Plagiocephaly, Abnormality of the dentition, Natal tooth, Umbilical hernia, Brachyc... ORPHA:261652
Acrofrontofacionasal Dysostosis
High palate, Cleft palate, Everted lower lip vermilion, Non-midline cleft lip, Brachycephaly, Mid... ORPHA:1784
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Pierre-Robin sequence, Midface retrusion, Cleft palate OMIM:184840
Diamond-Blackfan Anemia 6
Cleft upper lip, Atrial septal defect, Cleft palate, Bifid uvula, Tetralogy of Fallot, Ventricula... OMIM:612561
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Short philtrum, Frontal bossing, Tented upper lip vermilion, Thin upper lip vermil... ORPHA:371364
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
High palate, Plagiocephaly, Long philtrum, Flat occiput, Tented upper lip vermilion, Thick vermil... OMIM:619383
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip, Midface... OMIM:616788
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Brachycephaly, Cleft palate, Spina bifida occulta OMIM:268850
Short Stature And Facioauriculothoracic Malformations
Cleft upper lip, High palate, Cleft palate OMIM:609654
Cleft Soft Palate
Cleft soft palate OMIM:119570
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Cleft palate, Anencephaly, Ventricular septal defect, Mening... OMIM:611134
Hyperphosphatasia-Intellectual Disability Syndrome
High palate, Abnormal parietal bone morphology, Plagiocephaly, Short philtrum, Bifid uvula, Downt... ORPHA:247262
Hydrolethalus
Hydrocephalus, Cleft palate, Gingival cleft, Anencephaly, Arrhinencephaly, Bifid uvula, Unilatera... ORPHA:2189
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Short philtrum, Frontal bossing, Dental crowding, Brachycephaly OMIM:617296
Holoprosencephaly-Craniosynostosis Syndrome
Plagiocephaly, Brachycephaly, Craniosynostosis, Holoprosencephaly ORPHA:2163
Fg Syndrome Type 1
High palate, Wide mouth, Hydrocephalus, Malrotation of colon, Anal atresia, Dental crowding, Plag... ORPHA:93932
Pentasomy X
Plagiocephaly ORPHA:11
Neurogenic Arthrogryposis Multiplex Congenita
Scaphocephaly, Plagiocephaly ORPHA:1143
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Plagiocephaly, Dolichocephaly, Long philtrum, Pyloric stenosis, Frontal bossing, Thi... ORPHA:457279
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly, Hypodontia, Cleft palate, Macrodontia, Abnormal dental enamel morphology ORPHA:2916
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Cleft palate, Craniosynostosis, Intestinal malrotation, Downturned corners of mout... ORPHA:457193
Burn-Mckeown Syndrome
Cleft upper lip, Narrow mouth, Cleft palate, Thin vermilion border, Short philtrum, Bifid uvula OMIM:608572
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Cleft palate, Tongue nodules OMIM:277170
Intellectual Developmental Disorder, Autosomal Dominant 13
Plagiocephaly OMIM:614563
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Downturned corners of mouth, Patent foramen oval... OMIM:618652
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Raine Syndrome
High palate, Wide mouth, Hydrocephalus, Gingival overgrowth, Narrow mouth, Plagiocephaly, Cleft p... OMIM:259775
Triploidy
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Wide mouth, Narrow mout... ORPHA:3376
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Brachycephaly, Craniosynostosis, Pyloric stenosis, Frontal bossing, Thin upper lip v... ORPHA:314575
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft lip, Cleft palate, Holoprosencephaly ORPHA:2165
2Q24 Microdeletion Syndrome
Cleft palate, Camptodactyly of finger, Short philtrum, Abnormal oral frenulum morphology, Microph... ORPHA:1617
Trisomy 8Q
Myelomeningocele, High palate, Cleft palate, Everted lower lip vermilion, Bifid tongue, Oral clef... ORPHA:1752
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hydrocephalus, Smooth philtrum, Microphthalmia OMIM:602501
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Alkuraya-Kucinskas Syndrome
High palate, Hydrocephalus, Camptodactyly, Arthrogryposis multiplex congenita, Edema, Pericardial... OMIM:617822
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Holoprosencephaly, Anencephaly, Non-midline cleft lip, Spinal dysrap... ORPHA:1908
Opitz-Kaveggia Syndrome
Cleft upper lip, Wide mouth, Hydrocephalus, Anal atresia, Narrow palate, Plagiocephaly, Cleft pal... OMIM:305450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy, Hydrocephalus, Microphthalmia OMIM:614830
Congenital Toxoplasmosis
Hydrocephalus, Ascites, Cardiomegaly, Microphthalmia ORPHA:858
Frontofacionasal Dysplasia
Cleft palate, Non-midline cleft lip, Encephalocele, Brachycephaly, Midface retrusion ORPHA:1791
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Duodenal atresia, Plagiocephaly, Tracheoesophageal fistula, Spina bifida occulta, Esophageal atre... OMIM:619227
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Umbilical hernia, Open mouth OMIM:617751
Congenital Enterovirus Infection
Hydrops fetalis, Myocarditis, Polyhydramnios, Cardiomyopathy, Pleural effusion, Fetal ascites, Pe... ORPHA:292
Developmental And Epileptic Encephalopathy 84
Plagiocephaly, Smooth philtrum, Thick lower lip vermilion OMIM:618792
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Plagiocephaly, Thin upper lip vermilion, Submucous cleft hard palate OMIM:619680
Multiple Pterygium-Malignant Hyperthermia Syndrome
Narrow mouth, Plagiocephaly, Cleft palate, Dolichocephaly, Long philtrum, Advanced eruption of te... ORPHA:2215
Aarskog-Scott Syndrome
Cleft upper lip, Cleft palate, Everted lower lip vermilion, Abnormality of the dentition, Long ph... ORPHA:915
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Craniosynostosis OMIM:614416
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Midface retrusion, Craniosynostosis OMIM:612247
Noonan Syndrome 13
High palate, Wide mouth, U-Shaped upper lip vermilion, Plagiocephaly, Long philtrum, Microdontia,... OMIM:619087
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Amyoplasia, Hypoplastic heart, Flexion contracture, Cleft palate, Polyhydramnios... OMIM:312150
Vertebral Hypersegmentation And Orofacial Anomalies
Prominent occiput, Unilateral cleft palate, Unilateral cleft lip, Midface retrusion, Submucous cl... OMIM:619122
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Cleft palate, Umbilical hernia, Non-midline cleft lip, Abnormality of the philtrum, Biparietal na... ORPHA:1770
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Microphthalmia ORPHA:2528
Frontonasal Dysplasia 2
Calvarial skull defect, Encephalocele, Craniosynostosis, Parietal foramina, Anterior plagiocephal... OMIM:613451
Dihydropyrimidinase Deficiency
Anal atresia, Plagiocephaly OMIM:222748
Isotretinoin Syndrome
Cleft palate, Biparietal narrowing, Spina bifida occulta ORPHA:2305
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
High palate, Brachycephaly, Plagiocephaly, Cleft palate, Thin vermilion border, Long philtrum, Mi... OMIM:610759
Baraitser-Winter Syndrome 1
Cleft upper lip, Wide mouth, Trigonocephaly, Long philtrum, Oral cleft, Thin upper lip vermilion,... OMIM:243310
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Cleft upper lip, Hydrocephalus, Anal atresia, Narrow mouth, Frontal bossing, Tented ... OMIM:612582
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Umbilical hernia, Open mouth ORPHA:500159
Pierpont Syndrome
Long upper lip, Everted lower lip vermilion, Thin vermilion border, Widely spaced teeth, Micropht... ORPHA:487825
Hypocomplementemic Urticarial Vasculitis
Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascites, Pericardial effusion ORPHA:36412
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus, Solitary med... OMIM:147250
Culler-Jones Syndrome
Cleft upper lip, Midface retrusion, Cleft palate OMIM:615849
Fetal Alcohol Syndrome
Cleft palate, Microdontia, Non-midline cleft lip, Thin upper lip vermilion, Biparietal narrowing,... ORPHA:1915
Holoprosencephaly 11
Cleft lip, Cleft palate, Holoprosencephaly OMIM:614226
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion ORPHA:231111
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morpho... ORPHA:1335
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Predominantly lower limb lymphedema, Cleft palate, Tetralogy of Fallot, Ventricu... OMIM:153400
Juberg-Hayward Syndrome
Cleft upper lip, Anteriorly placed anus OMIM:216100
Developmental And Epileptic Encephalopathy 1
Plagiocephaly OMIM:308350
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Pericardial effusion OMIM:115200
Catel-Manzke Syndrome
High palate, Cleft upper lip, Cleft palate, Glossoptosis, Camptodactyly, Ventricular septal defec... OMIM:616145
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft upper lip, Cleft palate OMIM:244200
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Tooth agenesis, Midface retrusion, Cleft palate ORPHA:1135
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Oligodontia, Spina bifida occulta, Unilateral cleft lip... ORPHA:1787
Waardenburg Syndrome Type 1
Cleft upper lip, Cleft palate, Tented upper lip vermilion, Meningocele, Spina bifida, Aganglionic... ORPHA:894
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Umbilical hernia, Open m... OMIM:200990
Trisomy 13
Atrial septal defect, High, narrow palate, Cleft palate, Abnormality of the dentition, Hydrops fe... ORPHA:3378
Blepharonasofacial Malformation Syndrome
Tooth agenesis, Long philtrum, Cleft palate, Non-midline cleft lip ORPHA:1252
Aica-Ribosiduria
Wide mouth, Thin upper lip vermilion, Brachycephaly ORPHA:250977
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Cleft palate OMIM:614120
Lymphoproliferative Syndrome 1
Stomatitis, Pericardial effusion, Pleural effusion OMIM:613011
Pediatric Systemic Lupus Erythematosus
Myositis, Pleural effusion, Edema, Oral ulcer, Ascites, Pericardial effusion ORPHA:93552
Dystonia, Juvenile-Onset
Cleft upper lip, Cleft palate OMIM:607371
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Wide mouth, Plagiocephaly, Cleft palate, Short philtrum, Widely spaced teeth, Frontal bossing, Th... OMIM:280000
Opitz Gbbb Syndrome
High palate, Cleft upper lip, Anal atresia, Cleft palate, Frontal bossing, Unilateral cleft lip, ... OMIM:300000
Orofaciodigital Syndrome V
High palate, Hypodontia, Cleft palate, Bifid tongue, Bifid uvula, Lobulated tongue, Hamartoma of ... OMIM:174300
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Narrow mouth, Cleft palate, Small thenar eminence, Abnormal heart morphology OMIM:239800
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Muscular dystrophy, Dilated cardiomyopathy, Abnormal myocardium morphology ORPHA:300751
Trichohepatoneurodevelopmental Syndrome
High palate, Plagiocephaly, Macroglossia, Steatorrhea, Microdontia, Downturned corners of mouth, ... OMIM:618268
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Short philtrum, Downturned corners of mouth, Microphthalmia ORPHA:93267
Isolated Cleft Lip
Velopharyngeal insufficiency, Hypodontia, Macrodontia, Situs inversus totalis, Polyhydramnios, Su... ORPHA:199302
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Cleft palate, Deep philtrum, Frontal bossing OMIM:206920
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Orofaciodigital Syndrome Ix
High palate, Accessory oral frenulum, Cleft palate, Abnormality of the dentition, Median cleft lip OMIM:258865
Anauxetic Dysplasia 3
Oligodontia, Midface retrusion, Plagiocephaly OMIM:618853
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Velopharyngeal insufficiency, Hypodontia, Cleft palate, Microdonti... OMIM:129400
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Bifid uvula, Deep philtrum, Bilateral cleft lip, Tented up... OMIM:618622
Primary Intestinal Lymphangiectasia
Pleural effusion, Edema, Generalized edema, Ascites, Pericardial effusion ORPHA:90362
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Tooth malposition, Cleft palate, Flexion contracture of the 2... ORPHA:2712
Tetraamelia Syndrome 2
Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Intellectual Disability-Strabismus Syndrome
High palate, Wide mouth, Plagiocephaly, Abnormality of the dentition, Thick vermilion border ORPHA:363528
Nanophthalmos
Microphthalmia ORPHA:35612
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Hypertrophic cardiomyopathy, Pericardial effusion OMIM:618775
Meckel Syndrome, Type 6
Cleft upper lip, Hydrocephalus, Cleft palate, Anencephaly, Occipital encephalocele OMIM:612284
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia affecting the eye, Wide mouth, Cleft palate, Atrioventricular canal defect, Sh... ORPHA:2549
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Cleft upper lip, Hydrocephalus, Atrial septal defect, Holoprosencephaly, Ventr... OMIM:264480
Trisomy 9P
Impacted tooth, Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Brachycephaly ORPHA:236
Distal Monosomy 10P
Ectopic anus, Anal atresia, Cleft palate, Non-midline cleft lip ORPHA:1580
Gaucher Disease Type 1
Gingival bleeding, Pedal edema, Abnormal myocardium morphology, Ascites, Pericardial effusion ORPHA:77259
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft upper lip, Tooth agenesis, Cleft palate OMIM:147950
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Cleft soft palate, Microphthalmia, Facial hypotonia, Smooth philtrum OMIM:614526
Faciocardiorenal Syndrome
Plagiocephaly, Hypoplastic philtrum, Hypodontia, Cleft palate OMIM:227280
Acute Interstitial Pneumonia
Peripheral edema, Pericardial effusion, Pleural effusion ORPHA:79126
Branchio-Oculo-Facial Syndrome
High palate, Tooth agenesis, Everted lower lip vermilion, Dolichocephaly, Microdontia, Oral cleft... ORPHA:1297
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Flat occiput, Unilateral cleft lip ORPHA:2511
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Tooth agenesis, Dilated cardiomyopathy, Edema OMIM:605676
Pierpont Syndrome
Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin vermilion borde... OMIM:602342
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Cleft palate OMIM:601076
Thoracoabdominal Syndrome
Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate OMIM:313850
Heart And Brain Malformation Syndrome
High, narrow palate, Everted lower lip vermilion, Limb hypertonia, Camptodactyly of finger, Ventr... OMIM:616920
Monosomy 18P
Tooth malposition, Cleft palate, Hypodontia, Holoprosencephaly, Short philtrum, Carious teeth, Do... ORPHA:1598
Intellectual Developmental Disorder, Autosomal Dominant 66
Plagiocephaly, Brachycephaly OMIM:619910
Smith-Magenis Syndrome
Cleft upper lip, Taurodontia, Cleft palate, Short philtrum, Midface retrusion, Frontal bossing, T... ORPHA:819
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion ORPHA:92
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, Atrial septal defect, Secundum atrial septal defect, Cleft palate, Ventricular s... OMIM:600987
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Cofs Syndrome
Camptodactyly of finger, Everted lower lip vermilion, Arthrogryposis multiplex congenita, Microph... ORPHA:1466
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Oligohydramnios, Hypertrophic cardiomyopathy, Microphthalmia OMIM:619053
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Acromelic Frontonasal Dysplasia
Wide mouth, Median cleft palate, Median cleft lip, Meningocele, Encephalocele, Brachycephaly ORPHA:1827
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Plagiocephaly, Cleft palate, Macroglossia, Craniosynostosis, Oligodontia, Bifid uvul... ORPHA:453499
Frontofacionasal Dysplasia
Cleft upper lip, Bifid uvula, Oral cleft, Cranium bifidum occultum, Hypoplasia of the frontal bon... OMIM:229400
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Fibrochondrogenesis
Narrow mouth, Plagiocephaly, Cleft palate ORPHA:2021
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion OMIM:618183
Pulmonary Capillary Hemangiomatosis
Pedal edema, Pulmonary edema, Pericardial effusion, Pleural effusion ORPHA:199241
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Decreased muscle mass OMIM:608763
Aicardi-Goutieres Syndrome 9
Left ventricular hypertrophy, Edema, Lower limb hypertonia, Pericarditis, Ascites, Pericardial ef... OMIM:619487
Hennekam Syndrome
Gingival overgrowth, Tooth agenesis, Narrow mouth, Chylothorax, Supernumerary tooth, Camptodactyl... ORPHA:2136
Otodental Syndrome
Abnormal dental enamel morphology, Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of p... ORPHA:2791
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microphthalmia, Frontal encephalocele ORPHA:1528
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Exercise-induced rhabdomyolysis, Ventricular septal defect, Dilated cardiom... ORPHA:26793
Spondylo-Ocular Syndrome
Thin vermilion border, Long philtrum, Aplasia/Hypoplasia of the lens, Ventricular septal defect, ... ORPHA:85194
Robinow-Sorauf Syndrome
Plagiocephaly OMIM:180750
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Cleft palate, Microphthalmia OMIM:164180
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Agenesis of molar, Supernumerary tooth, Anterior plagiocephaly, Diastema, Microdontia, Bicoronal ... OMIM:619718
Saethre-Chotzen Syndrome
Plagiocephaly, Narrow palate, Cleft palate, Craniosynostosis, Open bite, Brachycephaly ORPHA:794
Naxos Disease
Cleft upper lip, Cardiomyopathy ORPHA:34217
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Wide mouth, Cleft palate, Broad philtrum, Brachycephaly, Midface retrusion ORPHA:1394
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Microphthalmia OMIM:218670
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Hypodontia, Abnormality of the dentition, Carious teeth, Bilateral cl... ORPHA:3253
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Nonimmune hydrops fetalis, Cardiomyopathy, Edema, Pericarditis, Thin upper l... OMIM:212065
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly ORPHA:96190
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cleft palate, Long philtrum, Bifid uvula, Ventricular septal defect, Deep philtrum, Downturned co... ORPHA:404440
Orofaciodigital Syndrome I
Myelomeningocele, High palate, Hydrocephalus, Cleft upper lip, Alveolar ridge overgrowth, Supernu... OMIM:311200
16P13.11 Microdeletion Syndrome
Cleft upper lip, Wide mouth, Cleft palate, Holoprosencephaly, Exaggerated cupid's bow, Thin upper... ORPHA:261236
Oculomaxillofacial Dysostosis
Abnormality of the dentition, Median cleft lip, Cleft palate ORPHA:1794
Alg9-Cdg
Torticollis, Wide mouth, Hypoplasia of the musculature, Atrial septal defect, Hydrops fetalis, Lo... ORPHA:79328
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, High, narrow palate, Dolichocephaly, Long philtrum, Umbilical hernia ORPHA:1101
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Narrow mouth, Plagiocephaly, Dolichocephaly, Bifid uvula, Frontal bossing, Exaggerated cupid's bo... OMIM:619480
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
High palate, Hydrocephalus, Narrow mouth, Plagiocephaly, Aqueductal stenosis, Short philtrum, Lon... OMIM:619512
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Cleft palate OMIM:601355
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Joint contracture of the hand, Flexion contracture, Thin vermilion border, Dehydr... OMIM:214150
Acropectorovertebral Dysplasia
Spina bifida, High, narrow palate, Cleft palate ORPHA:957
Atelosteogenesis Type Ii
Plagiocephaly, Cleft palate, Bilateral cleft palate, Long philtrum, Thin upper lip vermilion, Mid... ORPHA:56304
Myhre Syndrome
Narrow mouth, Generalized muscle hypertrophy, Atrial septal defect, Aortic valve stenosis, Cleft ... OMIM:139210
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Brachycephaly, Cleft pala... ORPHA:861
Aymé-Gripp Syndrome
Brachycephaly, Hydrocephalus, Narrow mouth, Plagiocephaly, Cleft palate, Craniosynostosis, Oligod... ORPHA:1272
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
High palate, Plagiocephaly, Long philtrum, Smooth philtrum OMIM:300749
Holoprosencephaly 14
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Cleft palate, Holoprosencephaly, Fr... OMIM:619895
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Cleft palate, Oligodontia, Oral cleft, Brachycephaly, Abnormal dental enamel mor... OMIM:601701
Poems Syndrome
Pleural effusion, Ascites, Pericardial effusion, Edema ORPHA:2905
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
High palate, Dental crowding, Plagiocephaly, Dolichocephaly, Frontal bossing, Thick vermilion border OMIM:619005
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Cleft upper lip, Abnormality of the dentition OMIM:273400
Verloove Vanhorick-Brubakk Syndrome
Cleft palate, Non-midline cleft lip ORPHA:3429
Emanuel Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Aortic valve stenosis, Atrial septal def... ORPHA:96170
Orofaciodigital Syndrome Xvii
High, narrow palate, Median cleft lip OMIM:617926
3P25.3 Microdeletion Syndrome
Atrial septal defect, High, narrow palate, Cleft palate, Pulmonic stenosis, Short philtrum, Ventr... ORPHA:435638
Classical-Like Ehlers-Danlos Syndrome Type 2
High palate, Premature loss of teeth, Periodontitis, Narrow palate, Tooth malposition, Long uvula... ORPHA:536532
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
High palate, Flat occiput, Normal pressure hydrocephalus, Plagiocephaly ORPHA:300570
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Cleft palate, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Un... OMIM:616897
Kapur-Toriello Syndrome
Cleft upper lip, Atrial septal defect, Joint contracture of the hand, Cleft palate, Camptodactyly... OMIM:244300
Cranioectodermal Dysplasia 2
High palate, Plagiocephaly, Cleft palate, Everted lower lip vermilion, Craniosynostosis, Dolichoc... OMIM:613610
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Stevenson-Carey Syndrome
Narrow mouth, Atrial septal defect, Joint contracture of the hand, Camptodactyly, Downturned corn... OMIM:611961
Carey-Fineman-Ziter Syndrome 1
High palate, Plagiocephaly, Cleft palate, Glossoptosis, Pierre-Robin sequence, Microglossia OMIM:254940
Mohr Syndrome
High palate, Hydrocephalus, Agenesis of central incisor, Accessory oral frenulum, Cleft palate, B... OMIM:252100
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Widely spaced teeth, Tongue fasciculations, Plagiocephaly, Frontal bossing OMIM:617193
9Q33.3Q34.11 Microdeletion Syndrome
Narrow mouth, Plagiocephaly, Thin vermilion border, Esophagitis, Tented philtrum, Brachycephaly ORPHA:495818
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Abnormality of the dentition, Conical tooth, Microphthalmia, Broad philtrum, Oligo... ORPHA:228390
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
High palate, Wide mouth, Plagiocephaly, Craniosynostosis, Short lingual frenulum ORPHA:1521
Genitopalatocardiac Syndrome
Downturned corners of mouth, Hydrocephalus, Cleft palate, Non-midline cleft lip ORPHA:2075
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Baraitser-Winter Syndrome 2
Wide mouth, Long philtrum, Oral cleft, Microphthalmia, Thin upper lip vermilion OMIM:614583
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Plagiocephaly, Long philtrum, Downturned corners of mouth, Thin upper lip vermilion, Smooth philtrum OMIM:618548
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Plagiocephaly, Everted lower lip vermilion OMIM:615471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy, Hydrocephalus, Microphthalmia OMIM:613153
Gaucher Disease Type 3
Aortic valve calcification, Mitral valve calcification, Hydrops fetalis, Abnormal myocardium morp... ORPHA:77261
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Long philtrum, Deep philtrum, Lymphedema, Microphthalmia, Thin upper lip vermilion, Thick lower l... OMIM:152950
Popliteal Pterygium Syndrome
Cleft upper lip, Cleft palate, Bifid uvula, Spina bifida occulta, Lower lip pit, Fibrous syngnathia OMIM:119500
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia ORPHA:141333
Endocrine-Cerebroosteodysplasia
Cleft upper lip, Hydrocephalus, Cleft palate, Holoprosencephaly, Natal tooth, Midface retrusion OMIM:612651
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Long philtrum, Flat occiput, Exencephaly, Brachycephaly ORPHA:2211
Microphthalmia, Syndromic 13
Diastema, Microphthalmia OMIM:300915
Joubert Syndrome 14
Hydrocephalus, Microphthalmia, Short philtrum, Tented upper lip vermilion, Open mouth, Encephalocele OMIM:614424
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... OMIM:618280
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Doors Syndrome
High palate, Macrodontia of permanent maxillary central incisor, Cleft palate, Abnormality of the... ORPHA:79500
Sandestig-Stefanova Syndrome
High palate, Muscular ventricular septal defect, Camptodactyly, Oral cleft, Microphthalmia, Perim... OMIM:618804
Holoprosencephaly 9
Cleft upper lip, Dental malocclusion, Hydrocephalus, Cleft palate, Holoprosencephaly, Short philt... OMIM:610829
Postaxial Acrofacial Dysostosis
Cleft palate, Non-midline cleft lip ORPHA:246
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Congenital diaphragmatic hernia, Cle... ORPHA:2059
Neurofaciodigitorenal Syndrome
Abnormal oral mucosa morphology, Abnormality of the philtrum, Brachycephaly, Plagiocephaly ORPHA:2673
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Abnormal Hair, Joint Laxity, And Developmental Delay
Plagiocephaly, Microdontia OMIM:261990
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Gingival overgrowth, Pulmonic stenosis, Left ventricular hypertrophy, Small thenar e... OMIM:619148
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Microphthalmia, Microdontia, Membranous subvalvular aortic stenosis ORPHA:3191
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Long upper lip, Cleft palate, Everted lower lip vermilion, Oligodontia, Long philtru... OMIM:608670
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Wide mouth, Cleft palate, Microphthalmia OMIM:619981
Maternal Uniparental Disomy Of Chromosome 6
Cleft upper lip, Cleft palate ORPHA:96181
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Polyhydramnios, Camptodactyly of finger, Microphthalmia ORPHA:2547
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Hypodontia, Cleft palate, Widely spaced teeth, Conical tooth, Selective tooth ag... OMIM:106260
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Arthrogryposis multiplex conge... OMIM:607598
Congenital Rubella Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Microphthalmia ORPHA:290
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Tented upper lip vermilion, Microphthalmia OMIM:614105
Chromosome 18Q Deletion Syndrome
Cleft upper lip, U-Shaped upper lip vermilion, Cleft palate, Short philtrum, Bifid uvula, Downtur... OMIM:601808
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft lip and palate, Microphthalmia ORPHA:1473
Joubert Syndrome 1
Plagiocephaly, Macroglossia, Triangular-shaped open mouth, Protruding tongue, Occipital myelomeni... OMIM:213300
Congenital Muscular Dystrophy With Cerebellar Involvement
Reduced muscle fiber alpha dystroglycan, Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, ... ORPHA:370959
Intellectual Developmental Disorder, Autosomal Dominant 53
Wide mouth, Duodenal atresia, Posterior plagiocephaly, Intestinal malrotation, Brachycephaly OMIM:617798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Hydrocephalus, Macroglossia, Skeletal muscle hypertrophy, Buphthalmos, Cleft pal... OMIM:613150
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Aicardi Syndrome
Cleft upper lip, Malabsorption, Plagiocephaly, Hiatus hernia, Cleft palate, Short philtrum, Intes... ORPHA:50
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Alveolar ridge overgrowth, Gingival overgrowth, Plagiocephaly, Delayed eruption of teeth, Microdo... OMIM:301072
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microdontia, Camptodactyly, Widely spaced teeth, Knee flexion contracture, Microphthalmia OMIM:619694
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Median cleft palate, Hypoplastic left heart, Cleft palate, Alobar ... OMIM:301043
Q Fever
Endocarditis, Myocarditis, Pleural effusion, Abnormal heart valve morphology, Pericarditis, Peric... ORPHA:781
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cleft palate, Long philtrum, Downturned corners of mouth, Deep philtrum, Cleft lip, Microphthalmi... OMIM:618571
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... OMIM:600001
Osteopathia Striata With Cranial Sclerosis
High palate, Cleft upper lip, Hydrocephalus, Anal atresia, Dental malocclusion, Cleft palate, Int... OMIM:300373
Frontonasal Dysplasia 3
Brachycephaly, Cleft palate OMIM:613456
Acrofrontofacionasal Dysostosis 1
Cleft upper lip, Wide mouth, Cleft palate, Oligodontia, Brachycephaly OMIM:201180
Warburg Micro Syndrome 1
Thin vermilion border, Narrow mouth, Microphthalmia OMIM:600118
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Hydrocephalus, Plagiocephaly, Dentinogenesis imperfecta, Craniosynostosis, Long phil... ORPHA:536467
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Anophthalmia, Ventricular septal defect, Microphthalmia ORPHA:77298
Turnpenny-Fry Syndrome
High palate, Dental malocclusion, Narrow mouth, Brachycephaly, Plagiocephaly, Abnormality of the ... OMIM:618371
3Mc Syndrome 1
Cleft upper lip, Cleft palate, Coronal craniosynostosis, Spina bifida occulta, Skull asymmetry, D... OMIM:257920
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pericardial effusion, Pleural effusion OMIM:108050
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Joint contracture of the 4th finger, Pulmonic stenosis, Small thenar eminence, Joint contracture ... OMIM:618914
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
16P13.2 Microdeletion Syndrome
Hydrocephalus, Brachycephaly, Plagiocephaly ORPHA:500055
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Cleft palat... OMIM:614294
3Q29 Microduplication Syndrome
High palate, Cleft palate, Camptodactyly of toe, Abnormality of the dentition, Ventricular septal... ORPHA:251038
Holoprosencephaly 3
Cleft palate, Holoprosencephaly, Bifid uvula, Cleft lip, Solitary median maxillary central inciso...