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.

Eye Morphology

Images Ophthalmoscopy

2 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Anti-nuclear antibody assay

Images

6 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
Brachycephaly, High palate, Plagiocephaly, Aganglionic megacolon, Bifid uvula, Short philtrum, An... 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
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 11
Cleft palate, Cleft lip 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
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Cleft lower lip, Cleft upper lip, Fusion of gums, Diastema, Median cleft lip ORPHA:401942
Syngnathia
Cleft palate OMIM:119550
Telecanthus
Anodontia, Bilateral cleft lip and palate OMIM:187350
Orofacial Cleft 14
Median cleft lip OMIM:615892
Cleft Lip With Or Without Cleft Palate
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... ORPHA:1991
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Parietal Foramina 1
Cleft palate, Cleft upper lip, Encephalocele, Parietal foramina OMIM:168500
Anencephaly 2
Median cleft palate, Anencephaly, Cleft maxillary alveolar ridge, Median cleft lip OMIM:619452
Isolated Dandy-Walker Malformation
Encephalocele, Prominent occiput, Platybasia, Frontal bossing, Cleft palate ORPHA:217
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft palate, Cleft upper lip, Atrophic gastritis OMIM:137215
Thomas Syndrome
Cleft palate, Cleft upper lip, Dolichocephaly ORPHA:3316
Choanal Atresia And Lymphedema
Pericardial effusion, High palate, Lymphedema OMIM:613611
Diprosopus
Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:1681
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft lip, Ectopic anus, Spina bifida, Anencephaly, Cleft palate ORPHA:2476
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Cleft Lip-Retinopathy Syndrome
Non-midline cleft lip ORPHA:1995
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Meckel Syndrome, Type 8
Cleft upper lip, Encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia, Cleft palate,... OMIM:613885
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Ectopic anus, Short philtrum, Downturned corners of mouth, Cleft palate ORPHA:94066
Gombo Syndrome
Abnormal heart morphology, Microphthalmia OMIM:233270
Kleefstra Syndrome 2
Everted lower lip vermilion, Midface retrusion, Bifid uvula, Plagiocephaly OMIM:617768
Disorganization, Mouse, Homolog Of
Cleft palate, Cleft upper lip OMIM:223200
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, High palate, Plagiocephaly, Short philtrum, Dolichocephaly, Alobar holoprosencepha... OMIM:615433
Mmep Syndrome
Ventricular septal defect, Orofacial cleft, Microphthalmia, Median cleft lip ORPHA:3434
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip OMIM:600251
Pierre Robin Sequence With Facial And Digital Anomalies
Cleft palate, Pierre-Robin sequence, Glossoptosis, Frontal bossing OMIM:311895
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Long philtrum, Hydrocephalus, Midface retrusion, Unilambdoid synost... OMIM:618577
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Brachycephaly, Plagiocephaly, Flat occiput ORPHA:2898
Sporadic Fetal Brain Disruption Sequence
Plagiocephaly, Prominent occiput ORPHA:1665
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly, Deep philtrum, Incomplete cleft of the upper lip, Intestinal malrotation, Orofacia... ORPHA:77300
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Orofacial cleft ORPHA:85287
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft lip, Lip pit, Cleft palate ORPHA:1072
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Cleft Palate-Lateral Synechia Syndrome
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth ORPHA:2016
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Dental crowding, Plagiocephaly, Frontal bossing OMIM:619264
Pierre Robin Syndrome
Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Non-midline cleft lip ORPHA:2007
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip OMIM:120433
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... ORPHA:1041
Cleft Palate, Isolated
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Craniosynostosis 6
Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Right unilambdoid synostosis, Spin... OMIM:616602
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, High palate, Plagiocephaly, Cleft palate, Tooth malposition OMIM:618603
Developmental And Epileptic Encephalopathy 65
Tented upper lip vermilion, Plagiocephaly OMIM:618008
Cebalid Syndrome
Brachycephaly, High palate, Plagiocephaly, Turricephaly, Midface retrusion, Dolichocephaly, Platy... OMIM:618774
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Cleft palate ORPHA:85273
Global Developmental Delay With Or Without Impaired Intellectual Development
Thin upper lip vermilion, Oligodontia, Plagiocephaly, Frontal bossing OMIM:618330
Cerebrooculofacioskeletal Syndrome 3
Cleft palate, Edema, Microphthalmia, Arthrogryposis multiplex congenita OMIM:616570
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Hartsfield Syndrome
Non-midline cleft lip, Encephalocele, Lobar holoprosencephaly, Cleft palate, Craniosynostosis ORPHA:2117
Schisis Association
Encephalocele, Spina bifida, Anencephaly, Anal atresia, Tracheoesophageal fistula, Cleft palate, ... ORPHA:63862
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Long philtrum, Wide mouth, Pericardial effusion, Upturned corners of mouth, Thin upper lip vermilion OMIM:614684
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Long philtrum, Bifid uvula, Everted lower lip vermilion, Downturned corners of mou... OMIM:618089
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Cleft upper lip, Cleft palate OMIM:611561
Cantu Syndrome
Thick upper lip vermilion, Congenital hypertrophy of left ventricle, Long philtrum, Lymphedema, T... OMIM:239850
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Hydrocephalus OMIM:258320
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Xk Aprosencephaly Syndrome
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Narrow mouth, Microphthalmia ORPHA:3469
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Short philtrum, Midface retrusion, Downturned corners of mouth, Tooth agenesis, Ma... OMIM:618731
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Decreased calvarial ossification, Trigonocephaly, Cleft palate, Craniosynostosis OMIM:618265
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Anterior encephalocele, Bilateral cleft lip, Holoprosencephaly, Bilateral cleft ... OMIM:601357
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Cleft upper lip, Brachyturricephaly, Frontal bossing, Cleft palate, High... OMIM:607597
Intellectual Developmental Disorder, Autosomal Dominant 67
Posterior plagiocephaly, Thick vermilion border OMIM:619927
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
6Q25 Microdeletion Syndrome
Cleft palate, High palate, Long philtrum, Plagiocephaly ORPHA:251056
Microphthalmia, Syndromic 8
Cleft palate, Cleft upper lip, Widely-spaced maxillary central incisors, Orofacial cleft OMIM:601349
Muenke Syndrome
Brachycephaly, Plagiocephaly, Coronal craniosynostosis, Hydrocephalus, High, narrow palate ORPHA:53271
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Short philtrum, Prominent occiput, Dolichocephaly, Downturned corne... OMIM:618672
Faciocardiorenal Syndrome
Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum, Cleft palate ORPHA:1973
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia, Orofacial cleft OMIM:611638
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Abnormal cardiac septum morphology, Wide mouth, Pericardial effusion, Edema, Ascites OMIM:608776
Adenylosuccinate Lyase Deficiency
Brachycephaly, Long philtrum, Thin upper lip vermilion, Flat occiput, Smooth philtrum ORPHA:46
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... OMIM:614702
Acalvaria
Spina bifida, Hydrocephalus, Holoprosencephaly, Calvarial skull defect, Cleft palate ORPHA:945
Band Heterotopia
Hydrocephalus, Plagiocephaly OMIM:600348
Split hand/foot malformation 1 (SHFM1)
Cleft palate, Median cleft lip DECIPHER:46
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Plagiocephaly, Wide mouth, Macroglossia, Frontal bossing, Everted lower lip vermil... OMIM:616789
Muenke Syndrome
Brachycephaly, Dental malocclusion, High palate, Plagiocephaly, Coronal craniosynostosis, Midface... OMIM:602849
Coffin-Siris Syndrome 6
Plagiocephaly, Deep philtrum, Short philtrum, Frontal bossing, Cleft palate, High, narrow palate OMIM:617808
Adams-Oliver Syndrome 4
Atrial septal defect, Microphthalmia, Umbilical hernia, Ventricular septal defect OMIM:615297
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uvula, Hydrocephalus, Cleft palate, Unilateral cleft lip ORPHA:2736
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick upper lip vermilion, Brachycephaly, Wide mouth, Thick lower lip vermilion OMIM:309545
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Zechi-Ceide Syndrome
Cleft palate, Cleft upper lip, Midface retrusion, Oligodontia OMIM:612916
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Plagiocephaly, Deep philtrum, Microdontia, Diastema, Cleft palate OMIM:605282
Charlie M Syndrome
Non-midline cleft lip, Short philtrum, Narrow mouth, Tooth agenesis, Thin vermilion border ORPHA:1406
Craniofrontonasal Dysplasia
Brachycephaly, High palate, Plagiocephaly, Frontal bossing, Orofacial cleft, Craniosynostosis, Ab... ORPHA:1520
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis ORPHA:2414
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
High palate, Plagiocephaly, Short philtrum, Everted lower lip vermilion, Thin upper lip vermilion... OMIM:616579
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Plagiocephaly, Short philtrum, Frontal bossing, Thin upper lip vermilion, Smooth p... OMIM:616801
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Midface retrusion, Frontal bossing, Thin upper lip vermilion, Downt... OMIM:618430
Intellectual Developmental Disorder, Autosomal Recessive 38
Narrow palate, Plagiocephaly OMIM:615516
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Cleft palate, Transpos... OMIM:231060
Congenital Muscular Dystrophy, Fukuyama Type
Brachycephaly, Hydrocephalus, Plagiocephaly, Dolichocephaly ORPHA:272
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Non-midline cleft lip, Craniofacial hyperostosis, Prominent occiput, Cleft palate ORPHA:2725
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Brachycephaly, Thin upper lip vermilion, High palate, Plagiocephaly OMIM:618862
Pai Syndrome
Encephalocele, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate ORPHA:1993
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Plagiocephaly, Long philtrum, Wide mouth, Deep philtrum, Midface retrusion, Frontal bossing, Ever... OMIM:619720
Lessel-Kreienkamp Syndrome
Dental malocclusion, Scaphocephaly, Plagiocephaly, Frontal bossing, Thin upper lip vermilion, Ope... OMIM:619149
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Short mandibular rami, Cleft palate, Orofacial cleft OMIM:141400
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Congenital diaphragmatic hernia... OMIM:615524
Rhizomelic Limb Shortening With Dysmorphic Features
Plagiocephaly, Long philtrum, Smooth philtrum OMIM:618821
Focal Facial Dermal Dysplasia Type Iv
Cleft palate, Cleft upper lip, Hydrocephalus ORPHA:398189
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the philtrum, Cleft upper lip, Hypodontia, Microdontia, Anodontia, Cleft palate OMIM:225060
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Cleft upper lip, Plagiocephaly, Aganglionic megacolon, Hydrocephalus, Short philtrum, Midface ret... OMIM:239300
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft palate, Cleft upper lip OMIM:601016
Autosomal Recessive Amelia
Polyhydramnios, Non-midline cleft lip, Abnormal cardiac septum morphology, Orofacial cleft ORPHA:1027
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft lip OMIM:155145
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Narrow palate, Plagiocephaly OMIM:617481
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Cleft palate, Cleft upper lip, Bifid uvula OMIM:300958
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Orofaciodigital Syndrome Viii
Cleft palate, High palate, Median cleft lip OMIM:300484
Developmental And Epileptic Encephalopathy 110
Tented upper lip vermilion, Posterior plagiocephaly, High palate OMIM:620149
Triopia
Encephalocele, Dolichocephaly, Frontal bossing, Median cleft lip, Cleft palate ORPHA:3374
Bresek Syndrome
Cleft palate, Hydrocephalus, Plagiocephaly, Aganglionic megacolon ORPHA:85284
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, High palate, Deep philtrum, Widely spaced teeth, Short philtrum, Dolichocephaly,... OMIM:612530
Intellectual Disability, Wolff Type
Thick lower lip vermilion, Non-midline cleft lip, Abnormal intestine morphology, Orofacial cleft ORPHA:3080
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Polyhydramnios, High palate, Limb hypertonia, Pericardial effusion, Atrial septal defect, Downtur... OMIM:620070
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Crowded maxillary incisors, Narrow palate, Plagiocephaly, Anal atresia, Abnormal palate morpholog... ORPHA:2063
Blepharocheilodontic Syndrome 1
Conical tooth, Cleft upper lip, Neural tube defect, Hypodontia, Anal atresia OMIM:119580
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Pericardial effusion, Ventricular se... OMIM:115197
Adducted Thumbs Syndrome
High palate, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Craniosynostosis OMIM:201550
Distal Monosomy 7Q36
Non-midline cleft lip, Wide mouth, Abnormal calvaria morphology, Holoprosencephaly, Cleft palate ORPHA:1636
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Plagiocephaly, Long philtrum, Midface retrusion, Dolichocephaly, Frontal bossing OMIM:619721
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Left unicoronal synostosis, Plagiocephaly, Aganglionic megacolon, Anal atresia, Tented upper lip ... OMIM:614749
Holoprosencephaly 4
Semilobar holoprosencephaly, Median cleft lip and palate, Median cleft lip OMIM:142946
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Anophthalmia Plus Syndrome
Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate ORPHA:1104
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, High palate, Plagiocephaly, Wide mouth, Widely spaced teeth, Midface retrusion, Ma... ORPHA:369891
Phenobarbital Embryopathy
Tetralogy of Fallot, Abnormal mitral valve morphology, Unilateral cleft lip ORPHA:1919
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Intellectual Developmental Disorder, Autosomal Dominant 36
Tented upper lip vermilion, Open mouth, Hydrocephalus, Plagiocephaly OMIM:616362
Keratoconus Posticus Circumscriptus
Cleft palate, Cleft upper lip OMIM:244600
Enlarged Parietal Foramina
Parietal foramina, Myelomeningocele, Cleft lip, Cleft palate, Occipital encephalocele, Craniosyno... ORPHA:60015
Osteogenesis Imperfecta, Type Xx
Brachycephaly, High palate, Narrow palate, Plagiocephaly, Midface retrusion, Agenesis of permanen... OMIM:618644
Craniofaciofrontodigital Syndrome
Polyhydramnios, Long philtrum, Ventricular septal defect, Prominent median palatal raphe, Pericar... ORPHA:363705
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Plagiocephaly, Wide mouth, Submucous cleft hard palate, Protruding tongue, Dental cr... OMIM:618106
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
High palate, Plagiocephaly, Short philtrum, Frontal bossing, Umbilical hernia OMIM:618354
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Short philtrum, Downturned corners of mouth, Smooth philtrum OMIM:613192
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Muscular dystrophy, Congenital muscul... OMIM:613155
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Brachycephaly, Parietal foramina, Plagiocephaly, Wide mouth, Ectopic anus, Coronal craniosynostos... ORPHA:85199
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, High palate, Long philtrum, Frontal bossing, Downturned corners of mouth, Cleft pa... ORPHA:163649
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Non-midline cleft lip, Tooth agenesis, Bilateral cleft lip and palate ORPHA:2003
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Cleft lip, Tented upper lip vermilion, Cleft palate OMIM:616898
Weyers Ulnar Ray/Oligodactyly Syndrome
Solitary median maxillary central incisor, Cleft upper lip, High palate, Cleft palate OMIM:602418
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thick upper lip vermilion, Plagiocephaly, Short lingual frenulum, Microdontia, Short philtrum, Pr... OMIM:617360
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Dental malocclusion, Plagiocephaly, Wide mouth, Widely spaced teeth, Microdont... OMIM:619293
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly OMIM:607313
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy, Hydrocephalus, Microphthalmia, Occipital encephalocele, Orofacial ... ORPHA:324416
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate ORPHA:2432
Frontonasal Dysplasia 1
Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Pectoral m... OMIM:136760
Malan Overgrowth Syndrome
Scaphocephaly, High palate, Plagiocephaly, Frontal bossing, Narrow mouth ORPHA:420179
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Ventricular septal defect, Joint contracture of the hand, Delayed eruption of teet... OMIM:235510
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly, Tented upper lip vermilion, Long philtrum OMIM:619972
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Pericardial effusion, Hydrocephalus, Macroglossia, Pleural effusion, Hypertrophi... OMIM:261740
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft palate, Cleft upper lip OMIM:214300
Summitt Syndrome
Craniosynostosis, Plagiocephaly ORPHA:3210
Intellectual Developmental Disorder, Autosomal Dominant 64
High palate, Plagiocephaly, Short philtrum, Thin upper lip vermilion, Smooth philtrum OMIM:619188
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Lowry-Maclean Syndrome
Cleft palate, Craniosynostosis, Delayed eruption of teeth OMIM:600252
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
High palate, Plagiocephaly, Deep philtrum, Hydrocephalus, Tented upper lip vermilion, Exaggerated... OMIM:619833
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Bilateral cleft lip OMIM:616994
Ritscher-Schinzel Syndrome 4
Brachycephaly, High palate, Narrow palate, Wide mouth, Plagiocephaly, Short philtrum, Thick vermi... OMIM:619435
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Cleft palate, Pierre-Robin sequence, Midface retrusion OMIM:184840
Humeroradial Synostosis With Craniofacial Anomalies
Brachycephaly, Plagiocephaly, Frontal bossing OMIM:236410
Trisomy 20P
Brachycephaly, Plagiocephaly, Ectopic anus, Spina bifida, Microdontia, Short philtrum, Dolichocep... ORPHA:261318
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Acrofrontofacionasal Dysostosis
Brachycephaly, Non-midline cleft lip, High palate, Midface retrusion, Everted lower lip vermilion... ORPHA:1784
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... OMIM:611134
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... OMIM:619313
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft lip, Midface retrusion, Bilateral cleft palate, Pala... OMIM:616788
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Cleft upper lip, Ventricular septal defect, Mitral valve prolapse, Bifid... OMIM:612561
Short Stature And Facioauriculothoracic Malformations
Cleft palate, Cleft upper lip, High palate OMIM:609654
Prune1-Related Neurological Syndrome
Tongue fasciculations, Plagiocephaly ORPHA:544469
Triploidy
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia affecting the eye, Polyhydramnios, Wide mo... ORPHA:3376
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Cleft palate, Cleft upper lip, Brachycephaly OMIM:268850
Trisomy 8Q
Non-midline cleft lip, Myelomeningocele, Bifid tongue, High palate, Abnormal oral frenulum morpho... ORPHA:1752
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, High palate, Long philtrum, Flat occiput, Tented upper lip vermilion, Thick vermil... OMIM:619383
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Short philtrum, Frontal bossing, Thin upper lip vermilion, Smooth philtrum, Tented... ORPHA:371364
Hydrolethalus
Gingival cleft, Anencephaly, Bifid uvula, Arrhinencephaly, Hydrocephalus, Submucous cleft hard pa... ORPHA:2189
Pallister-Hall-Like Syndrome
Hydrocephalus, Median cleft lip, Microglossia, Cleft palate, Occipital encephalocele OMIM:241800
Holoprosencephaly 7
Cranial asymmetry, Bilateral cleft lip, Hydrocephalus, Semilobar holoprosencephaly, Midface retru... OMIM:610828
Fg Syndrome Type 1
High palate, Long philtrum, Wide mouth, Plagiocephaly, Abnormal large intestine morphology, Pylor... ORPHA:93932
Pentasomy X
Plagiocephaly ORPHA:11
Neurogenic Arthrogryposis Multiplex Congenita
Scaphocephaly, Plagiocephaly ORPHA:1143
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Non-midline cleft lip, Spinal dysraphism, Encephalocele, Anencephaly, Hydrocephalus,... ORPHA:1908
Congenital Toxoplasmosis
Cardiomegaly, Ascites, Hydrocephalus, Microphthalmia ORPHA:858
17Q12 Microduplication Syndrome
Polyhydramnios, Cleft palate, Microphthalmia, Atrial septal defect ORPHA:261272
Burn-Mckeown Syndrome
Cleft upper lip, Bifid uvula, Short philtrum, Narrow mouth, Thin vermilion border, Cleft palate OMIM:608572
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Plagiocephaly OMIM:614563
Raine Syndrome
Brachycephaly, Enamel hypoplasia, High palate, Plagiocephaly, Wide mouth, Natal tooth, Brachyturr... OMIM:259775
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cleft palate, Holoprosencephaly, Median cleft lip ORPHA:2165
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Intestinal malrotation, Thin upper lip vermilion, Downturned corners of mouth, Cle... ORPHA:457193
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Kleefstra Syndrome Due To A Point Mutation
Brachycephaly, Plagiocephaly, Natal tooth, Thick lower lip vermilion, Midface retrusion, Anal atr... ORPHA:261652
Hyperphosphatasia-Intellectual Disability Syndrome
Brachycephaly, High palate, Plagiocephaly, Aganglionic megacolon, Bifid uvula, Short philtrum, An... ORPHA:247262
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Short philtrum, Abnormal oral frenulum morphology, Microphthalmia, Cleft... ORPHA:1617
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, High palate, Pyloric stenosis, Frontal bossing, Thin upper lip vermilion, Craniosy... ORPHA:314575
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Holoprosencephaly, Plagiocephaly, Craniosynostosis ORPHA:2163
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Downturned corners of mout... OMIM:618652
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, High palate, Cardiomyopathy OMIM:620089
Frontofacionasal Dysplasia
Brachycephaly, Non-midline cleft lip, Encephalocele, Midface retrusion, Cleft palate ORPHA:1791
Aarskog-Scott Syndrome
Cleft upper lip, Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, Cleft pal... ORPHA:915
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly, Hypodontia, Cleft palate, Macrodontia, Abnormal dental enamel morphology ORPHA:2916
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Alkuraya-Kucinskas Syndrome
High palate, Pericardial effusion, Hydrocephalus, Camptodactyly, Pleural effusion, Edema, Arthrog... OMIM:617822
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Long philtrum, Plagiocephaly, Pyloric stenosis, Submucous cleft hard palate, Midface... ORPHA:457279
Multiple Pterygium Syndrome, X-Linked
Polyhydramnios, Cleft upper lip, Flexion contracture, Amyoplasia, Edema, Cleft palate, Hypoplasti... OMIM:312150
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Brachycephaly, Plagiocephaly, Short philtrum, Frontal bossing, Dental crowding OMIM:617296
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Microphthalmia, Smooth philtrum, Ventricular septal defect OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy, Hydrocephalus, Microphthalmia OMIM:614830
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Pericardial effusion, Pleural effusion, Fetal ascites, Myocardit... ORPHA:292
Multiple Pterygium-Malignant Hyperthermia Syndrome
Plagiocephaly, Long philtrum, Broad alveolar ridges, Advanced eruption of teeth, Midface retrusio... ORPHA:2215
Vertebral Hypersegmentation And Orofacial Anomalies
Midface retrusion, Submucous cleft hard palate, Prominent occiput, Unilateral cleft palate, Unila... OMIM:619122
Developmental And Epileptic Encephalopathy 84
Thick lower lip vermilion, Plagiocephaly, Smooth philtrum OMIM:618792
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Plagiocephaly, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta, Tracheoesop... OMIM:619227
Crouzon Syndrome With Acanthosis Nigricans
Brachycephaly, Hydrocephalus, Midface retrusion, Craniosynostosis OMIM:612247
Opitz-Kaveggia Syndrome
Cleft upper lip, Narrow palate, Long philtrum, Wide mouth, Plagiocephaly, Thick lower lip vermili... OMIM:305450
Isotretinoin Syndrome
Spina bifida occulta, Cleft palate, Biparietal narrowing ORPHA:2305
Intellectual Developmental Disorder, Autosomal Dominant 48
Open mouth, Plagiocephaly, Umbilical hernia OMIM:617751
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Craniosynostosis OMIM:614416
Chromosome 6Pter-P24 Deletion Syndrome
Brachycephaly, Cleft upper lip, High palate, Abnormality of dental morphology, Hydrocephalus, Mid... OMIM:612582
Holoprosencephaly 11
Cleft palate, Holoprosencephaly, Cleft lip OMIM:614226
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Non-midline cleft lip, Abnormality of the philtrum, Biparietal narrowing, Cleft palate, Umbilical... ORPHA:1770
Baraitser-Winter Syndrome 1
Cleft upper lip, Long philtrum, Wide mouth, Midface retrusion, Thin upper lip vermilion, Trigonoc... OMIM:243310
Noonan Syndrome 13
High palate, Long philtrum, Wide mouth, Widely spaced teeth, Plagiocephaly, Microdontia, U-Shaped... OMIM:619087
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, High palate, Microphthalmia ORPHA:2528
Fetal Alcohol Syndrome
Non-midline cleft lip, Microdontia, Biparietal narrowing, Thin upper lip vermilion, Smooth philtr... ORPHA:1915
Culler-Jones Syndrome
Cleft palate, Cleft upper lip, Midface retrusion OMIM:615849
Waardenburg Syndrome Type 1
Meningocele, Cleft upper lip, Spina bifida, Aganglionic megacolon, Tented upper lip vermilion, Cl... ORPHA:894
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft palate, Cleft lip OMIM:612370
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Brachycephaly, High palate, Long philtrum, Plagiocephaly, Microdontia, Frontal bossing, Thin uppe... OMIM:610759
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Pleural effusion, Ascites, Angioedema, Abnormal heart valve morphology ORPHA:36412
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Downturned corners of mouth, Submucous cleft hard palate, Plagiocephaly OMIM:619680
Juberg-Hayward Syndrome
Anteriorly placed anus, Cleft upper lip OMIM:216100
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Midface retrusion, High palate, Cleft palate ORPHA:1135
Developmental And Epileptic Encephalopathy 1
Plagiocephaly OMIM:308350
Pentalogy Of Cantrell
Abnormal pericardium morphology, Non-midline cleft lip, Encephalocele, Ventricular septal defect,... ORPHA:1335
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Open mouth, Plagiocephaly, Umbilical hernia ORPHA:500159
Pierpont Syndrome
Widely spaced teeth, Everted lower lip vermilion, Thin upper lip vermilion, Microphthalmia, Smoot... ORPHA:487825
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Ventricular septal defect, Lymphedema, Predominantly lower limb lymphedema, Noni... OMIM:153400
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis ORPHA:231111
Hydrolethalus Syndrome 2
Cleft palate, Anencephaly, Hydrocephalus OMIM:614120
Frontonasal Dysplasia 2
Conical tooth, Brachycephaly, Parietal foramina, Anterior plagiocephaly, Encephalocele, Widely sp... OMIM:613451
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Blepharonasofacial Malformation Syndrome
Non-midline cleft lip, Tooth agenesis, Long philtrum, Cleft palate ORPHA:1252
Acrofacial Dysostosis, Palagonia Type
Oligodontia, Midface retrusion, Supernumerary tooth, Spina bifida occulta, High, narrow palate, U... ORPHA:1787
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft palate, Cleft upper lip OMIM:244200
Acrocallosal Syndrome
Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Prominent occiput, S... OMIM:200990
Cardiomyopathy, Dilated, 1A
Pericardial effusion, Dilated cardiomyopathy OMIM:115200
Solitary Median Maxillary Central Incisor
Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median maxillary centr... OMIM:147250
Trisomy 13
Hydrops fetalis, Long philtrum, Anophthalmia, Ventricular septal defect, Aplasia/Hypoplasia of th... ORPHA:3378
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion, Stomatitis OMIM:613011
Orofaciodigital Syndrome V
Lobulated tongue, Bifid tongue, High palate, Hypodontia, Ankyloglossia, Bifid uvula, Aganglionic ... OMIM:174300
Aica-Ribosiduria
Brachycephaly, Thin upper lip vermilion, Wide mouth ORPHA:250977
Primary Intestinal Lymphangiectasia
Pericardial effusion, Pleural effusion, Edema, Ascites, Generalized edema ORPHA:90362
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Opitz Gbbb Syndrome
Cleft upper lip, High palate, Anal atresia, Frontal bossing, Unilateral cleft lip, Solitary media... OMIM:300000
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, Narrow mouth, Abnormal heart morphology, Cleft palate, Small thenar eminence OMIM:239800
Orofaciodigital Syndrome Ix
High palate, Median cleft lip, Accessory oral frenulum, Cleft palate, Abnormality of the dentition OMIM:258865
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Brachycephaly, Plagiocephaly, Wide mouth, Widely spaced teeth, Thick lower lip vermilion, Short p... OMIM:280000
Nanophthalmos
Microphthalmia ORPHA:35612
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Patent foramen ovale, Long philtrum, Ventricular septal defect, Atrial septal defect, Oligohydram... OMIM:618494
Pediatric Systemic Lupus Erythematosus
Oral ulcer, Pericardial effusion, Pleural effusion, Edema, Myositis, Ascites ORPHA:93552
Branchio-Oculo-Facial Syndrome
Non-midline cleft lip, High palate, Upper lip pit, Deep philtrum, Microdontia, Dolichocephaly, Ev... ORPHA:1297
Dystonia, Juvenile-Onset
Cleft palate, Cleft upper lip OMIM:607371
Anauxetic Dysplasia 3
Midface retrusion, Oligodontia, Plagiocephaly OMIM:618853
Oculoauriculovertebral Spectrum With Radial Defects
Non-midline cleft lip, Aplasia/Hypoplasia affecting the eye, Atrioventricular canal defect, Wide ... ORPHA:2549
Craniosynostosis 2
Brachycephaly, Cleft soft palate, Turricephaly, Supernumerary tooth, Frontal bossing, Unicoronal ... OMIM:604757
Thoracoabdominal Syndrome
Cleft palate, Anencephaly, Hydrocephalus, Cleft upper lip OMIM:313850
Trisomy 9P
Brachycephaly, Non-midline cleft lip, Downturned corners of mouth, Dental crowding, Impacted tooth ORPHA:236
Meckel Syndrome, Type 6
Cleft upper lip, Anencephaly, Hydrocephalus, Cleft palate, Occipital encephalocele OMIM:612284
Robinow-Sorauf Syndrome
Craniosynostosis, Plagiocephaly, Pansynostosis OMIM:180750
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Downturned corners of mouth, Short philtrum, Microphthalmia, Ventricular septal defect ORPHA:93267
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Deep philtrum, Bilateral cleft lip, Bifid uvula, Short philtrum, Thin upper lip vermilion, Thin v... OMIM:618622
Gaucher Disease Type 1
Pedal edema, Pericardial effusion, Gingival bleeding, Ascites, Abnormal myocardium morphology ORPHA:77259
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Flat occiput, Unilateral cleft lip ORPHA:2511
Pseudotrisomy 13 Syndrome
Cleft upper lip, Encephalocele, Ventricular septal defect, Hydrocephalus, Median cleft lip and pa... OMIM:264480
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology, Muscular dystrophy ORPHA:300751
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Cleft upper lip, Ventricular septal defect, Perimembranous ventricular septal defect, Secundum at... OMIM:600987
Distal Monosomy 10P
Non-midline cleft lip, Anal atresia, Cleft palate, Ectopic anus ORPHA:1580
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft palate, Cleft upper lip OMIM:601076
Oculofaciocardiodental Syndrome
Tooth malposition, Long philtrum, Abnormal cardiac septum morphology, Delayed eruption of teeth, ... ORPHA:2712
Smith-Magenis Syndrome
Brachycephaly, Cleft upper lip, Delayed eruption of primary teeth, Taurodontia, Short philtrum, M... ORPHA:819
Acromelic Frontonasal Dysplasia
Meningocele, Brachycephaly, Encephalocele, Wide mouth, Median cleft lip, Median cleft palate ORPHA:1827
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:618775
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cleft palate, Cleft upper lip, Tooth agenesis OMIM:147950
Intellectual Disability-Strabismus Syndrome
High palate, Plagiocephaly, Wide mouth, Thick vermilion border, Abnormality of the dentition ORPHA:363528
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Isolated Cleft Lip
Supernumerary maxillary incisor, Non-midline cleft lip, Polyhydramnios, Bilateral cleft lip, Hypo... ORPHA:199302
Au-Kline Syndrome
Dental malocclusion, Sagittal craniosynostosis, Bifid tongue, High palate, Plagiocephaly, Oligodo... OMIM:616580
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth OMIM:217150
Intellectual Developmental Disorder, Autosomal Dominant 66
Brachycephaly, Plagiocephaly OMIM:619910
Acute Interstitial Pneumonia
Pericardial effusion, Pleural effusion, Peripheral edema ORPHA:79126
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, High palate, Microphthalmia, Oligohydramnios OMIM:619053
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Polyhydramnios, Ventricular septal defect, Limb hypertonia, Thick lower ... OMIM:616920
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Plagiocephaly, Turricephaly, Aganglionic megacolon, Hydrocephalus, Short philtrum, Frontal bossing OMIM:613603
Pierpont Syndrome
Widely spaced teeth, Prominent median palatal raphe, Everted lower lip vermilion, Microphthalmia,... OMIM:602342
Chromosome 15Q11.2 Deletion Syndrome
Irregular dentition, Cleft palate, Plagiocephaly, Smooth philtrum OMIM:615656
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Juvenile Idiopathic Arthritis
Pericardial effusion, Joint swelling ORPHA:92
Dihydropyrimidinase Deficiency
Plagiocephaly, Anal atresia OMIM:222748
Cofs Syndrome
Everted lower lip vermilion, Camptodactyly of finger, Microphthalmia, Arthrogryposis multiplex co... ORPHA:1466
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Hypodontia, Abnormality of dental morphology, Anodontia, Midface retrusion, Abno... ORPHA:3253
Hennekam Syndrome
Camptodactyly of finger, Hydrops fetalis, Delayed eruption of teeth, Pericardial effusion, Lymphe... ORPHA:2136
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Atrial septal defect, Facial hypotonia, Microphthalmia, Smooth philtrum OMIM:614526
Monosomy 18P
Lymphedema, Hypodontia, Short philtrum, Downturned corners of mouth, Holoprosencephaly, Microphth... ORPHA:1598
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Branchial anomaly, Plagiocephaly, Oligodontia, Bifid uvula, Macroglossia, Downturned... ORPHA:453499
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Exercise-induced rhabdomyo... ORPHA:26793
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Nanophthalmos 4
Microphthalmia OMIM:615972
Frontofacionasal Dysplasia
Brachycephaly, Cleft upper lip, Hypoplasia of the frontal bone, Cranium bifidum occultum, Bifid u... OMIM:229400
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Microphthalmia, Frontal encephalocele ORPHA:1528
Cerebrofaciothoracic Dysplasia
Brachycephaly, Cleft upper lip, Wide mouth, Midface retrusion, Cleft palate, Broad philtrum ORPHA:1394
Naxos Disease
Cleft upper lip ORPHA:34217
Craniotelencephalic Dysplasia
Arrhinencephaly, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Oculomaxillofacial Dysostosis
Cleft palate, Abnormality of the dentition, Median cleft lip ORPHA:1794
Orofaciodigital Syndrome I
Lobulated tongue, Cleft upper lip, Enamel hypoplasia, Myelomeningocele, Bifid tongue, High palate... OMIM:311200
Microphthalmia, Isolated 5
Cystoid macular edema, Microphthalmia OMIM:611040
Spondylo-Ocular Syndrome
Long philtrum, Ventricular septal defect, Facial hypotonia, Microphthalmia, Thin vermilion border... ORPHA:85194
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly ORPHA:96190
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft palate, Anophthalmia, Orbital encephalocele OMIM:164180
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Microdontia, Supernumerary tooth, Diastema, Agenesis of molar, Bicoronal synostosis, Anterior pla... OMIM:619718
Saethre-Chotzen Syndrome
Brachycephaly, Narrow palate, Plagiocephaly, Cleft palate, Craniosynostosis, Open bite ORPHA:794
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Pericardial effusion, Nonimmune hydrops fetalis, Pericarditis, Thin upper li... OMIM:212065
Aicardi-Goutieres Syndrome 9
Pericardial effusion, Left ventricular hypertrophy, Pericarditis, Edema, Ascites, Lower limb hype... OMIM:619487
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Cleft palate OMIM:601355
Fibrochondrogenesis
Cleft palate, Narrow mouth, Plagiocephaly ORPHA:2021
Acropectorovertebral Dysplasia
Spina bifida, Cleft palate, High, narrow palate ORPHA:957
Holoprosencephaly 14
Aqueductal stenosis, Proboscis, Hydrocephalus, Alobar holoprosencephaly, Median cleft lip, Fronta... OMIM:619895
Alg9-Cdg
Hydrops fetalis, Long philtrum, Wide mouth, Ventricular septal defect, Pericardial effusion, Abno... ORPHA:79328
Treacher-Collins Syndrome
Brachycephaly, Cleft upper lip, Encephalocele, High palate, Wide mouth, Abnormality of dental mor... ORPHA:861
Joubert Syndrome 14
Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Short philtrum, Tented uppe... OMIM:614424
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Long philtrum, Dolichocephaly, High, narrow palate, Umbilical hernia ORPHA:1101
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Pedal edema, Pleural effusion, Pulmonary edema ORPHA:199241
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Long philtrum, Joint contracture of the hand, Dela... OMIM:214150
Arthrogryposis And Ectodermal Dysplasia
Brachycephaly, Cleft upper lip, Oligodontia, Abnormal dental enamel morphology, Cleft palate, Oro... OMIM:601701
Trichohepatoneurodevelopmental Syndrome
Brachycephaly, High palate, Plagiocephaly, Wide mouth, Widely spaced teeth, Microdontia, Midface ... OMIM:618268
16P13.11 Microdeletion Syndrome
Cleft upper lip, Wide mouth, Thin upper lip vermilion, Holoprosencephaly, Smooth philtrum, Cleft ... ORPHA:261236
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Cleft upper lip, Abnormality of the dentition OMIM:273400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Cardiomegaly, Hydrops fetalis, Ventricular septal defect, Flexion contracture, Pl... OMIM:616897
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Long philtrum, Deep philtrum, Ventricular septal defect, Bifid uvula, Abnormal oral frenulum morp... ORPHA:404440
Hartsfield Syndrome
Cleft upper lip, Hypoplasia of the frontal bone, Semilobar holoprosencephaly, Alobar holoprosence... OMIM:615465
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Brachycephaly, High palate, Aqueductal stenosis, Long philtrum, Plagiocephaly, Hydrocephalus, Sho... OMIM:619512
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites OMIM:618183
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Short philtrum, Camptodactyly, Atrial septal def... OMIM:139210
Atelosteogenesis Type Ii
Plagiocephaly, Long philtrum, Midface retrusion, Thin upper lip vermilion, Bilateral cleft palate... ORPHA:56304
Verloove Vanhorick-Brubakk Syndrome
Non-midline cleft lip, Cleft palate ORPHA:3429
Aymé-Gripp Syndrome
Brachycephaly, Plagiocephaly, Long philtrum, Oligodontia, Hydrocephalus, Thin upper lip vermilion... ORPHA:1272
Tetraamelia Syndrome 2
Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip OMIM:618021
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
High palate, Long philtrum, Smooth philtrum, Plagiocephaly OMIM:300749
Orofaciodigital Syndrome Xvii
High, narrow palate, Median cleft lip OMIM:617926
Mohr Syndrome
Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Hydrocephalus, Median cleft lip, Acc... OMIM:252100
Microphthalmia With Limb Anomalies
Cleft upper lip, High palate, Deep philtrum, Frontal bossing, Cleft palate OMIM:206920
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Flat occiput, High palate, Normal pressure hydrocephalus, Plagiocephaly ORPHA:300570
Rapp-Hodgkin Syndrome
Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Hypodontia, Bifid uvula, Taurodon... OMIM:129400
Poems Syndrome
Pericardial effusion, Edema, Ascites, Pleural effusion ORPHA:2905
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Kapur-Toriello Syndrome
Camptodactyly of finger, Cleft upper lip, Ventricular septal defect, Joint contracture of the han... OMIM:244300
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
High palate, Plagiocephaly, Dolichocephaly, Frontal bossing, Dental crowding, Thick vermilion border OMIM:619005
Emanuel Syndrome
High palate, Long philtrum, Truncus arteriosus, Delayed eruption of teeth, Ventricular septal def... ORPHA:96170
Classical-Like Ehlers-Danlos Syndrome Type 2
Long uvula, High palate, Narrow palate, Periodontitis, Pericardial effusion, Mitral valve prolaps... ORPHA:536532
Neurofaciodigitorenal Syndrome
Brachycephaly, Abnormality of the philtrum, Abnormal oral mucosa morphology, Plagiocephaly ORPHA:2673
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Plagiocephaly, Spina bifida, Bifid uvula, Dolichocephaly, Frontal bossing, Narrow mouth, Exaggera... OMIM:619480
Carey-Fineman-Ziter Syndrome 1
High palate, Pierre-Robin sequence, Plagiocephaly, Microglossia, Cleft palate, Glossoptosis OMIM:254940
Genitopalatocardiac Syndrome
Non-midline cleft lip, Downturned corners of mouth, Hydrocephalus, Cleft palate ORPHA:2075
Omodysplasia 2
Long philtrum, Bilateral cleft lip, Frontal bossing, Tented upper lip vermilion, Cleft palate OMIM:164745
Baraitser-Winter Syndrome 2
Long philtrum, Wide mouth, Thin upper lip vermilion, Microphthalmia, Orofacial cleft OMIM:614583
Gapo Syndrome
Eruption failure, Plagiocephaly, Long philtrum, Thick lower lip vermilion, Frontal bossing, High,... OMIM:230740
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Conical tooth, Encephalocele, Oligohydramnios, Microphthalmia, Broad philtrum, Abnormality of the... ORPHA:228390
Popliteal Pterygium Syndrome
Fibrous syngnathia, Cleft upper lip, Lower lip pit, Bifid uvula, Spina bifida occulta, Cleft palate OMIM:119500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Hydrocephalus, Left ventricular hypertrophy, Microphthalmia OMIM:613153
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:2521
Fryns Syndrome
Non-midline cleft lip, Polyhydramnios, High palate, Long philtrum, Wide mouth, Abnormal cardiac s... ORPHA:2059
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Ventricular septal defect, Deep philtrum, Short philtrum, Atrial septal... ORPHA:435638
Stevenson-Carey Syndrome
Pierre-Robin sequence, Joint contracture of the hand, Camptodactyly, Atrial septal defect, Downtu... OMIM:611961
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia ORPHA:141333
Orofaciodigital Syndrome Vi
Lobulated tongue, Cleft upper lip, High palate, Tongue nodules, Arrhinencephaly, Incomplete cleft... OMIM:277170
Sandestig-Stefanova Syndrome
High palate, Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal... OMIM:618804
Maternal Uniparental Disomy Of Chromosome 6
Cleft palate, Cleft upper lip ORPHA:96181
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Brachycephaly, Exencephaly, Encephalocele, Long philtrum, Flat occiput ORPHA:2211
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
High palate, Plagiocephaly, Wide mouth, Short lingual frenulum, Craniosynostosis ORPHA:1521
Postaxial Acrofacial Dysostosis
Non-midline cleft lip, Cleft palate ORPHA:246
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Plagiocephaly, Long philtrum, Thin upper lip vermilion, Downturned corners of mouth, Smooth philtrum OMIM:618548
9Q33.3Q34.11 Microdeletion Syndrome
Brachycephaly, Plagiocephaly, Tented philtrum, Narrow mouth, Esophagitis, Thin vermilion border ORPHA:495818
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Tongue fasciculations, Frontal bossing, Plagiocephaly, Widely spaced teeth OMIM:617193
Holoprosencephaly 9
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Hydrocephalus, Short philtrum, Midface... OMIM:610829
Cranioectodermal Dysplasia 2
High palate, Plagiocephaly, Widely spaced teeth, Microdontia, Midface retrusion, Dolichocephaly, ... OMIM:613610
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conical tooth, Cleft upper lip, Widely spaced teeth, Selective tooth agenesis, Hypodontia, Cleft ... OMIM:106260
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Long philtrum, Deep philtrum, Lymphedema, Thick lower lip vermilion, Thin upper lip vermilion, Mi... OMIM:152950
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microphthalmia OMIM:300915
3Mc Syndrome 2
Cleft upper lip, Skull asymmetry, High palate, Downturned corners of mouth, Cleft palate, Cranios... OMIM:265050
Gaucher Disease Type 3
Hydrops fetalis, Pericardial effusion, Abnormal heart valve morphology, Aortic valve calcificatio... ORPHA:77261
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... OMIM:618280
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Braddock-Carey Syndrome 2
Cleft palate, Pierre-Robin sequence, Microphthalmia, Wide mouth OMIM:619981
Galloway-Mowat Syndrome 4
Plagiocephaly OMIM:617730
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Lobulated tongue, Encephalocele, Bifid tongue, Natal tooth, Midface retrusion, Anal atresia, Inco... OMIM:616300
Abnormal Hair, Joint Laxity, And Developmental Delay
Microdontia, Plagiocephaly OMIM:261990
Doors Syndrome
Brachycephaly, Short lingual frenulum, Prominent occiput, Spina bifida occulta, Sirenomelia, Clef... ORPHA:79500
Congenital Muscular Dystrophy With Cerebellar Involvement
Congenital muscular dystrophy, Hydrocephalus, Reduced muscle fiber alpha dystroglycan, Macrogloss... ORPHA:370959
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Microdontia, Microphthalmia, Membranous subvalvular aortic stenosis ORPHA:3191
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, High palate, Encephalocele, Delayed eruption of teeth, Advanced eruption of ... OMIM:619148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Cleft upper lip, Encephalocele, Muscular dystroph... OMIM:613150
Joubert Syndrome 1
Plagiocephaly, Macroglossia, Protruding tongue, Triangular-shaped open mouth, Occipital myelomeni... OMIM:213300
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Polyhydramnios, Microphthalmia ORPHA:2547
Chromosome 18Q Deletion Syndrome
Cleft upper lip, Bifid uvula, Short philtrum, Midface retrusion, Thin upper lip vermilion, Downtu... OMIM:601808
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Hydrocephalus OMIM:243440
Endocrine-Cerebroosteodysplasia
Thick upper lip vermilion, Natal tooth, Bilateral cleft lip, Hydrocephalus, Midface retrusion, Do... OMIM:612651
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dentinogenesis imperfecta, High palate, Long philtrum, Plagiocephaly, Microdontia, Hydrocephalus,... ORPHA:536467
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Atrial septal defect, Ventricular septal defect ORPHA:290
Holoprosencephaly 13, X-Linked
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Septo-optic dyspl... OMIM:301043
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Everted lower lip vermilion, Plagiocephaly OMIM:615471
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median tongue furrow, Ventricular ... OMIM:608670
Bartsocas-Papas Syndrome
Cleft palate, Narrow mouth, Median cleft lip ORPHA:1234
Constricting Bands, Congenital
Cleft palate, Cleft upper lip, Encephalocele OMIM:217100
Developmental Delay With Variable Neurologic And Brain Abnormalities
Knee flexion contracture, Widely spaced teeth, Microdontia, Camptodactyly, Microphthalmia OMIM:619694
Ring Chromosome 7 Syndrome
Brachycephaly, Plagiocephaly, Bifid uvula, Short philtrum, Holoprosencephaly, Narrow mouth, Thin ... ORPHA:1449
Osteopathia Striata With Cranial Sclerosis
Dental malocclusion, Cleft upper lip, Pierre-Robin sequence, High palate, Natal tooth, Thick lowe... OMIM:300373
Heart Defects, Congenital, And Other Congenital Anomalies
Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular s... OMIM:600001
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Deep philtrum, Downturned corners of mouth, Microphthalmia, Cleft lip, Abnormal he... OMIM:618571
3Mc Syndrome 1
Cleft upper lip, Skull asymmetry, Coronal craniosynostosis, Dental crowding, Spina bifida occulta... OMIM:257920
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Nager Syndrome
Abnormal palate morphology, Non-midline cleft lip, Wide mouth, Cleft palate ORPHA:245
Aicardi Syndrome
Cleft upper lip, Plagiocephaly, Malabsorption, Short philtrum, Intestinal polyposis, Cleft palate... ORPHA:50
Cleidocranial Dysplasia 2
Plagiocephaly, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Ventricular septal defect, Abnormal cardiac septum morphology, Coronary artery f... OMIM:614294
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Microphthalmia ORPHA:77298
Intellectual Developmental Disorder, Autosomal Dominant 53
Brachycephaly, Wide mouth, Intestinal malrotation, Posterior plagiocephaly, Duodenal atresia OMIM:617798
Acrofrontofacionasal Dysostosis 1
Brachycephaly, Cleft upper lip, Wide mouth, Oligodontia, Cleft palate OMIM:201180
Warburg Micro Syndrome 1
Thin vermilion border, Narrow mouth, Microphthalmia OMIM:600118
Meckel Syndrome, Type 2
Meningocele, Encephalocele, Anencephaly, Intestinal malrotation, Cleft palate OMIM:603194
Holoprosencephaly 3
Proboscis, Bifid uvula, Midface retrusion, Solitary median maxillary central incisor, Holoprosenc... OMIM:142945
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Brachycephaly, Plagiocephaly, Widely spaced teeth, Delayed eruption of teeth, Microdontia, Alveol... OMIM:301072
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Q Fever
Endocarditis, Pericardial effusion, Pericarditis, Pleural effusion, Myocarditis, Abnormal heart v... ORPHA:781
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Lens coloboma, Small thenar eminence, Microphthalmia, Joint contracture of ... OMIM:618914
Recombinant 8 Syndrome
Camptodactyly of finger, Cleft upper lip, Ventricular septal defect, Abnormal oral frenulum morph... ORPHA:96167