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Gene: Shroom3 MGI:1351655

Gene Summary

Name:

shroom family member 3

Synonyms:

Shrm, Shrm3, D5Ertd287e

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
microphthalmia	Shroom3^em1(IMPC)Bay	HOM	E18.5
preweaning lethality, complete penetrance	Shroom3^em1(IMPC)Bay	HOM	Early adult
spina bifida	Shroom3^em1(IMPC)Bay	HOM	E18.5
abnormal body wall morphology	Shroom3^em1(IMPC)Bay	HOM	E18.5
abnormal facial morphology	Shroom3^em1(IMPC)Bay	HOM	E18.5
protruding tongue	Shroom3^em1(IMPC)Bay	HOM	E18.5
facial cleft	Shroom3^em1(IMPC)Bay	HOM	E18.5
abnormal tail morphology	Shroom3^em1(IMPC)Bay	HOM	E18.5
exencephaly	Shroom3^em1(IMPC)Bay	HOM	E18.5

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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.

MicroCT E18.5

Embryo reconstruction

6 Images

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Human diseases caused by Shroom3 mutations

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

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

Human diseases associated with Shroom3 (0 diseases)
Human diseases predicted to be associated with Shroom3 (689 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Shroom3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Fryns Microphthalmia Syndrome	Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia	OMIM:600776
Facial Clefting, Oblique, 1	Microphthalmia, Tessier number 4 facial cleft, Cleft palate, Cleft upper lip	OMIM:600251
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft li...	ORPHA:1104
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Facial cleft, Anterior...	OMIM:601357
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Facial cl...	OMIM:607597
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus, Gastroschisis	ORPHA:2476
Acalvaria	Omphalocele, Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly	ORPHA:945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue	OMIM:618732
Cerebrooculonasal Syndrome	Anophthalmia, Facial cleft, High palate, Widely spaced teeth, Solitary median maxillary central i...	ORPHA:66625
Frontonasal Dysplasia 3	Microphthalmia, Facial cleft, Cleft palate	OMIM:613456
Unilateral Ocular Duplication	Encephalocele, Midline facial cleft, Cleft palate	ORPHA:3374
Schisis Association	Omphalocele, Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, U...	ORPHA:63862
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Microphthalmia	OMIM:611638
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal oral frenulum morphology, Sol...	ORPHA:952
Supernumerary Nostril	Facial cleft	ORPHA:141096
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Inguinal hernia, Spina bifida, Long philtrum	OMIM:211960
Oculomaxillofacial Dysostosis	Median cleft lip, Abnormality of the dentition, Facial cleft, Cleft palate, Aplasia/Hypoplasia af...	ORPHA:1794
Frontofacionasal Dysplasia	Encephalocele, Non-midline cleft lip, Facial cleft, Cleft palate, Microphthalmia	ORPHA:1791
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Inguinal hernia, Abnormality of the dentition, Carious teeth, Facial cleft, Toot...	ORPHA:1786
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Caudal Duplication	Omphalocele, Spina bifida, Myelomeningocele, Spinal cord lesion, Intestinal duplication	ORPHA:1756
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border,...	OMIM:612938
Constricting Bands, Congenital	Omphalocele, Encephalocele, Cleft upper lip, Facial cleft, Cleft palate, Gastroschisis, Bladder e...	OMIM:217100
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:261800
Intellectual Developmental Disorder, Autosomal Dominant 58	Inguinal hernia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hig...	OMIM:618106
Hypertelorism, Microtia, Facial Clefting Syndrome	Narrow mouth, Facial cleft, Cleft palate, Cleft upper lip	OMIM:239800
Down Syndrome	Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion...	ORPHA:870
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
9q subtelomeric deletion syndrome	Protruding tongue	DECIPHER:52
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Inguinal hernia, Protruding tongue, Hydrocephalus, Gingival overgrowth, ...	ORPHA:93400
Icf Syndrome	Communicating hydrocephalus, Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia	ORPHA:2268
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,...	OMIM:200990
Acropectorovertebral Dysplasia	High, narrow palate, Spina bifida, Cleft palate	ORPHA:957
Craniorachischisis	Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia...	ORPHA:63260
Gombo Syndrome	Microphthalmia	OMIM:233270
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ...	ORPHA:861
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:311895
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele, Hydrocephalus, Orofacial cleft	ORPHA:324416
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Meningocele, Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Juvenile Sialidosis Type 2	Umbilical hernia, Inguinal hernia, Gingival overgrowth, Protruding tongue	ORPHA:93399
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate	ORPHA:2432
Oculocerebrocutaneous Syndrome	Wide mouth, Hydrocephalus, Facial cleft, Orofacial cleft	ORPHA:1647
Acromelic Frontonasal Dysostosis	Encephalocele, Midline facial cleft, Cleft palate	OMIM:603671
Anencephaly 2	Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate	OMIM:619452
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Camptodactyly Syndrome, Guadalajara Type 1	Spina bifida, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned corners ...	ORPHA:1327
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:98795
Mosaic Trisomy 9	Intestinal malrotation, Spina bifida, Facial cleft, Cleft palate, High palate, Microphthalmia	ORPHA:99776
Meckel Syndrome, Type 2	Omphalocele, Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Micro...	OMIM:603194
Congenital Disorder Of Glycosylation, Type Iia	Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,...	OMIM:212066
Isolated Klippel-Feil Syndrome	Anal atresia, Ectopic anus, Spina bifida, Cleft palate	ORPHA:2345
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long philtrum, Smooth phi...	OMIM:618580
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia	OMIM:207950
Kleefstra Syndrome 1	Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia, Everted lower lip ver...	OMIM:610253
Joubert Syndrome 15	Exencephaly	OMIM:614464
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Malabsorption, Protruding tongue	OMIM:242860
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Mmep Syndrome	Microphthalmia, Median cleft lip, Orofacial cleft	ORPHA:3434
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, High palate, Narrow mouth	ORPHA:2528
Angelman Syndrome Due To A Point Mutation	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:411511
Angelman Syndrome	Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue	OMIM:105830
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Facial cleft, Tracheoesophageal fistula, Orofacial cleft, Microphthalmia	ORPHA:268249
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Wide mouth, Gingival overgrowth, Protruding tongue	OMIM:618797
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus	ORPHA:1528
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Everted lower lip vermilion, Smooth philtrum, Protruding tongue	ORPHA:324410
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Protruding tongue, Downturned corners of mouth, Macroglossia, Everted lower lip ...	ORPHA:96147
Marshall-Smith Syndrome	Open mouth, Gingival overgrowth, Protruding tongue	ORPHA:561
Iniencephaly	Omphalocele, Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Orofacial...	ORPHA:63259
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Cleft palate	OMIM:616570
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Lip pit, Facial cleft, Hypodontia, Microphthalmia, Abnormal palate morphology	ORPHA:1236
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, Smooth philtrum	OMIM:617804
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia	OMIM:611561
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microcephaly 26, Primary, Autosomal Dominant	Long philtrum, Gingival overgrowth, Protruding tongue	OMIM:619179
Ring Chromosome 22 Syndrome	Thick vermilion border, Protruding tongue	ORPHA:1446
Hartsfield Syndrome	Encephalocele, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly, Microphthalmia	ORPHA:2117
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Pelvis-Shoulder Dysplasia	Spina bifida, Hydrocephalus, Bilateral microphthalmos, Microglossia, Cleft palate, Hydranencephal...	ORPHA:2839
Raine Syndrome	Natal tooth, Protruding tongue, Hydrocephalus, Gingival overgrowth, Cleft palate, Wide mouth, Hig...	OMIM:259775
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Cleft palate, Microphthalmia	OMIM:613885
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,...	OMIM:301040
Fountain Syndrome	Spina bifida, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Everted lower lip vermi...	ORPHA:3219
Aplasia Cutis Congenita	Spinal dysraphism	ORPHA:1114
Joubert Syndrome 1	Macroglossia, Occipital myelomeningocele, Triangular-shaped open mouth, Protruding tongue	OMIM:213300
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:98794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus	OMIM:614830
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia, Cleft palate	OMIM:164180
Nanophthalmos	Microphthalmia	ORPHA:35612
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue	OMIM:620352
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Inguinal hernia, Cleft palate, Tooth agenesis, High palate, Microphthalmia	ORPHA:1135
Waardenburg Syndrome Type 1	Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl...	ORPHA:894
2Q24 Microdeletion Syndrome	Microphthalmia, Abnormal oral frenulum morphology, Short philtrum, Cleft palate	ORPHA:1617
Frontonasal Dysplasia 2	Encephalocele, Tessier number 13 facial cleft, Conical tooth, Widely spaced teeth, Microphthalmia...	OMIM:613451
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Gingival overgrowth, Narrow mouth	OMIM:230600
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Ritscher-Schinzel Syndrome 2	Intestinal malrotation, High palate, Short philtrum, Protruding tongue	OMIM:300963
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Anophthalmia, Dental crowding, Cleft upper li...	OMIM:219000
Pierpont Syndrome	Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Widely spaced teeth, Everted lo...	ORPHA:487825
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High palate, Spina bifi...	ORPHA:2437
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Non-midline cleft lip, Meningocele, Anencephaly, Cleft palate, Spin...	ORPHA:1908
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia, Facial cleft, Cleft palate	ORPHA:306542
Nanophthalmos 4	Microphthalmia	OMIM:615972
Congenital Disorder Of Glycosylation, Type Iie	Protruding tongue, Thick vermilion border, Smooth philtrum, Narrow mouth	OMIM:608779
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Cerebrocostomandibular Syndrome	Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranencephaly, Short h...	ORPHA:1393
Peroxisome Biogenesis Disorder 1A (Zellweger)	Macroglossia, High, narrow palate, High palate, Protruding tongue	OMIM:214100
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Protruding tongue, Deep philtrum, Premature loss of teeth, Gingival overgro...	ORPHA:99843
Angelman Syndrome	Wide mouth, Widely spaced teeth, Protruding tongue	ORPHA:72
Vacterl With Hydrocephalus	Inguinal hernia, Anophthalmia, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephal...	ORPHA:3412
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Microphthalmia, Syndromic 8	Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Microph...	OMIM:601349
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Microphthalmia	OMIM:611134
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Protruding tongue	OMIM:619580
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Biemond Syndrome Type 2	Microphthalmia, Hydrocephalus	ORPHA:141333
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Robin Sequence-Oligodactyly Syndrome	Glossoptosis, Cleft palate, Abnormality of the dentition	ORPHA:3104
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate	OMIM:615524
Hydrolethalus	Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cle...	ORPHA:2189
Trisomy 20P	Smooth philtrum, Inguinal hernia, Spina bifida, Abnormality of the dentition, Downturned corners ...	ORPHA:261318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Macroglossia, Hydrocephalus	OMIM:613155
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Inguinal hernia, Protruding tongue, High palate, Umbilical hernia	OMIM:617062
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Pierpont Syndrome	Smooth philtrum, Prominent median palatal raphe, Thin vermilion border, Widely spaced teeth, Ever...	OMIM:602342
Isolated Arrhinia	Microphthalmia, Facial cleft	ORPHA:1134
Bartsocas-Papas Syndrome 1	Omphalocele, Anal stenosis, Inguinal hernia, Cleft upper lip, Facial cleft, Cleft palate, Oral sy...	OMIM:263650
Sirenomelia	Spina bifida, Tracheoesophageal fistula, Anal atresia, Sirenomelia	ORPHA:3169
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Frontonasal Dysplasia 1	Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary central incisors, Cranium...	OMIM:136760
3Mc Syndrome 3	Facial cleft, Cleft palate, Cleft upper lip	OMIM:248340
Holoprosencephaly 1	Alobar holoprosencephaly, Facial cleft, Microphthalmia, Ethmocephaly, Median cleft lip and palate	OMIM:236100
Auriculocondylar Syndrome 2A	Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:614669
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Microdontia, Ena...	OMIM:619777
Diabetic Embryopathy	Hydrocephalus, Aplasia/Hypoplasia affecting the eye, Cleft palate, Spinal dysraphism	ORPHA:1926
Trisomy 18	Omphalocele, Spina bifida, Esophageal atresia, Non-midline cleft lip, Anencephaly, Narrow palate,...	ORPHA:3380
Xk Aprosencephaly Syndrome	Microphthalmia, Anal atresia, Narrow mouth	ORPHA:3469
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Tongue atrophy, Tongue fasciculations	OMIM:613435
Fontaine Progeroid Syndrome	Thin upper lip vermilion, Protruding tongue, High, narrow palate, Hydrocephalus, Anteriorly place...	OMIM:612289
Microphthalmia, Syndromic 13	Microphthalmia, Widely-spaced incisors	OMIM:300915
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Spin...	ORPHA:2092
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Spina bifida, High, narrow palate, Supernumerary tooth, De...	OMIM:234100
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Open mouth, Protruding tongue	ORPHA:258
Braddock-Carey Syndrome 2	Wide mouth, Microphthalmia, Pierre-Robin sequence, Cleft palate	OMIM:619981
Cofs Syndrome	Microphthalmia, Everted lower lip vermilion	ORPHA:1466
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Hydrocephalus, Smooth philtrum	OMIM:602501
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Amish Lethal Microcephaly	Cleft soft palate, Spina bifida	ORPHA:99742
Catel-Manzke Syndrome	Glossoptosis, Oral synechia, Cleft palate	ORPHA:1388
Achondrogenesis, Type Ia	Protruding tongue	OMIM:200600
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Solitary Median Maxillary Central Incisor	Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Holoprosencephaly, Torus palatinus...	OMIM:147250
Triploidy	Hepatomegaly, Intestinal malrotation, Abnormality of the pancreas, Hydrocephalus, Meningocele, Ab...	ORPHA:3376
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Monosomy 18P	Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodontia, Holoprosenc...	ORPHA:1598
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Downturned corners of mouth, Microphthalmia, Short philtrum, Omphalocele	ORPHA:93267
Lumbar Syndrome	Spina bifida, Myelomeningocele, Ectopic anus, Bladder exstrophy, Anal atresia	ORPHA:83628
Chromosome 17P13.1 Deletion Syndrome	Spina bifida, High, narrow palate, Hydrocephalus, Everted lower lip vermilion, High palate, Short...	OMIM:613776
Waardenburg Syndrome, Type 1	Spina bifida, Myelomeningocele, Orofacial cleft, Hypoplastic iris stroma, Smooth philtrum	OMIM:193500
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia	OMIM:614583
Seckel Syndrome 2	Microdontia, Microphthalmia, Microglossia	OMIM:606744
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Degcags Syndrome	Jejunal atresia, Protruding tongue, Hiatus hernia, Pyloric stenosis, Wide mouth, High palate, Thi...	OMIM:619488
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Neu-Laxova Syndrome 2	Spina bifida, High palate, Cleft palate	OMIM:616038
Cloacal Exstrophy	Omphalocele, Intestinal malrotation, Spina bifida, Myelomeningocele, Intestinal duplication, Blad...	ORPHA:93929
Warburg Micro Syndrome 1	Microphthalmia, Thin vermilion border, Narrow mouth	OMIM:600118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Hartnup Disorder	Glossitis	OMIM:234500
Blomstrand Lethal Chondrodysplasia	Natal tooth, Long philtrum, Protruding tongue	ORPHA:50945
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Abnormality of the dentition, Conical tooth, Microphthalmia, Broad philtrum	ORPHA:228390
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hydrocephalus, Hamartomatous s...	OMIM:109400
Temtamy Syndrome	Microphthalmia, Thick lower lip vermilion, Abnormal palate morphology	ORPHA:1777
Fanconi Anemia, Complementation Group R	Tethered cord, Hydrocephalus, Agenesis of permanent teeth, Microphthalmia, Anal atresia	OMIM:617244
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus	ORPHA:858
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus	OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Hydrocephalus, Meningocele, Cleft palate, Short philtr...	OMIM:614424
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microdontia, Microphthalmia, Widely spaced teeth	OMIM:619694
Nail-Patella Syndrome	Spina bifida, Microphakia, Cleft palate, Cleft upper lip	OMIM:161200
Neu-Laxova Syndrome	Abnormality of the philtrum, Spina bifida, Submucous cleft hard palate, Cleft palate, Thick vermi...	ORPHA:2671
Cat-Eye Syndrome	Microphthalmia, Anal atresia	ORPHA:195
Frontorhiny	Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Bifid...	ORPHA:391474
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Deep philtrum, Cleft palat...	OMIM:612530
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Wildervanck Syndrome	Meningocele	ORPHA:3456
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Tethered cord, Bifid uvula, Spinal dysraphism	OMIM:617660
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis	OMIM:614876
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Microphthalmia	ORPHA:85284
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th...	OMIM:309580
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ...	ORPHA:2712
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Limb Body Wall Complex	Encephalocele, Spina bifida, Cleft lip, Myelomeningocele, Hydrocephalus, Abnormal spinal cord mor...	ORPHA:2369
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Encephalocele, Tented upper lip vermilion, Cleft ...	OMIM:619148
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Down Syndrome	Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia	OMIM:190685
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Hydrocephalus, Ankyloglossia	OMIM:602361
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum	ORPHA:166100
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Holoprosencephaly	Omphalocele, Encephalocele, Median cleft lip, Anophthalmia, Bilateral cleft lip, Deep philtrum, H...	ORPHA:2162
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Blepharocheilodontic Syndrome 1	Neural tube defect, Anal atresia	OMIM:119580
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Deep philtrum, Cleft palate, Downturned corners...	ORPHA:404440
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Macroglossia, Microphthalmia	ORPHA:370959
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Wide mouth, Microphthalmia, Hydrocephalus, Short philtrum	ORPHA:163966
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Mi...	ORPHA:77298
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Long philtrum	OMIM:300887
Joubert Syndrome 18	Lobulated tongue, Occipital encephalocele, Cleft palate	OMIM:614815
17Q12 Microduplication Syndrome	Microphthalmia, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Trisomy 8Q	Non-midline cleft lip, Myelomeningocele, Cleft palate, Orofacial cleft, Abnormal oral frenulum mo...	ORPHA:1752
22Q11.2 Deletion Syndrome	Inguinal hernia, Aganglionic megacolon, Intestinal malrotation, Abnormal dental enamel morphology...	ORPHA:567
Sacral Defect With Anterior Meningocele	Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Re...	OMIM:600145
Bilateral Perisylvian Polymicrogyria	Protruding tongue	ORPHA:98889
Aicardi Syndrome	Spina bifida, Hiatus hernia, Cleft upper lip, Cleft palate, Microphthalmia	OMIM:304050
Ring Chromosome 10 Syndrome	Microphthalmia, Thin vermilion border, Aganglionic megacolon, Long philtrum	ORPHA:1438
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Microphthalmia	OMIM:614105
Subaortic Stenosis-Short Stature Syndrome	Microdontia, Microphthalmia, Inguinal hernia	ORPHA:3191
Fibular Hemimelia	Anophthalmia, Spina bifida	ORPHA:93323
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy	ORPHA:496689
Trisomy 13	Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Cleft palate, ...	ORPHA:3378
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B...	ORPHA:1942
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Hydrocephalus	OMIM:613153
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Alg3-Cdg	Abnormality of the gastrointestinal tract, Neural tube defect, Macroglossia, High palate, Decreas...	ORPHA:79321
Holoprosencephaly 7	Omphalocele, Bilateral cleft palate, Median cleft lip, Occipital meningocele, Bilateral cleft lip...	OMIM:610828
Auriculocondylar Syndrome 1	Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-...	OMIM:602483
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Carious teeth, Thin vermilion border, Long philtrum, Microphthalmia	OMIM:214150
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Natal tooth, Encephalocele, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete...	OMIM:616300
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Cataract-Intellectual Disability-Hypogonadism Syndrome	Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition	ORPHA:1387
Nance-Horan Syndrome	Microphthalmia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Cleft upper lip, Esophageal atresia, Facial cleft, Ectopic anus, Long philtrum, Bifi...	ORPHA:93271
Fanconi Anemia, Complementation Group S	Macrodontia, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip vermilion	OMIM:617883
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, High, narrow palate, Cleft palate, Anteriorly placed anus, Long philtru...	OMIM:618494
Jacobsen Syndrome	Smooth philtrum, Inguinal hernia, Intestinal malrotation, Spina bifida, Pyloric stenosis, Abnorma...	ORPHA:2308
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short ph...	OMIM:616449
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long philtrum, Microphthalmia	OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphth...	OMIM:613150
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Thin vermilion border, Long philtrum	ORPHA:85194
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Fanconi Anemia	Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Hydrocephalus, Tracheoesoph...	ORPHA:84
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Downturned corners of mouth, Macroglossia, Wide mouth, High palate, Wid...	ORPHA:369891
Bartsocas-Papas Syndrome 2	Microphthalmia, Accessory oral frenulum, Bilateral cleft lip and palate	OMIM:619339
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thin upper lip vermilion, Optic nerve hypoplasia, Spina bifida, Long philtrum, Microphthalmia	ORPHA:508498
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Microphthalmia, Smooth philtrum	OMIM:618652
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cleft palate, Downturned corners of mouth, High palate, Long philtrum, Microphthalmia	ORPHA:163649
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Orofacial cleft, Wide mouth, Long philtrum, Microphtha...	OMIM:243310
Fetal Alcohol Syndrome	Thin upper lip vermilion, Non-midline cleft lip, Cleft palate, Microdontia, Microphthalmia, Smoot...	ORPHA:1915
Marden-Walker Syndrome	Inguinal hernia, High, narrow palate, Pyloric stenosis, Cleft palate, High palate, Narrow mouth, ...	OMIM:248700
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Glossoptosis, Meningocele	ORPHA:2031
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Lipoid Proteinosis	Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala...	ORPHA:530
Multiple Benign Circumferential Skin Creases On Limbs	Inguinal hernia, Cleft palate, Umbilical hernia, Long philtrum, Microphthalmia	ORPHA:2505
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Duodenal stenosis	ORPHA:2547
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Orofaciodigital Syndrome Xv	Lobulated tongue, Midline notch of upper alveolar ridge	OMIM:617127
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Encephalocele, Intestinal malrotation, Hydrocephalus, Cleft palate, Orofacial cleft,...	ORPHA:2166
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Narrow mouth	OMIM:614833
Pseudotrisomy 13 Syndrome	Omphalocele, Encephalocele, Cleft upper lip, Hydrocephalus, Holoprosencephaly, Microphthalmia, An...	OMIM:264480
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia	OMIM:619318
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly, Long philtrum	ORPHA:2211
Pagod Syndrome	Omphalocele, Encephalocele, Meningocele, Spina bifida	ORPHA:991
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum	OMIM:613443
Stevenson-Carey Syndrome	Downturned corners of mouth, Microphthalmia, Pierre-Robin sequence, Narrow mouth	OMIM:611961
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Exaggerated cupid's bow, Spina bifida, Thick vermilion border, Narrow mouth, Bifid...	OMIM:619480
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Esophageal atresia, Cleft soft palate, Smooth philtrum	OMIM:614526
Neurocutaneous Melanocytosis	Death in infancy, Meningocele	ORPHA:2481
Campomelic Dysplasia	Irregular dentition, Spina bifida, Carious teeth, Hydrocephalus, Submucous cleft hard palate, Cle...	OMIM:114290
Temtamy Syndrome	Microphthalmia, Long philtrum, Dental crowding, Hypoplasia of teeth	OMIM:218340
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Exaggerated cupid's bow, Cleft lip, Deep philtrum, Cleft palate, Short philtrum, Thick vermilion ...	OMIM:620098
Curry-Jones Syndrome	Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intestinal malrotation, Lip ...	OMIM:601707
Auriculocondylar Syndrome	Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala...	ORPHA:137888
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth	OMIM:613604
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
3P25.3 Microdeletion Syndrome	Thin upper lip vermilion, High, narrow palate, Deep philtrum, Pyloric stenosis, Cleft palate, Dow...	ORPHA:435638
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Neu-Laxova Syndrome 1	Spina bifida, Cleft upper lip, Swollen lip, Thick lower lip vermilion, Cleft palate, Short umbili...	OMIM:256520
Adams-Oliver Syndrome 2	Microphthalmia, Hydrocephalus	OMIM:614219
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Inguinal hernia, Lens coloboma, Umbilical hernia	OMIM:618914
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Hydrocephalus	OMIM:300863
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Hydrocephalus, Abnormally large globe	OMIM:615249
Fryns Syndrome	Omphalocele, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malr...	ORPHA:2059
Moebius Syndrome	Microphthalmia, High palate, Bifid uvula, Abnormality of the dentition	OMIM:157900
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Hydrocephalus, Orofacial cleft, Narrow mouth, Microphthalmia, Anal atresia	ORPHA:3301
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Glossoptosis, Pierre-Robin sequence, Cleft palate	OMIM:620269
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
3Q29 Microduplication Syndrome	Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anus, High palate, Aniridia, M...	ORPHA:251038
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Pyloric stenosis, Eclabion, Microphthalmia, Meckel diverticulum	OMIM:616395
Sandestig-Stefanova Syndrome	Microphthalmia, High palate, Orofacial cleft	OMIM:618804
Rubinstein-Taybi Syndrome 1	Thin upper lip vermilion, Dental crowding, Spina bifida, High, narrow palate, Talon cusp, Dental ...	OMIM:180849
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m...	OMIM:620107
Deafness-Craniofacial Syndrome	Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala...	ORPHA:3241
Heart And Brain Malformation Syndrome	High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted lower lip vermilion, Microphth...	OMIM:616920
Walker-Warburg Syndrome	Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula	ORPHA:899
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Bilateral cleft lip and palate	ORPHA:2003
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis	ORPHA:54028
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Microphthalmia With Limb Anomalies	Anophthalmia, Cleft upper lip, Deep philtrum, Cleft palate, High palate, Microphthalmia	OMIM:206920
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Dental malocclusion, Hypoplasia of teeth, Macrodontia...	OMIM:257850
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism	OMIM:603546
Joubert Syndrome 37	Microphthalmia, High palate	OMIM:619185
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mouth, Long philtrum, Microphthalmia	OMIM:618571
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper...	OMIM:608670
Manitoba Oculotrichoanal Syndrome	Omphalocele, Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia	OMIM:248450
Rodrigues Blindness	Microphthalmia, Tooth malposition	OMIM:268320
Ulnar Hemimelia	Spinal dysraphism	ORPHA:93320
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, High palate	OMIM:619053
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia, Microphthalmia	ORPHA:2728
Koolen-De Vries Syndrome Due To A Point Mutation	Abnormal dental morphology, Spina bifida, Hydrocephalus, Dural ectasia, Everted lower lip vermili...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Abnormal dental morphology, Spina bifida, Hydrocephalus, Dural ectasia, Everted lower lip vermili...	ORPHA:363958
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Nance-Horan Syndrome	Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc...	OMIM:302350
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal...	OMIM:174300
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
1Q21.1 Microdeletion Syndrome	Inguinal hernia, Hydrocephalus, High palate, Long philtrum, Microphthalmia, Ankyloglossia	ORPHA:250989
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Failure...	ORPHA:2250
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Ohdo Syndrome, X-Linked	Inguinal hernia, Hiatus hernia, Thin vermilion border, High palate, Widely spaced teeth, Narrow m...	OMIM:300895
Choreoacanthocytosis	Protruding tongue	ORPHA:2388
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Hydrocephalus, Agenesis of incisor, Dental...	OMIM:610829
Thrombocytopenia-Absent Radius Syndrome	Syringomyelia, Meckel diverticulum, Spina bifida, Cleft palate	OMIM:274000
Meckel Syndrome	Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Anencephaly, Cleft ...	ORPHA:564
Auriculocondylar Syndrome 3	Glossoptosis, Bifid uvula	OMIM:615706
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Spinal dysraphism	OMIM:612918
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Hydrocephalus, Cleft palate, Tongue nodules, Lobulated...	OMIM:252100
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Malabsorption, Gingival overgrowth, Spinal dysraphism, Aplasia/Hypoplasia ...	ORPHA:175
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, High palate,...	OMIM:618874
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, High palate	ORPHA:139471
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate	OMIM:610125
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue...	OMIM:258860
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,...	ORPHA:193
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro...	OMIM:618727
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue	ORPHA:2928
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Cronkhite-Canada Syndrome	Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ...	ORPHA:2930
Split Cord Malformation	Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Meni...	ORPHA:573278
8Q21.11 Microdeletion Syndrome	Exaggerated cupid's bow, Abnormality of the dentition, Downturned corners of mouth, High palate, ...	ORPHA:284160
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Wid...	OMIM:243605
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Cousin Syndrome	Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Hydranencephaly, Microphthalmia, Microglo...	OMIM:260660
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Thin vermilion border, Long philtrum, Microphthalmia, Bifid uvula	OMIM:241410
3Q29 Microdeletion Syndrome	Dental crowding, Abnormality of the dentition, Orofacial cleft, High palate, Everted lower lip ve...	ORPHA:65286
Autosomal Recessive Spondylocostal Dysostosis	Umbilical hernia, Meningocele, Spina bifida occulta, Cleft palate	ORPHA:2311
Orofaciodigital Syndrome I	Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Myelo...	OMIM:311200
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft ...	ORPHA:464738
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Syringomyelia	ORPHA:531151
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Warburg Micro Syndrome 4	Microphthalmia, Long philtrum, Narrow mouth	OMIM:615663
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia	ORPHA:3201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Meningoencephalocele, Hydroceph...	OMIM:236670
Adams-Oliver Syndrome	Encephalocele, Microphthalmia, Hydrocephalus, Esophageal varix	ORPHA:974
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip...	OMIM:616367
Congenital Fibrinogen Deficiency	Microphthalmia, Volvulus, Gingival bleeding	ORPHA:335
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis, Spinal cord compression	ORPHA:93346
Martsolf Syndrome 1	Inguinal hernia, High palate, Short philtrum, Long philtrum, Microphthalmia, Tooth malposition	OMIM:212720
Skin Creases, Congenital Symmetric Circumferential, 1	Narrow mouth, Cleft palate, High palate, Long philtrum, Microphthalmia	OMIM:156610
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Tongue fasciculations	OMIM:614678
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Bilateral microphthalm...	ORPHA:2563
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Microphthalmia, Cleft palate, Narrow mouth	OMIM:251230
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Hydrocephalus	OMIM:616538
Mandibuloacral Dysplasia	Dental crowding, Abnormally large globe, Abnormal tongue morphology, Hypoplasia of teeth, High pa...	ORPHA:2457
Warburg Micro Syndrome 3	Downturned corners of mouth, Microphthalmia, Narrow palate	OMIM:614222
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Spina bifida	OMIM:162200
Kapur-Toriello Syndrome	Microphthalmia, Intestinal malrotation, Orofacial cleft	ORPHA:2328
Chromosome 8Q21.11 Deletion Syndrome	Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth, High palate, Short philtrum, ...	OMIM:614230
Cleidocranial Dysplasia	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ...	ORPHA:1452
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Median cleft palate	ORPHA:1827
Joubert Syndrome 2	Encephalocele, Microphthalmia, Hydrocephalus, High palate	OMIM:608091
Otopalatodigital Syndrome Type 2	Omphalocele, Encephalocele, Myelomeningocele, Pierre-Robin sequence, Hydrocephalus, Cleft palate,...	ORPHA:90652
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Glossoptosis, Cleft palate	OMIM:618356
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Tongue fasciculations	OMIM:601596
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hydrocephalus, Orofacial cleft, Um...	ORPHA:77301
Mosaic Trisomy 1	Omphalocele, Thick lower lip vermilion, Cleft palate, Orofacial cleft, Short upper lip, Wide mout...	ORPHA:1692
Teebi-Shaltout Syndrome	High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Narrow mouth, Microphthalmia, Promine...	OMIM:272950
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Long philtrum	OMIM:615145
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Exstrophy-Epispadias Complex	Omphalocele, Anal stenosis, Inguinal hernia, Spina bifida, Hydrocephalus, Bladder exstrophy, Anal...	ORPHA:322
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Vater/Vacterl Association	Occipital encephalocele, Tethered cord, Spina bifida, Esophageal atresia, Tracheoesophageal fistu...	OMIM:192350
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Umbilical he...	OMIM:115470
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis	ORPHA:2221
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Orofaciodigital Syndrome Vi	Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ...	OMIM:277170
Meckel Syndrome, Type 1	Smooth philtrum, Thin upper lip vermilion, Natal tooth, Omphalocele, Occipital encephalocele, Int...	OMIM:249000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly	OMIM:253800
Fraser Syndrome	Omphalocele, Encephalocele, Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, Myelom...	ORPHA:2052
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue	ORPHA:2759
Contractures-Developmental Delay-Pierre Robin Syndrome	Inguinal hernia, High, narrow palate, Cleft palate, Glossoptosis, Syringomyelia	ORPHA:436003
Steinfeld Syndrome	Microphthalmia, Holoprosencephaly, Bifid uvula, Median cleft lip and palate	OMIM:184705
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Inguinal hernia, Deep philtrum, Umbilical hernia, Everted lower lip ver...	OMIM:613884
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili...	ORPHA:1358
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
2Q31.1 Microdeletion Syndrome	Inguinal hernia, Deep philtrum, Cleft palate, Downturned corners of mouth, Thin vermilion border,...	ORPHA:251014
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif...	OMIM:612109
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Tongue fasciculations	OMIM:620285
Lateral Meningocele Syndrome	Umbilical hernia, Meningocele, High palate, High, narrow palate	ORPHA:2789
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci...	ORPHA:464
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Orofacial cl...	ORPHA:568
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Curry-Jones Syndrome	Microphthalmia, Intestinal malrotation	ORPHA:1553
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Meningocele, High palate, Hepatic failure	ORPHA:46059
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Kapur-Toriello Syndrome	Microphthalmia, Intestinal malrotation, Cleft palate, Cleft upper lip	OMIM:244300
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth	OMIM:615065
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Short-Rib Thoracic Dysplasia 12	Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Intestinal malrotation, Hamartoma of...	OMIM:269860
Duane-Radial Ray Syndrome	Anal stenosis, Optic disc hypoplasia, Aganglionic megacolon, Microphthalmia, Spina bifida occulta...	OMIM:607323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:614643
Micro Syndrome	Microphthalmia, High palate, Short philtrum	ORPHA:2510
Hypoglossia-Hypodactyly Syndrome	Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Gastros...	ORPHA:989
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Abnormality of the dentition	ORPHA:1806
Frontofacionasal Dysplasia	Cleft upper lip, Orofacial cleft, Cranium bifidum occultum, Microphthalmia, Bifid uvula	OMIM:229400
Dubowitz Syndrome	Delayed eruption of teeth, Inguinal hernia, Carious teeth, Velopharyngeal insufficiency, Submucou...	OMIM:223370
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Abnormal dental enamel morphology, Ope...	ORPHA:534
Pallister-Hall Syndrome	Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Holoprosencephaly, Microphtha...	OMIM:146510
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele, Cleft palate, High palate, Umbilical hernia	OMIM:130720
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ...	ORPHA:2108
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Hydrocephalus	OMIM:613001
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Duodenal stenosis	ORPHA:2470
Tetraamelia Syndrome 2	Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate	OMIM:618021
Tetraamelia Syndrome 1	Cleft upper lip, Hydrocephalus, Cleft palate, Gastroschisis, Microphthalmia, Anal atresia	OMIM:273395
Autosomal Recessive Robinow Syndrome	Inguinal hernia, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentitio...	ORPHA:1507
Meckel Syndrome 14	Microphthalmia, Occipital encephalocele, Holoprosencephaly	OMIM:619879
Otopalatodigital Syndrome, Type Ii	Omphalocele, Spina bifida, Hydrocephalus, Cleft palate, Narrow mouth, Umbilical hernia	OMIM:304120
Congenital Disorder Of Glycosylation, Type Iig	Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ...	OMIM:611209
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Ritscher-Schinzel Syndrome 3	Microphthalmia, Thin upper lip vermilion	OMIM:619135
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Hypoplasia of teeth	OMIM:234050
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Tented upper lip vermilion, Narrow mouth, Deep philtrum, Large placenta, Spinal dysr...	ORPHA:96334
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Median cleft lip, Orofacial cleft, Holoprosencephaly, Microphthalmia	ORPHA:3186
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u...	ORPHA:2752
Galloway-Mowat Syndrome 3	Microphthalmia, Narrow mouth, High palate, Hiatus hernia	OMIM:617729
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, High palate	ORPHA:35173
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, Syringomye...	ORPHA:453499
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, High palate, ...	OMIM:603457
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Short philtrum	OMIM:610758
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Microphthalmia, Anal atresia	ORPHA:1352
Microphthalmia With Limb Anomalies	Macrodontia, Cleft upper lip, Hydrocephalus, Cleft palate, Thin vermilion border, High palate, Lo...	ORPHA:1106
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Acrofrontofacionasal Dysostosis 1	Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia	OMIM:201180
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Focal Dermal Hypoplasia	Delayed eruption of teeth, Omphalocele, Inguinal hernia, Anophthalmia, Intestinal malrotation, Cl...	OMIM:305600
Jacobsen Syndrome	Pyloric stenosis, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Microphthalmia, U-Shaped ...	OMIM:147791
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Triangular mouth, Intestinal obstruction, Malabsorption	OMIM:601675
Fanconi Anemia, Complementation Group L	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Microphthalmia, Anal ...	OMIM:614083
Atelis Syndrome 2	Diastema, Thick lower lip vermilion, Downturned corners of mouth, High palate, Microphthalmia	OMIM:620185
Galloway-Mowat Syndrome 1	Hiatus hernia, Wide mouth, Hypoplasia of the iris, High palate, Microphthalmia	OMIM:251300
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Lelis Syndrome	Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Refsum Disease	Microphthalmia	ORPHA:773
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate	ORPHA:2001
Hypoglossia-Hypodactylia	Microglossia, Aglossia, Narrow mouth	OMIM:103300
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoe...	ORPHA:2538
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Occipital encephalocele, Meningocele, Gastroesophageal reflux	ORPHA:397715
Au-Kline Syndrome	Lipomyelomeningocele, Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia...	OMIM:616580
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Optic n...	ORPHA:453504
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Optic n...	ORPHA:352665
Phocomelia, Schinzel Type	High, narrow palate, Meningocele, Tracheoesophageal fistula, Cleft palate, Anal atresia	ORPHA:2879
Arima Syndrome	Hepatomegaly, Esophageal varix, Hepatic fibrosis, Cirrhosis, Occipital meningocele, Hepatic steat...	OMIM:243910
Holzgreve Syndrome	Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate	ORPHA:2167
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perma...	OMIM:616894
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Glossoptosis, Cleft palate	ORPHA:440354
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Cleft palate, Anteriorly placed anus, Colonic atresia, Microphthalmia, Anal atresia	OMIM:309801
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations	OMIM:614153
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha...	ORPHA:2751
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis	OMIM:175500
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Psoriasis 14, Pustular	Geographic tongue, Furrowed tongue	OMIM:614204
Fryns Syndrome	Omphalocele, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cleft upp...	OMIM:229850
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations	ORPHA:276198
Mend Syndrome	Asymmetry of the mouth, Hydrocephalus, Cleft palate, High palate, Microphthalmia	ORPHA:401973
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Smooth philtrum	OMIM:300534
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Long philtrum	OMIM:615877
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Supernumerary tooth, Hypoplasia of teeth, Anteriorly placed anus, Agen...	OMIM:268400
Acrodermatitis Enteropathica	Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis	ORPHA:37
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Occipital meningocele	OMIM:616546
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Cleft palate, Colon cancer, Holoprosencephaly, Microphthalmia, Stomach canc...	ORPHA:1052
Orofaciodigital Syndrome Type 6	Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft palate, Lobulated tongue, Abnor...	ORPHA:2754
Incontinentia Pigmenti	Delayed eruption of teeth, Hypoplasia of the fovea, Conical tooth, Oligodontia, Hypodontia, Micro...	OMIM:308300
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Marshall-Smith Syndrome	Eclabion, Irregular dentition, Omphalocele, Optic nerve hypoplasia, Pyloric stenosis, Hydrocephal...	OMIM:602535
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy, Cervical spinal cord atrophy, Optic nerve hypoplasia	ORPHA:101085
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue...	ORPHA:2750
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Cleft palate, Short philtrum...	ORPHA:50
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Cleft lip, Cleft palate, Microphthalmi...	OMIM:617925
Oculo-Palato-Cerebral Syndrome	Microphthalmia, High, narrow palate, Cleft palate	ORPHA:2714
Hypomandibular Faciocranial Dysostosis	Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate, Narrow mouth	ORPHA:1790
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Microphthalmia, Smooth philtrum, ...	OMIM:616975
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Microphthalmia, Narrow philtrum, Thin vermilion border	OMIM:601812
Cowden Syndrome 5	Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth	OMIM:615108
Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Bifid uvula, Cleft palate	ORPHA:1427
X-Linked Agammaglobulinemia	Glossoptosis, Malabsorption	ORPHA:47
Tarp Syndrome	Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum	OMIM:311900
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Carious teeth, Downturned corners of mouth...	OMIM:620186
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Anophthalmia, Persistence of primary teeth, Supernumerary tooth, Submu...	OMIM:300166
Yunis-Varon Syndrome	Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Pyloric st...	ORPHA:3472
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Pyloric ste...	ORPHA:818
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Den...	OMIM:180700
Cowden Syndrome 6	Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth	OMIM:615109
Lymphedema-Distichiasis Syndrome	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:153400
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Everted lower lip ve...	ORPHA:570
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Dental crowding, Gingival ...	OMIM:268310
Autosomal Dominant Robinow Syndrome	Inguinal hernia, Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the ...	ORPHA:3107
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Agenesis of canine, Orofacial cleft, High palate, Holoprose...	ORPHA:141099
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia, Hydrocephalus, Cleft palate	ORPHA:137675
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ...	ORPHA:958
Robinow Syndrome	Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia...	ORPHA:97360
Holoprosencephaly 2	Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cleft lip and palate, Semilobar ...	OMIM:157170
Charcot-Marie-Tooth Disease Type 4B2	Buphthalmos, Difficulty in tongue movements, Tongue atrophy	ORPHA:99956
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis	OMIM:277380
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Delayed eruption of primary teeth	OMIM:300952
Fraser Syndrome 2	Intestinal malrotation, Rectal atresia, Narrow mouth, Microphthalmia, Anal atresia	OMIM:617666
Hydrolethalus Syndrome 1	Omphalocele, Median cleft lip, Anencephaly, Cleft palate, Severe hydrocephalus, Microphthalmia	OMIM:236680
Monosomy 9P	Abnormality of the dentition, Cleft palate, High palate, Narrow mouth, Microphthalmia, Long philtrum	ORPHA:261112
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, Microphthalmia	OMIM:206900
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Cleft upper lip, Hydrocephalus, Cleft palate, Wide mouth, ...	OMIM:164210
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Fanconi Anemia, Complementation Group D2	Microphthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula	OMIM:227646
Cockayne Syndrome B	Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hypoplasia of teeth, Hypop...	OMIM:133540
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Tongue fasciculations	OMIM:211530
Neuroocular Syndrome	Hypoplasia of the fovea, Short uvula, Submucous cleft hard palate, Lens coloboma, Downturned corn...	OMIM:619539
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia, Cleft palate, Cleft upper lip	OMIM:100300
Cowden Syndrome 1	Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth	OMIM:158350
Fanconi Anemia, Complementation Group F	Microphthalmia, Duodenal atresia	OMIM:603467
Carey-Fineman-Ziter Syndrome 1	Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Microglossia	OMIM:254940
Spondyloepiphyseal Dysplasia Congenita	Spinal cord compression, Glossoptosis, Cleft palate	ORPHA:94068
Myopathy, Myofibrillar, 7	Tongue atrophy	OMIM:617114
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, High palate, Bifid uvula, Dental malocclusion	OMIM:601552
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Aquedu...	ORPHA:138
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Rabson-Mendenhall Syndrome	Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia...	ORPHA:769
Orofaciodigital Syndrome Xiv	Natal tooth, Occipital encephalocele, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasi...	OMIM:615948
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at...	OMIM:613091
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Catel-Manzke Syndrome	Inguinal hernia, Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate,...	OMIM:616145
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Carious teeth, Cleft palate, Narrow mouth, Microdontia, Microphthalmia	OMIM:616734
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate	ORPHA:79284
Ramos-Arroyo Syndrome	Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Long philtrum	ORPHA:1051
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Inguinal hernia, Thin vermilion border, High palate, Microphthalmia, U-Shaped upper lip vermilion	OMIM:609945
Pachyonychia Congenita 3	Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue	OMIM:615726
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Bilateral microphthalmos, Lobar holoprosencephaly, Narrow mouth, Smooth p...	ORPHA:468631
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Trichothiodystrophy	Carious teeth, High, narrow palate, Bilateral microphthalmos, Umbilical hernia, Enamel hypoplasia	ORPHA:33364
Renpenning Syndrome 1	Thin upper lip vermilion, Macrodontia, Cleft palate, High palate, Short philtrum, Narrow mouth, M...	OMIM:309500
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Microdontia, Oral leukoplakia, Furrowed tongue	OMIM:148210
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microdontia, Microphthalmia, Thick vermilion border, Smooth philtrum	OMIM:620005
Myhre Syndrome	Thin upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Narrow mouth, Microphthalmia	OMIM:139210
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ...	OMIM:117650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia	OMIM:253280
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Thick vermilion border, Long philtrum	ORPHA:2526
Tarp Syndrome	Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum m...	ORPHA:2886
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Thin upper lip vermilion, Thick lower lip vermilion, Thin vermilion border, Widely spaced teeth, ...	OMIM:612474
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Atrophy of the spinal cord, Hydrocephalus, Stomatitis, Glossitis, Smooth philtrum	ORPHA:79282
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Abnormal dental enamel morphology, Hydrocephalus, Abnormal rectum morphology, Micro...	ORPHA:2556
Witteveen-Kolk Syndrome	Thin upper lip vermilion, Inguinal hernia, Branchial fistula, High, narrow palate, Thick lower li...	OMIM:613406
Treacher Collins Syndrome 1	Cleft soft palate, Bilateral microphthalmos, Cleft palate, Wide mouth, Abnormal parotid gland mor...	OMIM:154500
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Roberts Syndrome	Microphthalmia, High palate, Cleft palate, Cleft upper lip	ORPHA:3103
Microphthalmia, Syndromic 9	Inguinal hernia, Anophthalmia, Bilateral microphthalmos	OMIM:601186
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia, Aganglionic megacolon	ORPHA:959
Cockayne Syndrome	Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion...	ORPHA:191
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Monosomy 13Q14	Microphthalmia, Holoprosencephaly	ORPHA:1587
Knobloch Syndrome 1	Occipital meningocele, Occipital encephalocele, Spina bifida occulta, Pyloric stenosis	OMIM:267750
Pallister-Hall Syndrome	Natal tooth, Inguinal hernia, Accessory oral frenulum, Cleft lip, Cleft palate, Umbilical hernia,...	ORPHA:672
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis	ORPHA:35858
Stuve-Wiedemann Syndrome 1	Carious teeth, Pursed lips, Thin vermilion border, Smooth tongue	OMIM:601559
Charge Syndrome	Omphalocele, Anal stenosis, Anophthalmia, Cleft upper lip, Esophageal atresia, Tracheoesophageal ...	OMIM:214800
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Generalized Pustular Psoriasis	Geographic tongue, Cheilitis	ORPHA:247353
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thin upper lip vermilion, Inguinal hernia, Optic nerve hypoplasia, Bilateral micr...	ORPHA:508488
Cockayne Syndrome Type 3	Carious teeth, Microphthalmia, Enamel hypoplasia	ORPHA:90324
Giant Cell Arteritis	Glossitis	ORPHA:397
Mucoepithelial Dysplasia, Hereditary	Erythematous oral mucosa, Furrowed tongue	OMIM:158310
Charcot-Marie-Tooth Disease Type 4C	Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations	ORPHA:99949
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Marfan Syndrome	High, narrow palate, Meningocele, Cleft palate	ORPHA:558
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Atrophy of the spinal cord, Tongue atrophy	ORPHA:466768
Microphthalmia, Syndromic 6	Anophthalmia, Cleft palate, High palate, Microphthalmia, Microglossia, Bifid uvula	OMIM:607932
Branchiooculofacial Syndrome	Anophthalmia, Abnormality of the dentition, Malrotation of colon, Cleft upper lip, Lower lip pit,...	OMIM:113620
Stickler Syndrome	Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog...	ORPHA:828
Orofaciodigital Syndrome Type 14	Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle...	ORPHA:434179
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Smooth tongue, Oral mucosal blisters	ORPHA:79396
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Downturned corners of mouth, Glossoptosis, Macroglossia, High palate, L...	ORPHA:444077
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ...	OMIM:235730
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Bilateral microphthalmos, Persistence of primary teeth	ORPHA:93325
Distal Deletion 15Q	Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Bifid tongue	ORPHA:1596
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis	ORPHA:653
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Recta...	OMIM:309800
Roberts-Sc Phocomelia Syndrome	Cleft upper lip, Hydrocephalus, Frontal encephalocele, Cleft palate, High palate, Microphthalmia	OMIM:268300
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:2152
Cowden Syndrome	Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate	ORPHA:201
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261552
Viss Syndrome	Chronic gastritis, Inguinal hernia, Duodenitis, Intestinal malrotation, Cleft soft palate, Submuc...	OMIM:619472
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Hydrocephalus	OMIM:175780
Glucagonoma	Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea	ORPHA:97280
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Enamel hypoplasia	OMIM:309000
Norrie Disease	Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Thin vermilion border, Microphthalmia	ORPHA:649
Townes-Brocks Syndrome	Rectoperineal fistula, Anteriorly placed anus, Wide mouth, Rectovaginal fistula, Microphthalmia, ...	ORPHA:857
Kawasaki Disease	Glossitis, Cheilitis	ORPHA:2331
Microsporidiosis	Glossitis	ORPHA:2552
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele, High palate, Narrow palate	OMIM:276820
Stüve-Wiedemann Syndrome	Smooth tongue, Abnormality of the dentition	ORPHA:3206
Plague	Chapped lip, Inflammation of the large intestine, Glossitis, Enterocolitis	ORPHA:707
Carney Complex	Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho...	ORPHA:1359

Histopathology

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

There is no histopathology data for Shroom3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Shroom3.

No publications found that use IMPC mice or data for Shroom3.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Shroom3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Shroom3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Shroom3^em1(IMPC)Bay	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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