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Gene: Bnc2 MGI:2443805

Gene Summary

Name:

basonuclin zinc finger protein 2

Synonyms:

8430420F16Rik, 5031434M05Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased cornea thickness	Bnc2^{tm1b(KOMP)Wtsi}	HET	Early adult	9.64×10^-09
decreased exploration in new environment	Bnc2^{tm1b(KOMP)Wtsi}	HET	Early adult	1.28×10^-06
decreased fluid intake	Bnc2^{tm1b(KOMP)Wtsi}	HET	Early adult	9.68×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Bnc2 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 Bnc2 (2 diseases)
Human diseases predicted to be associated with Bnc2 (797 diseases)

The table below shows human diseases associated to Bnc2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Posterior Urethral Valve		Retrognathia	ORPHA:93110
Lower Urinary Tract Obstruction, Congenital			OMIM:618612

The table below shows human diseases predicted to be associated to Bnc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pierre Robin Syndrome	Micrognathia, Feeding difficulties in infancy, Pierre-Robin sequence, Cleft palate, Glossoptosis	OMIM:261800
Pierre Robin Sequence With Facial And Digital Anomalies	Frontal bossing, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxat...	OMIM:311895
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Hartsfield Syndrome	Median cleft lip, Craniosynostosis, Cleft upper lip, Microcephaly, Cleft palate, Agenesis of corp...	OMIM:615465
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Frontofacionasal Dysplasia	Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Malar flattening, Bifid uvula...	OMIM:229400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Aplasia/Hy...	ORPHA:306542
Isolated Exencephaly	Abnormal facial skeleton morphology, Abnormal calvaria morphology, Aplasia/Hypoplasia of the cere...	ORPHA:563612
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Nasogastric tube feeding in infancy, Temporomandibular joint ankylosis, Cleft palat...	ORPHA:141152
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl...	OMIM:614669
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ...	ORPHA:2521
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Adducted Thumbs Syndrome	Cerebral dysmyelination, Microcephaly, Craniosynostosis, High, narrow palate, Velopharyngeal insu...	OMIM:201550
Coffin-Siris Syndrome 11	Frontal bossing, Prominent metopic ridge, Cleft soft palate, Feeding difficulties in infancy, Eso...	OMIM:618779
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici...	ORPHA:99772
Craniosynostosis 2	Bicoronal synostosis, Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Trigono...	OMIM:604757
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Hypersexuality, Sweet cravin...	ORPHA:33543
Robin Sequence-Oligodactyly Syndrome	Glossoptosis, Micrognathia, Cleft palate, Abnormality of the dentition	ORPHA:3104
Lethal Osteosclerotic Bone Dysplasia	Micrognathia, Microcephaly, Large fontanelles, Gingival fibromatosis, Gingival overgrowth, Mandib...	ORPHA:1832
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Orofaciodigital Syndrome Type 5	Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral...	ORPHA:2919
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Peroxisome Biogenesis Disorder 7A (Zellweger)	Large posterior fontanelle, Death in infancy, Flat occiput, Wide anterior fontanel, Feeding diffi...	OMIM:614872
Lissencephaly, X-Linked, 2	Thin upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Wide anterior fontanel, ...	OMIM:300215
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Rhizomelic Syndrome	Wide anterior fontanel, Microcephaly, Hip dislocation, Micrognathia	OMIM:268250
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Micrognathia, Microcephaly, Wide anterior fontanel, Abnormality of the e...	ORPHA:3098
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t...	OMIM:620045
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Catel-Manzke Syndrome	Camptodactyly of finger, Micrognathia, Cleft palate, Glossoptosis, Malar flattening, Oral synechia	ORPHA:1388
Cataract-Intellectual Disability-Hypogonadism Syndrome	Micrognathia, Feeding difficulties in infancy, Microcephaly, Brachycephaly, Furrowed tongue, Ever...	ORPHA:1387
Chromosome 22Q11.2 Duplication Syndrome	Velopharyngeal insufficiency, Microcephaly, High palate, Micrognathia	OMIM:608363
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum, Malar flattening	ORPHA:166100
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Fe...	OMIM:620269
Hereditary Central Diabetes Insipidus	Irritability, Polydipsia	ORPHA:30925
Chromosome 16Q22 Deletion Syndrome	Frontal bossing, Prominent metopic ridge, Microcephaly, Micrognathia, Wide anterior fontanel, Hig...	OMIM:614541
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Microcephaly, High, narrow palate, Submucous cleft ha...	ORPHA:3201
Parietal Foramina 1	Cleft upper lip, Parietal foramina, Cleft palate, Macrocephaly, Wormian bones	OMIM:168500
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Wormian bones, Dental crowding, Megalencephaly, Carious teeth...	OMIM:269300
Peroxisome Biogenesis Disorder 8A (Zellweger)	Feeding difficulties in infancy, Glossoptosis, Death in infancy	OMIM:614876
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Wide anterior fontanel, Cleft palate, Everte...	OMIM:619736
Whistling Face Syndrome, Recessive Form	Micrognathia, Whistling appearance, Narrow mouth, Trismus, Elbow flexion contracture, Knee flexio...	OMIM:277720
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency, Nasal regurgitation, Dysphagia	OMIM:617732
Bartsocas-Papas Syndrome 2	Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Antecubital pterygium, Bilateral c...	OMIM:619339
Orofaciodigital Syndrome Xix	Frontal bossing, Cleft soft palate, Accessory oral frenulum, Dolichocephaly, Carious teeth, Retro...	OMIM:620107
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Distal 17P13.1 Microdeletion Syndrome	Flat occiput, Unilateral polymicrogyria, Limited elbow movement, Microcephaly, Hypoplasia of the ...	ORPHA:319171
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Frontal bossing, Cerebral calcification, Flat occiput, Micrognathia, H...	ORPHA:2780
Larsen-Like Syndrome	Joint dislocation, Frontal bossing, Wide anterior fontanel, Dental malocclusion, Brachycephaly, C...	OMIM:608545
Hypothyroidism, Congenital, Nongoitrous, 4	Macroglossia, Wide anterior fontanel, Feeding difficulties	OMIM:275100
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Leber Congenital Amaurosis 2	Keratoconus, Cataract, Eye poking	OMIM:204100
Amish Lethal Microcephaly	Death in infancy, Cerebellar vermis hypoplasia, Cleft soft palate, Micrognathia, Microcephaly, Fe...	ORPHA:99742
Isolated Childhood Apraxia Of Speech	Caudate atrophy, High, narrow palate, Submucous cleft hard palate, Feeding difficulties, Abnormal...	ORPHA:209908
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Cerebellar vermis hypoplasia, Camptodactyly of finger, Microcephaly, Hig...	OMIM:616920
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Micrognathia, Wide anterior fontanel, Abnormality of the elbow, Brachycephaly, C...	ORPHA:163649
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Craniosynostosis, Wide...	OMIM:601853
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Micrognathia, Wide anterior fontanel, High palate, Thin calvarium, Macr...	ORPHA:85184
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Knee flexion contracture, Tongue atrophy, Cerebral atrophy, Dysphagia	ORPHA:496689
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Relative macrocephaly, Congenital hip dislocation, Macroglossia, Const...	OMIM:614450
Robinow Syndrome, Autosomal Dominant 2	Thickened calvaria, Thin upper lip vermilion, Frontal bossing, Dental crowding, Cleft soft palate...	OMIM:616331
Athyreosis	Abdominal distention, Large fontanelles, Feeding difficulties, Macroglossia, Constipation	ORPHA:95713
Coffin-Siris Syndrome 6	Frontal bossing, Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Plagiocephaly, S...	OMIM:617808
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Microcephaly, Micrognathia, Cleft palate, Feeding difficulties, Glossoptosis, Small anterior font...	OMIM:618356
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Frontal bossing, Micrognathia, Wide anterior fontanel, Protuberant abdomen, Macrocephaly	OMIM:618272
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Cerebral calcification, Abnormal dental enamel morphology, A...	ORPHA:1798
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, Feeding difficulties in infancy, High palate, Shor...	OMIM:612292
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Frontal bossing, Abnormal dental morphology, Abnormal dental enamel m...	ORPHA:85199
Auriculocondylar Syndrome 3	Glossoptosis, Retrognathia, Bifid uvula, Micrognathia	OMIM:615706
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Frontal bossing, Genu recurvatum, Thick lower lip vermilion, Ge...	OMIM:300602
Central Diabetes Insipidus	Polydipsia, Anorexia, Depression	ORPHA:178029
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Eye poking	OMIM:613835
Volvulus Of Midgut	Frontal bossing, Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, C...	OMIM:193250
Thyroid Hemiagenesis	Large fontanelles, Macroglossia, Constipation, Abdominal distention	ORPHA:95719
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Frontal bossing, Congenital hip dislocation, Dolichocephaly, Pyloric st...	ORPHA:457279
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Eye poking	OMIM:204000
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Glossoptosis,...	ORPHA:1452
Pallister-Hall-Like Syndrome	Death in infancy, Median cleft lip, Microcephaly, Micrognathia, Hip dislocation, Cleft palate, Ma...	OMIM:241800
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia	OMIM:222100
Brachycephaly, Trichomegaly, And Developmental Delay	Flat occiput, Microcephaly, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip ver...	OMIM:617412
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios...	OMIM:241310
Multiple Epiphyseal Dysplasia, Lowry Type	Micrognathia, Cleft hard palate, Knee flexion contracture, Genu valgum, Fixed elbow flexion, Disl...	ORPHA:166016
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Popl...	OMIM:601492
Qazi-Markouizos Syndrome	High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Delayed oss...	ORPHA:3010
Hypoglossia With Situs Inversus	Micrognathia, Feeding difficulties in infancy, Malnutrition, High palate, Hypodontia, Narrow mout...	OMIM:612776
Cutis Laxa, Autosomal Recessive, Type Iia	Frontal bossing, Midface retrusion, Congenital hip dislocation, Microcephaly, Carious teeth, Narr...	OMIM:219200
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Elbow dislocation...	OMIM:613805
Robinow Syndrome, Autosomal Recessive 2	Relative macrocephaly, Frontal bossing, Cleft soft palate, Abnormality of the dentition, Microgna...	OMIM:618529
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ...	ORPHA:103907
Huntington Disease	Bradyphrenia, Oral-pharyngeal dysphagia, Aggressive behavior, Depression, Irritability, Addictive...	ORPHA:399
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Frontal bossing, Micrognathia, Pierre-Robin sequence, Feeding difficult...	OMIM:613604
Epilepsy, Progressive Myoclonic, 9	Microglossia, Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616540
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum	OMIM:618732
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the knee, Cleft soft palate, Micrognathia, Nasogastric tube feeding in infancy, Ge...	ORPHA:93316
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Macrocephaly, Death in infancy, Feeding difficulties	OMIM:618240
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Microcephaly, Submucous cleft hard palate, Bifid uvula, Feeding difficulties	OMIM:619239
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia	OMIM:248390
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Microcephaly, Submucous cleft hard palate, Feeding difficulti...	OMIM:618106
Pontocerebellar Hypoplasia, Type 1B	Tongue atrophy, Hip dislocation, Cerebral atrophy, Feeding difficulties, Tongue fasciculations, P...	OMIM:614678
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Hypomandibular Faciocranial Dysostosis	Death in infancy, Midface retrusion, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Brachyce...	ORPHA:1790
Leber Congenital Amaurosis 4	Keratoconus	OMIM:604393
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Joubert Syndrome 18	Trident pelvis, Agenesis of cerebellar vermis, Cleft palate, Lobulated tongue, Retrognathia, Agen...	OMIM:614815
Six2-Related Frontonasal Dysplasia	Frontal bossing, Absent/hypoplastic paranasal sinuses, Wide anterior fontanel, Premature posterio...	ORPHA:488437
8Q22.1 Microdeletion Syndrome	Camptodactyly of finger, Craniosynostosis, Microcephaly, Hypoplasia of the maxilla, Abnormality o...	ORPHA:178303
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Camptodactyly of finger, Craniosynostosis, Narrow mouth, Brachycep...	ORPHA:83
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Lissencephaly,...	OMIM:612938
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Frontal bossing, Reduced cerebral white matter volume, Megalencephaly, ...	OMIM:616638
Developmental And Speech Delay Due To Sox5 Deficiency	Exaggerated median tongue furrow, Vertebral fusion, Frontal bossing, Dental crowding, Narrow pala...	ORPHA:313892
Hartnup Disorder	Glossitis	OMIM:234500
Faciocardiomelic Dysplasia, Lethal	Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia	OMIM:227270
Orofaciodigital Syndrome V	Thin upper lip vermilion, Frontal bossing, Median cleft lip, Aganglionic megacolon, Hamartoma of ...	OMIM:174300
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Frontal bossing, Delayed ...	OMIM:607812
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Flat occiput, Protruding tongue, Cessation of head growth, Feeding difficu...	ORPHA:411511
Brachydactyly, Type B1	Vertebral fusion, Wide anterior fontanel, Delayed eruption of permanent teeth, Joint contracture ...	OMIM:113000
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Porencephalic...	OMIM:252100
Marshall Syndrome	Thickened calvaria, Frontal bossing, Cerebral calcification, Abnormality of the dentition, Microg...	ORPHA:560
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Flat occiput, Microcephaly, Abnormal zygomatic bone morphology, Large font...	ORPHA:2511
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Feeding difficul...	ORPHA:2712
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Craniosynostosis 6	Bicoronal synostosis, Turricephaly, Delayed cranial suture closure, Craniosynostosis, Microcephal...	OMIM:616602
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Midface retrusion, Micrognathia, High palate, Narrow mouth, Wormian bo...	OMIM:613849
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Tarsal synostosis, Abnormality of the wrist, Hypoplasia of the maxilla, Cleft ...	ORPHA:1307
Opitz Gbbb Syndrome	Thin upper lip vermilion, Frontal bossing, Cerebellar vermis hypoplasia, Cleft upper lip, Rectour...	OMIM:300000
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Protruding tongue, Cessation of head growth, Feeding difficulties, Wide mo...	ORPHA:98795
Acrocallosal Syndrome	Wide anterior fontanel, Aplasia/Hypoplasia of the corpus callosum, Prominent occiput, Macrocephal...	ORPHA:36
Marden-Walker Syndrome	Micrognathia, Microcephaly, High, narrow palate, Pyloric stenosis, Wide anterior fontanel, Cleft ...	OMIM:248700
Hydrolethalus	Absent septum pellucidum, Micrognathia, Submucous cleft hard palate, Anencephaly, Cleft palate, G...	ORPHA:2189
Seckel Syndrome 2	Microcephaly, Micrognathia, Cerebellar hypoplasia, Microdontia, Microglossia	OMIM:606744
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost...	ORPHA:353253
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti...	OMIM:613662
Acrofrontofacionasal Dysostosis 2	Wide anterior fontanel, High palate, Brachycephaly, Microcephaly	OMIM:239710
Bardet-Biedl Syndrome 9	Polydipsia, Astigmatism, Polyphagia, Cataract	OMIM:615986
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Porencephalic cyst, Cleft palate, Cer...	OMIM:258860
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Intestinal malrotation, Microcephaly, Velopharyngeal insufficiency, Sub...	OMIM:614701
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Microcephaly, Wide anterior fontanel, Cerebral atrophy, Feeding difficulties, T...	OMIM:609180
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia	OMIM:614526
Cole-Carpenter Syndrome 2	Microretrognathia, Frontal bossing, Wide cranial sutures, Midface retrusion, Turricephaly, High p...	OMIM:616294
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Feeding difficulties, Downturned corners of mouth, Lobulated tongue, Ab...	OMIM:613443
Lipoid Proteinosis	Cerebral calcification, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower ...	ORPHA:530
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Agenesis of corp...	OMIM:200990
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Primary microcephaly, Cerebra...	OMIM:620183
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Tongue fasciculations, Dysphagia	OMIM:613435
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Exaggerate...	OMIM:608670
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Limitation of movement at ankles, Flat occiput, Protruding tongue, Cessati...	ORPHA:98794
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
9q subtelomeric deletion syndrome	Microcephaly, Midface retrusion, Protruding tongue	DECIPHER:52
Grant Syndrome	Joint dislocation, Frontal bossing, Micrognathia, Open bite, Large fontanelles, Brachycephaly, Wo...	ORPHA:2097
Ritscher-Schinzel Syndrome 2	Relative macrocephaly, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Wide a...	OMIM:300963
Van Maldergem Syndrome 1	Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Micrognathia, Hypoplasia o...	OMIM:601390
Hypoglossia-Hypodactyly Syndrome	Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding diffic...	ORPHA:989
Angelman Syndrome	Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Feeding diffic...	OMIM:105830
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Cerebral calcification, Micrognathia, Carious teeth, Supernumerary tooth, Hypoplasia of the zygom...	ORPHA:3145
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Cerebrocostomandibular Syndrome	Anal stenosis, Congenital hip dislocation, Cleft soft palate, Micrognathia, Carious teeth, Cleft ...	OMIM:117650
Cree Mental Retardation Syndrome	Brachycephaly, Large fontanelles, Cleft soft palate, Micrognathia	OMIM:606851
Zellweger Syndrome	Death in infancy, Flat occiput, Micrognathia, Malabsorption, Pyloric stenosis, Wide anterior font...	ORPHA:912
Schilbach-Rott Syndrome	Microcephaly, Micrognathia, Submucous cleft hard palate, Narrow mouth, Bifid uvula	OMIM:164220
Rhizomelic Chondrodysplasia Punctata, Type 2	Optic nerve hypoplasia, Microcephaly, Micrognathia, Submucous cleft hard palate, Large fontanelle...	OMIM:222765
Acrofacial Dysostosis Syndrome Of Rodriguez	Micrognathia, Wide anterior fontanel, High palate, Short philtrum, Narrow mouth	OMIM:201170
Orofaciodigital Syndrome Xv	Lobulated tongue, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Midline notch of upp...	OMIM:617127
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s...	OMIM:300048
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Pycnodysostosis	Frontal bossing, Persistent open anterior fontanelle, Delayed eruption of primary teeth, Persiste...	OMIM:265800
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ...	ORPHA:2409
Neonatal Adrenoleukodystrophy	Wide anterior fontanel, Dolichocephaly, Abnormal palate morphology, Macrocephaly	ORPHA:44
Meckel Syndrome, Type 8	Abdominal distention, Microcephaly, Cleft palate, Cleft upper lip	OMIM:613885
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Periventricular leukomalacia, Cleft soft palate, Abnormal caudate nucleus morphology, Short philt...	ORPHA:293725
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology, Nausea	ORPHA:97230
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Microcephaly, Cleft palate, Furrowed tongue, Cerebral atrophy, High p...	OMIM:616449
Pfeiffer Syndrome	Mandibular prognathia, Turricephaly, Hypoplasia of the zygomatic bone, High palate, Short philtru...	ORPHA:710
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Microcephaly, Platybasia, Decreased calvarial ossification, Stillbirth, Wormian bones	OMIM:259410
Osteogenesis Imperfecta, Type Iii	Frontal bossing, Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Platybasia, Decreased...	OMIM:259420
Desmosterolosis	Frontal bossing, Intestinal malrotation, Absent septum pellucidum, Micrognathia, Pachygyria, Abno...	ORPHA:35107
Acquired Central Diabetes Insipidus	Polydipsia	ORPHA:95626
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ...	OMIM:619445
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Autosomal Recessive Cutis Laxa Type 2A	Frontal bossing, Thick cerebral cortex, Cerebellar vermis hypoplasia, Persistent open anterior fo...	ORPHA:357058
Carey-Fineman-Ziter Syndrome	Cerebral calcification, Aplasia/Hypoplasia of the tongue, Micrognathia, Microcephaly, Pierre-Robi...	ORPHA:1358
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee fl...	OMIM:615065
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif...	ORPHA:1201
Acrofacial Dysostosis, Catania Type	Smooth philtrum, Microretrognathia, Abnormality of the dentition, Carious teeth, Feeding difficul...	ORPHA:1786
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Microcephaly, Wide ante...	OMIM:614886
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Dandy-Walker malformation, Relative macrocephaly, Hamartoma of to...	OMIM:616300
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Dysphagia	ORPHA:216873
Cronkhite-Canada Syndrome	Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Hypogeusia, Furrowed ton...	ORPHA:2930
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Wide anterior fontanel, Frontal bossing, Death in infancy, Death in childhood	OMIM:619064
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Brachycephaly, Narrow palate, Ag...	OMIM:618644
Sweeney-Cox Syndrome	Prominent metopic ridge, Flat occiput, Midface retrusion, Micrognathia, Wide anterior fontanel, V...	OMIM:617746
Raine Syndrome	Mandibular prognathia, Cerebral calcification, Micrognathia, Brachycephaly, High palate, Neonatal...	OMIM:259775
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Abnormal tongue morphology, Gastrointestinal dysmotility, Aplasia/Hypoplasia of...	ORPHA:531151
Achondrogenesis Type 1A	Frontal bossing, Micrognathia, Abdominal distention, Macrocephaly, Long philtrum	ORPHA:93299
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Abnormal soft palate morpho...	ORPHA:884
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial ag...	OMIM:619103
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Wide cranial sutures, Frontal bossing, Scaphocephaly, Dental malocclusi...	OMIM:619149
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Nager Syndrome	Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla...	ORPHA:245
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus...	OMIM:615582
Marchiafava-Bignami Disease	Confusion, Aggressive behavior, Depression, Dementia, Abnormal emotion, Addictive alcohol use, Co...	ORPHA:221074
Peroxisome Biogenesis Disorder 3A (Zellweger)	Feeding difficulties in infancy, Wide anterior fontanel, Poor suck	OMIM:614859
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Frontal bossing, Hypoplasia of the zygomatic bone, Long philtrum	ORPHA:3074
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, C...	OMIM:114300
Cdags Syndrome	Frontal bossing, Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula...	OMIM:603116
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Frontal bossing, Micrognathia, Cleft palate, Glossoptosis, Midface retrusion	ORPHA:440354
Anauxetic Dysplasia 3	Wide anterior fontanel, Feeding difficulties, Genu valgum, Plagiocephaly, Oligodontia, Gastroesop...	OMIM:618853
Cleidocranial Dysplasia 2	Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera...	OMIM:620099
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Turricephaly, Cloverleaf skull, Craniosynostosis, Dolichocephaly, Cleft palate, Narrow palate, An...	ORPHA:1555
Mulibrey Nanism	Frontal bossing, Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental mal...	OMIM:253250
Deafness-Craniofacial Syndrome	Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tong...	ORPHA:3241
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Micrognathia, High, ...	ORPHA:193
Peroxisome Biogenesis Disorder 11A (Zellweger)	Wide anterior fontanel, Large fontanelles, Lissencephaly, Decreased liver function, Polymicrogyria	OMIM:614883
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Wide anterior fontanel, Cerebral calcification, Midface retrusion, Feeding difficulties	OMIM:617241
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Wide anterior fontanel, Macrocephaly	OMIM:601356
Fibrochondrogenesis 1	Frontal bossing, Wide anterior fontanel, Narrow mouth, Cleft palate, Widely patent coronal suture...	OMIM:228520
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Microcephaly, Carious teeth, Downturned corners of mouth, Hypoplasia of th...	ORPHA:1110
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Microcephaly, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta, Tracheoesoph...	OMIM:619227
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy, Dysphagia	OMIM:158900
Achondrogenesis, Type Ii	Microretrognathia, Frontal bossing, Brachycephaly, Cleft palate, Stillbirth, Protuberant abdomen,...	OMIM:200610
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Widely patent fontanelles and sutures, Micrognathia, Protruding tongue, High, narro...	OMIM:214100
Gillessen-Kaesbach-Nishimura Syndrome	Microcephaly, Micrognathia, Wide anterior fontanel, Brachycephaly, Retrognathia, Smooth philtrum	OMIM:263210
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Lethal Kniest-Like Dysplasia	Wide anterior fontanel, Protuberant abdomen, Cleft palate, Macrocephaly	ORPHA:2347
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Osteoarthritis, Submucous cleft hard palate, Pierre-Robin sequence, Cl...	OMIM:108300
Orofaciodigital Syndrome Type 10	Cleft soft palate, Accessory oral frenulum, Micrognathia, Tarsal synostosis, Long philtrum, Metat...	ORPHA:2756
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Plummer-Vinson Syndrome	Tongue atrophy, Poor appetite, Abdominal pain, Intra-oral hyperpigmentation, Cheilitis, Dysphagia...	ORPHA:54028
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, Probst bundles, Frontal bossing, Dolichocephaly, High, narrow palate, S...	OMIM:612863
Neu-Laxova Syndrome	Cerebral calcification, Micrognathia, Pterygium, Pachygyria, Bifid uvula, Dandy-Walker malformati...	ORPHA:2671
Agnathia-Otocephaly Complex	Micrognathia, Aglossia, Cleft palate, Narrow mouth, Mandibular aplasia, Microglossia, Agenesis of...	OMIM:202650
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia	OMIM:618021
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Vertebral Hypersegmentation And Orofacial Anomalies	Micrognathia, Submucous cleft hard palate, Prominent occiput, Unilateral cleft lip, Unilateral cl...	OMIM:619122
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Branchiogenic-Deafness Syndrome	Branchial cyst, Trismus, Submucous cleft hard palate, Branchial fistula	OMIM:609166
Toluene Embryopathy	Micrognathia, Microcephaly, Thin vermilion border, Hypoplasia of the zygomatic bone, Biparietal n...	ORPHA:1920
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Retinitis Pigmentosa	Keratoconus, Cataract	ORPHA:791
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Thin upper lip vermilion, Death in infancy, Cerebellar vermis hypoplasia, ...	OMIM:619135
Carey-Fineman-Ziter Syndrome 1	Micrognathia, Microcephaly, Trismus, Pierre-Robin sequence, Bowel irritability, Cleft palate, Fee...	OMIM:254940
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abno...	ORPHA:1752
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani...	ORPHA:364577
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the cerebellum, Feeding...	ORPHA:1812
Opitz-Kaveggia Syndrome	Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Anteriorly placed anus, C...	OMIM:305450
Brittle Cornea Syndrome	Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness	ORPHA:90354
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Microcephaly...	OMIM:610253
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Tarp Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Large fontanelles, Cleft palate, Tongue nodules, Glos...	OMIM:311900
Developmental And Epileptic Encephalopathy 80	Death in infancy, Tented upper lip vermilion, Protruding tongue, Micrognathia, Feeding difficulti...	OMIM:618580
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Familial Cold Urticaria	Polydipsia, Conjunctivitis	ORPHA:47045
Cutis Laxa, Autosomal Recessive, Type Iib	Frontal bossing, Congenital hip dislocation, Microcephaly, Large fontanelles, Gastroesophageal re...	OMIM:612940
X-Linked Mandibulofacial Dysostosis	Microcephaly, Micrognathia, Branchial anomaly, Hypoplasia of the zygomatic bone, High palate	ORPHA:1131
Marbach-Rustad Progeroid Syndrome	Wormian bones, Delayed eruption of primary teeth, Micrognathia, Poor appetite, Microcephaly, Erup...	OMIM:619322
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Abdominal distention, Diarrhea, Large fontanelles, Protein-losing enteropathy, ...	OMIM:608104
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Microcephaly, Bilateral cleft lip and palate, High palate, Macrocephaly...	OMIM:618874
Congenital Disorder Of Glycosylation, Type Iig	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Micrognathia, Feeding difficulties in inf...	OMIM:611209
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Mandibular prognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, M...	OMIM:613603
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Diastema, Hypoplasia of the maxill...	OMIM:300534
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit...	ORPHA:2753
Donnai-Barrow Syndrome	Wide anterior fontanel, Macrocephaly, Intestinal malrotation, Aplasia/Hypoplasia of the corpus ca...	ORPHA:2143
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest...	ORPHA:352665
Toriello-Carey Syndrome	Aganglionic megacolon, Micrognathia, Feeding difficulties in infancy, Wide anterior fontanel, Par...	ORPHA:3338
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactivit...	ORPHA:401777
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Flat occiput, Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Bifid tongue	ORPHA:2001
W Syndrome	Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary central incisor, Cubitus va...	ORPHA:2804
Shprintzen-Goldberg Craniosynostosis Syndrome	Frontal bossing, Genu recurvatum, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Wide...	OMIM:182212
Microcephaly 26, Primary, Autosomal Dominant	Protruding tongue, Microcephaly, Dysplastic corpus callosum, Gingival overgrowth, Simplified gyra...	OMIM:619179
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large posterior fontanelle, Feeding difficulties in infancy, Abdominal distention, Macroglossia, ...	ORPHA:226313
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Frontal bossing, Delayed eruption ...	ORPHA:763
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Feeding difficulties in infancy, Macroglossia, Constipation, Delayed ...	ORPHA:95717
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Prominent metopic ridge, Craniosynostosis, Microcephaly, Nasogastric tube feeding in infancy, Gas...	ORPHA:453499
Arthrogryposis, Distal, Type 5	Keratoconus, Keratoglobus, Astigmatism	OMIM:108145
Flat Face-Microstomia-Ear Anomaly Syndrome	Abnormal oral mucosa morphology, Camptodactyly of finger, Micrognathia, High, narrow palate, Narr...	ORPHA:1968
Van Maldergem Syndrome 2	Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Micrognathia, Hypoplasia o...	OMIM:615546
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	ORPHA:2554
Microtriplication 11Q24.1	Keratoconus, Bruxism	ORPHA:289522
Nephronophthisis-Like Nephropathy 2	Polydipsia	OMIM:619468
Mpdu1-Cdg	Wide anterior fontanel, Prominent frontal sinuses, Feeding difficulties, Thin vermilion border, P...	ORPHA:79323
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Death in infancy, Flat occiput, Micrognathia, Abdominal distention, Alv...	OMIM:235255
Dubowitz Syndrome	Delayed eruption of teeth, Anal stenosis, Craniosynostosis, Abnormality of the dentition, Malabso...	ORPHA:235
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Micrognathia, Microcephaly, Wide anterior fontanel, Pierre-Robin sequence, Cleft palate, Anterior...	OMIM:217980
Orofaciodigital Syndrome I	Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia...	OMIM:311200
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Polymicrogyria, Submucous cle...	ORPHA:899
Congenital Pancreatic Cyst	Abdominal distention, Vomiting, Anorexia, Abdominal pain	ORPHA:313906
Cerebrocostomandibular Syndrome	Death in infancy, Cerebral calcification, Micrognathia, Microcephaly, Porencephalic cyst, Cleft p...	ORPHA:1393
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Furrowed tongue	ORPHA:2928
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Large fontanelles, Genu valgum, Hypoplasia of the zygomatic bone, Cubitus ...	ORPHA:1778
Orofaciodigital Syndrome Type 6	Frontal bossing, Cerebellar vermis hypoplasia, Hamartoma of tongue, Micrognathia, Feeding difficu...	ORPHA:2754
Acquired Hypertrichosis Lanuginosa	Macroglossia, Chronic diarrhea, Glossitis, Poor appetite	ORPHA:2221
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Branchial fist...	ORPHA:861
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Frontal bossing, Wide cranial sutures, Dental crowding, Micrognathia, ...	OMIM:257850
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin...	ORPHA:298
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Sialuria	Thin upper lip vermilion, Frontal bossing, Macrocephaly, Macroglossia, High palate, Protuberant a...	OMIM:269921
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th...	ORPHA:3253
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Craniosynostosis, Abnormality of the dentition, C...	ORPHA:1299
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Furrowed ...	OMIM:615108
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly...	ORPHA:160148
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Brachycephaly, Agenesis of corpus callosum, Bifid ...	OMIM:101200
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Brachycephaly, Downturned corners of m...	OMIM:619950
Leber Congenital Amaurosis 9	Keratoconus, Eye poking	OMIM:608553
Cardiofaciocutaneous Syndrome 1	Micrognathia, Feeding difficulties in infancy, Deep philtrum, High palate, Vomiting, Gastroesopha...	OMIM:115150
Adiposis Dolorosa	Abdominal distention, Constipation	OMIM:103200
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Dela...	ORPHA:2457
Familial Visceral Myopathy	Aganglionic megacolon, Camptodactyly of finger, Microcephaly, Micrognathia, Abdominal distention,...	ORPHA:2604
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Microcephaly, Micrognathia, Feeding difficulties, Submucous cleft soft palate	ORPHA:2282
Holoprosencephaly 7	Bilateral cleft palate, Midface retrusion, Median cleft lip, Flat occiput, Bilateral cleft lip, H...	OMIM:610828
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Dolichocephaly, Carious teeth, Flat acetabular roof, Thick vermilion border, Widely spaced teeth,...	OMIM:617102
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Irritability, Polydipsia	OMIM:125800
Buratti-Harel Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, Gastroesophageal reflux, High palate, ...	OMIM:619314
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Irritability, Polydipsia	OMIM:304800
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Native American Myopathy	Micrognathia, Cleft palate, Feeding difficulties, Downturned corners of mouth, High palate, Gastr...	ORPHA:168572
Schneckenbecken Dysplasia	Advanced ossification of carpal bones, Flat acetabular roof, Cleft palate, Stillbirth, Protuberan...	OMIM:269250
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Agenesis of corpus callosum, Dandy-Walker malformati...	ORPHA:2750
Tetrasomy 5P	Pericallosal lipoma, Micrognathia, Wide anterior fontanel, Macrocephaly, High palate, Cerebellar ...	ORPHA:3309
Holzgreve Syndrome	Turricephaly, Aplasia/Hypoplasia of the tongue, Cleft palate, Aplasia/Hypoplasia of the corpus ca...	ORPHA:2167
1Q41Q42 Microdeletion Syndrome	Frontal bossing, Submucous cleft hard palate, Thick vermilion border, Cleft palate	ORPHA:250999
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis, Delayed ossification of carpal bones, Micrognathia	ORPHA:93346
White-Sutton Syndrome	Mandibular prognathia, Wormian bones, Optic nerve hypoplasia, Micrognathia, Microcephaly, Brachyc...	OMIM:616364
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Microcephaly, Submucous cleft hard palate, Downturned corners of mouth,...	OMIM:619680
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Malabsorption, Micrognathia, Protruding tongue, Diarrhea, Macroglossia, Malar flattening	OMIM:242860
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Long philtrum, Dislocated radial head,...	OMIM:268310
Pediatric-Onset Graves Disease	Hyperactivity, Keratitis, Irritability, Emotional lability, Polydipsia, Polyphagia	ORPHA:525731
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Frontal bossing, Micrognathia, Feeding difficulties, Thin calvarium, Midface retrusion, Delayed c...	ORPHA:1129
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Hypoplasia of the z...	OMIM:613717
Frontorhiny	Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinu...	ORPHA:391474
Lelis Syndrome	Mandibular prognathia, Carious teeth, Furrowed tongue, Hypodontia, Midface retrusion	ORPHA:140936
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Furrowed ...	OMIM:615109
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, High, n...	ORPHA:464738
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Relative macrocephaly, Thickened calvaria, Frontal bossing, Dental crowding, High, narrow palate,...	OMIM:300967
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Frontal open bite, Micrognathia, Delayed closure of the anterior fontanelle, Wide anterior fontan...	OMIM:225410
Zttk Syndrome	Hypoplasia of the maxilla, Feeding difficulties in infancy, Downturned corners of mouth, High pal...	OMIM:617140
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist...	OMIM:270420
Thyroid Hypoplasia	Large fontanelles, Macroglossia, Constipation, Abdominal distention	ORPHA:95720
Ring Chromosome 22 Syndrome	Absent septum pellucidum, Microcephaly, Protruding tongue, Thick vermilion border, Dolichocephaly...	ORPHA:1446
Kleefstra Syndrome Due To 9Q34 Microdeletion	Flat occiput, Absent septum pellucidum, Protruding tongue, Microcephaly, Brachycephaly, Feeding d...	ORPHA:96147
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Abnormal carpal morphology, Cleft palate, Malar flattening, Genu varum	ORPHA:85166
Contractures-Developmental Delay-Pierre Robin Syndrome	Micrognathia, High, narrow palate, Cleft palate, Glossoptosis, Radioulnar synostosis, Abnormality...	ORPHA:436003
Holoprosencephaly 9	Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,...	OMIM:610829
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Macrodontia, Protruding tongue, Diastema, Microcephaly, Gingival overgrowt...	OMIM:212066
Tenorio Syndrome	Mandibular prognathia, Wide mouth, Macroglossia, Gastroesophageal reflux, Recurrent aphthous stom...	OMIM:616260
3Mc Syndrome 1	Dental crowding, Cleft upper lip, Microcephaly, Cleft lip, Wide anterior fontanel, Cleft palate, ...	OMIM:257920
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent septum pellucidum, Microcephaly, Prominent occiput, Hypoplasia of the zygomatic bone, High...	OMIM:618500
Hypoglossia-Hypodactylia	Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Kinsship Syndrome	Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Micrognathia, Microcephaly, Th...	OMIM:619297
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Relative macrocephaly, Frontal bossing, Abnormality of the dentition, Micr...	OMIM:151050
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Protruding tongue, Gingival overgrowth, Cerebral atrophy, Brachycephaly, Wide mouth...	OMIM:618797
Turnpenny-Fry Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Feeding difficulties in inf...	OMIM:618371
Au-Kline Syndrome	Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis, Dental malocclusion, Retrog...	OMIM:616580
Moebius Syndrome	Death in infancy, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding difficulties in infancy...	ORPHA:570
Marshall-Smith Syndrome	Craniosynostosis, Protruding tongue, Gingival overgrowth, Cerebellar hypoplasia, Open mouth, Retr...	ORPHA:561
Angelman Syndrome	Keratoconus, Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Astig...	ORPHA:72
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption	OMIM:606824
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Thickened calvaria, Abnormal dental enamel morphology, Absent septum pellu...	ORPHA:2658
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Malar flattening, Hypoplasia of the zygomatic bone, Macrocephaly	ORPHA:2835
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention...	ORPHA:92050
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Osteoarthritis, Abnormal joint morphology, Cleft palate, Glossopto...	ORPHA:1427
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche...	OMIM:175500
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Large posterior fontanelle, Frontal bossing, Esophageal diverticulum, Hamartoma of t...	OMIM:617925
Hereditary Folate Malabsorption	Nausea and vomiting, Cerebral calcification, Anorexia, Diarrhea, Cheilitis, Gastroesophageal refl...	ORPHA:90045
Down Syndrome	Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion...	ORPHA:870
Neu-Laxova Syndrome 2	Micrognathia, Microcephaly, Cleft palate, Lissencephaly, High palate, Protuberant abdomen, Cerebe...	OMIM:616038
Otopalatodigital Syndrome Type 2	Thickened calvaria, Tarsal synostosis, Camptodactyly of finger, Micrognathia, Elbow dislocation, ...	ORPHA:90652
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Protruding tongue, Micrognathia, Cerebral atrophy, Feeding difficulties, Progre...	OMIM:608779
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Protruding tongue, Microcephaly, Cerebral atrophy, Feeding difficulties, E...	OMIM:617804
Achondrogenesis, Type Ib	Malar flattening, Stillbirth, Abdominal distention	OMIM:600972
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Protruding tongue, Gingival overgrowth, Feeding difficultie...	OMIM:620352
Cole-Carpenter Syndrome 1	Frontal bossing, Wormian bones, Micrognathia, Midface retrusion, Microdontia, Coronal craniosynos...	OMIM:112240
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Micrognathia, Hip dislocation, Tracheoesophageal fistula, Orofa...	ORPHA:958
Hallermann-Streiff Syndrome	Natal tooth, Frontal bossing, Abnormality of the dentition, Micrognathia, High, narrow palate, Su...	ORPHA:2108
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Wide anterior fontanel, Humeroradial synostosis, Brachycephaly, Lambdoidal crani...	OMIM:207410
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Microcephaly, Subm...	OMIM:301043
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Midface retrusion, Hypoplasia of the maxilla, S...	ORPHA:2588
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Microglossia, Narrow mouth	ORPHA:1972
Orofaciodigital Syndrome Type 3	Irregular dentition, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentit...	ORPHA:2752
Cystinosis	Polydipsia, Abnormal repetitive mannerisms, Corneal opacity	ORPHA:213
Spondylocostal Dysostosis 1, Autosomal Recessive	Death in infancy, Vertebral fusion, Block vertebrae, Abdominal distention, Protuberant abdomen	OMIM:277300
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Micrognathia, Pachygyria, Microcephaly, Large fontanelles, Osteochondros...	ORPHA:2995
Teratoma, Pineal	Polydipsia	OMIM:273120
Opitz Gbbb Syndrome	Micrognathia, Feeding difficulties in infancy, High palate, Agenesis of corpus callosum, Dandy-Wa...	ORPHA:2745
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Parietal...	OMIM:234100
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased corneal thickness	ORPHA:293967
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Ramos-Arroyo Syndrome	Frontal bossing, Aganglionic megacolon, Carious teeth, Feeding difficulties in infancy, Xerostomi...	ORPHA:1051
Restrictive Dermopathy 2	Microretrognathia, Rectal prolapse, Hypoplastic facial bones, Feeding difficulties, Gastroesophag...	OMIM:619793
D-Bifunctional Protein Deficiency	Frontal bossing, Delayed cranial suture closure, Cerebral dysmyelination, Micrognathia, Feeding d...	OMIM:261515
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Dental crowding, Micrognathia, Hypoplasia of teeth, High palate, Narrow...	OMIM:608612
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Hip contracture, Deep philtrum, Submucous cleft hard palate, Thin lower...	OMIM:619194
Meier-Gorlin Syndrome 7	Anal stenosis, Sagittal craniosynostosis, Craniosynostosis, Aplasia/Hypoplasia of the patella, Wi...	OMIM:617063
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Protruding tongue, Diastema, Absent frontal sinuses, Microcephaly, Thick l...	OMIM:301040
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Progressive macrocephaly, Hemimegal...	OMIM:158350
Marshall-Smith Syndrome	Irregular dentition, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate, Death in ...	OMIM:602535
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Fibrochondrogenesis	Camptodactyly of finger, Wide anterior fontanel, Cleft palate, Plagiocephaly, Narrow mouth	ORPHA:2021
Combined Oxidative Phosphorylation Deficiency 53	Death in infancy, Abdominal distention, Dysplastic corpus callosum, Arthritis, Secondary microcep...	OMIM:619423
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Dental crowding, Microgna...	OMIM:300990
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Velocardiofacial Syndrome	Microcephaly, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, C...	OMIM:192430
Cole-Carpenter Syndrome	Delayed eruption of teeth, Frontal bossing, Turricephaly, Abnormal dental enamel morphology, Micr...	ORPHA:2050
Gapo Syndrome	Frontal bossing, Delayed closure of the anterior fontanelle, Micrognathia, High, narrow palate, W...	OMIM:230740
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention, Hip dislocation, Thin corpus callosum, Flat acetabular roof	OMIM:619345
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Micr...	OMIM:277170
Orofaciodigital Syndrome Type 14	Microretrognathia, Accessory oral frenulum, Hamartoma of tongue, Microcephaly, Supernumerary toot...	ORPHA:434179
Trisomy 10P	Abnormal hip joint morphology, Wide cranial sutures, Frontal bossing, Periventricular white matte...	ORPHA:171929
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, H...	OMIM:119600
Dubowitz Syndrome	Delayed eruption of teeth, Micrognathia, Carious teeth, Feeding difficulties in infancy, Velophar...	OMIM:223370
Acrodermatitis Enteropathica	Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Cheilitis, Abnormality of the tongue, F...	ORPHA:37
Icf Syndrome	Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Macrocephaly	ORPHA:2268
Cardiofaciocutaneous Syndrome	Frontal bossing, Feeding difficulties in infancy, Submucous cleft hard palate, Functional abnorma...	ORPHA:1340
Robinow Syndrome, Autosomal Dominant 3	Frontal bossing, Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate,...	OMIM:616894
Microphthalmia With Limb Anomalies	Death in infancy, Frontal bossing, Macrodontia, Hypoplasia of the premaxilla, Tarsal synostosis, ...	ORPHA:1106
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,...	OMIM:218600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Feeding difficulties in infancy, Gastrointestinal dysmotility, Simplif...	ORPHA:500150
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, High, narrow palate, Brachycep...	OMIM:612289
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, High, narrow p...	ORPHA:2789
Ochoa Syndrome	Polydipsia	ORPHA:2704
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Cerebellar vermis hypoplasia, Hamartoma of tongue, Micrognathia, ...	OMIM:615948
Lead Poisoning	Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Cranial h...	ORPHA:330015
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Narrow mouth, Mandibular aplasia, Microglossia, Agenesis of...	ORPHA:990
Bardet-Biedl Syndrome 17	Polydipsia, Cognitive impairment	OMIM:615994
Holoprosencephaly-Postaxial Polydactyly Syndrome	Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Microcephaly, Cleft palate, O...	ORPHA:2166
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Tongue fasciculations	OMIM:601596
Marden-Walker Syndrome	Absent septum pellucidum, Camptodactyly of finger, Micrognathia, Microcephaly, Pyloric stenosis, ...	ORPHA:2461
Wolman Disease	Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f...	ORPHA:75233
X-Linked Agammaglobulinemia	Sinusitis, Malabsorption, Chronic diarrhea, Glossoptosis, Arthritis	ORPHA:47
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel, Vomiting, Macrocephaly, Neonatal death, Pachygyria, Nausea	OMIM:231680
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Hip contracture, Wide cranial sutures, Frontal bossing, Interphalangea...	OMIM:259600
Holoprosencephaly 2	Aplasia of the premaxilla, Proboscis, Microcephaly, Submucous cleft hard palate, Bilateral cleft ...	OMIM:157170
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cleft soft palate, Microcephaly, Pyloric stenosis, Supernumerary tooth, Nasogastric tube feeding ...	ORPHA:268261
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Immunodeficiency 49	Natal tooth, Reduced cerebral white matter volume, Micrognathia, Short philtrum, Wormian bones, A...	OMIM:617237
Campomelic Dysplasia	Relative macrocephaly, Irregular dentition, Frontal bossing, Micrognathia, Carious teeth, Wide an...	OMIM:114290
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Malar prominence, Wide mouth, Hypoplasia of the zygomatic bone, Aplasia/Hy...	ORPHA:2715
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Frontal bossing, Feeding difficulties, Macroglossia, Malar flattening, Midface retrusion, Delayed...	OMIM:613038
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Flat occiput, Micrognathia, Wide anterior fontanel, Dental malocclusion...	OMIM:249420
Pitt-Hopkins-Like Syndrome 2	Protruding tongue, Feeding difficulties, Wide mouth, Gastroesophageal reflux, Constipation	OMIM:614325
Distal Deletion 12Q	Frontal bossing, Median cleft lip, Micrognathia, Microcephaly, High, narrow palate, Supernumerary...	ORPHA:96149
Hajdu-Cheney Syndrome	Intestinal malrotation, Abnormality of the dentition, Open bite, Absent frontal sinuses, Microgna...	ORPHA:955
Alg9-Cdg	Microretrognathia, Thin upper lip vermilion, Villous atrophy, Prominent metopic ridge, Frontal bo...	ORPHA:79328
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy	ORPHA:103910
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Micrognathia, Cleft palate, Flat acetabular roof, Genu valgum, Glossoptos...	ORPHA:94068
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar...	OMIM:154500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Bifid uvula, Microcephaly	OMIM:617660
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Flat occiput, Micrognathia, Abdominal distention, Alveolar ridge overgr...	ORPHA:1655
Wrinkly Skin Syndrome	Delayed eruption of teeth, Microretrognathia, Congenital hip dislocation, Wormian bones, Delayed ...	OMIM:278250
Spinocerebellar Ataxia Type 36	Tongue atrophy, Tongue fasciculations, Bowel incontinence, Dysphagia	ORPHA:276198
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Wide anterior fontanel, ...	OMIM:618548
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue atrophy, Tongue fasciculations	OMIM:620285
Osteogenesis Imperfecta, Type Iv	Wormian bones, Otosclerosis, Dentinogenesis imperfecta	OMIM:166220
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Gastroesophagea...	OMIM:619472
Tarp Syndrome	Micrognathia, Pierre-Robin sequence, Large fontanelles, Alveolar ridge overgrowth, Cleft palate, ...	ORPHA:2886
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Hypoplasia of the zygomatic bone, Genu valgum	ORPHA:1295
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Micrognathia, Microglossia, Cleft palate, Hydranencephaly, Thick anterio...	ORPHA:2839
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Death in infancy, Microcephaly, Abdominal distention, Knee contracture, Feeding difficulties, Gas...	OMIM:620275
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
Malignant Peritoneal Mesothelioma	Abdominal distention, Peritonitis, Ileus, Abdominal pain	ORPHA:168811
Hereditary Angioedema Type 1	Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiti...	ORPHA:100050
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Psoriasis 14, Pustular	Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue	OMIM:614204
Holoprosencephaly	Frontal bossing, Median cleft lip, Flat occiput, Bilateral cleft lip, Aplasia/Hypoplasia of the c...	ORPHA:2162
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue	ORPHA:2759
Nephronophthisis 11	Anisocoria, Polydipsia	OMIM:613550
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Wide cranial sutures, Flat...	ORPHA:289157
Double Outlet Right Ventricle	Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Feeding difficulties, Narrow m...	ORPHA:3426
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Protruding tongue, Micrognathia, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Frontal bossing, Flexion contracture of finger, Micrognathia, Hypoplas...	OMIM:601812
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Anencephaly, Lobulate...	OMIM:269860
Spinocerebellar Ataxia 36	Tongue atrophy, Tongue fasciculations, Dysphagia	OMIM:614153
Celiac Disease, Susceptibility To, 1	Cerebral calcification, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting,...	OMIM:212750
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Hypoplasia of the olfactory bulb, Failure of eruption ...	ORPHA:2250
Curry-Jones Syndrome	Bicoronal synostosis, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip p...	OMIM:601707
Mend Syndrome	Micrognathia, Asymmetry of the mouth, Wide anterior fontanel, Cleft palate, High palate, Hypoplas...	ORPHA:401973
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Frontal bossing, Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, Cleft lip, M...	OMIM:616975
Cousin Syndrome	Frontal bossing, Micrognathia, Humeroradial synostosis, Alveolar ridge overgrowth, Cleft palate, ...	OMIM:260660
Restrictive Dermopathy 1	Natal tooth, Micrognathia, Wide anterior fontanel, Submucous cleft hard palate, Temporomandibular...	OMIM:275210
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Oste...	ORPHA:828
Chromosome 1P36 Deletion Syndrome, Distal	Feeding difficulties in infancy, Brachycephaly, Orofacial cleft, High palate, Gastroesophageal re...	OMIM:607872
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard palate, Feeding difficu...	ORPHA:3047
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention	OMIM:174050
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Dysphagia, Ankle clonus, Tongue fasciculations, Death in childhood	OMIM:211530
Osteogenesis Imperfecta, Type Vii	Death in infancy, Wide cranial sutures, Protrusio acetabuli, Wide anterior fontanel, Decreased ca...	OMIM:610682
Stuve-Wiedemann Syndrome 1	Pursed lips, Death in infancy, Enlarged joints, Frontal bossing, Micrognathia, Carious teeth, Elb...	OMIM:601559
Primary Effusion Lymphoma	Abdominal distention, Abdominal pain	ORPHA:48686
Myopathy, Myofibrillar, 7	Tongue atrophy, Elbow flexion contracture, Bowel incontinence, Dysphagia	OMIM:617114
Infantile Nephropathic Cystinosis	Abnormal cornea morphology, Polydipsia, Cognitive impairment, Corneal crystals	ORPHA:411629
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Microcephaly, Feeding difficulties in infancy, Submucous cleft hard palate, Cerebral atrophy, Ank...	OMIM:618891
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Multiple joint dislocation, ...	OMIM:619503
Robinow Syndrome	Fused thoracic vertebrae, Frontal bossing, Dental crowding, Persistence of primary teeth, Microgn...	ORPHA:97360
Autosomal Dominant Robinow Syndrome	Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo...	ORPHA:3107
Limb-Mammary Syndrome	Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Malar flatte...	ORPHA:69085
Pancreatic Agenesis-Holoprosencephaly Syndrome	Prominent occiput, Hypoplasia of the zygomatic bone, High palate, Solitary median maxillary centr...	ORPHA:556955
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Protruding tongue, Microcephaly, Deep philtrum, Prem...	ORPHA:99843
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Malnutrition, Dysphagia, ...	ORPHA:89842
Coffin-Siris Syndrome 12	Frontal bossing, Midface retrusion, Micrognathia, Celiac disease, Microcephaly, Velopharyngeal in...	OMIM:619325
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ...	ORPHA:1876
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Everted lower lip vermilion, Smooth philtrum, Protruding tongue	ORPHA:324410
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Cleft palate, Feeding difficulties, Downturned corners of mou...	ORPHA:488642
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Micrognathia, Protruding tongue, Microcephaly, Simplified gyral pattern...	OMIM:617062
Atelosteogenesis, Type I	Frontal bossing, Micrognathia, Elbow dislocation, Cleft palate, Knee dislocation, Fused cervical ...	OMIM:108720
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthropathy, Large fontanelles, Arthritis, High palate, Wormian bones, Thickened calvaria	OMIM:259100
Hyperaldosteronism, Familial, Type Iii	Polydipsia	OMIM:613677
Ovarian Fibroma	Abdominal distention, Odontogenic keratocysts of the jaw, Peritonitis, Abdominal pain	ORPHA:314473
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Biparietal narrowing	ORPHA:2031
Melkersson-Rosenthal Syndrome	Macroglossia, Cheilitis, Furrowed tongue	ORPHA:2483
East Syndrome	Polydipsia, Salt craving	ORPHA:199343
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Optic nerve hypoplasia, Cleft soft palate, Microcephaly, Genu valgum, Dow...	OMIM:619321
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Chronic constipation, Ankyloglossia	OMIM:619352
Osteogenesis Imperfecta, Type I	Wormian bones, Otosclerosis, Dentinogenesis imperfecta	OMIM:166200
Nephronophthisis 4	Polydipsia	OMIM:606966
Geroderma Osteodysplasticum	Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Periodontitis, Wormian bones, Mal...	OMIM:231070
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m...	ORPHA:2673
Distal 22Q11.2 Microdeletion Syndrome	Thin upper lip vermilion, Branchial fistula, Camptodactyly of finger, Bowel incontinence, Microce...	ORPHA:261330
Whipple Disease	Polydipsia, Anorexia, Depression	ORPHA:3452
Methanol Poisoning	Addictive alcohol use, Confusion	ORPHA:31825
Hereditary Acrokeratotic Poikiloderma	Turricephaly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the dentit...	ORPHA:2907
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Frontal bossing, Dental crowding, Brachycephaly, Narrow palate, High pa...	OMIM:616078
Ayme-Gripp Syndrome	Smooth philtrum, Thin upper lip vermilion, Mandibular prognathia, Delayed cranial suture closure,...	OMIM:601088
Folinic Acid-Responsive Seizures	Frontotemporal cerebral atrophy, Abdominal distention	ORPHA:79097
Tolchin-Le Caignec Syndrome	Micrognathia, Submucous cleft hard palate, Scaphocephaly, Oxycephaly, Prominent occiput, High pal...	OMIM:618971
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Dislocated radial head, Micrognathia, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia	ORPHA:2975
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thin vermilion border, Hypoplasia of the zygomatic bone, Brachycephaly, Long philtrum	OMIM:614800
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic...	ORPHA:100924
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Glossitis, Cleft palate, Feeding difficulties	ORPHA:79284
Familial Hyperaldosteronism Type Iii	Polydipsia	ORPHA:251274
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Thin upper lip vermilion, Hip contracture, Micrognathia, Microcephaly, Knee flexion contracture, ...	OMIM:210730
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Abdominal pain, Celiac disease, Hematemesis, Esophagea...	OMIM:301068
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Conjunctivitis	OMIM:242150
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Acetabular spurs, Bif...	OMIM:613091
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dental crowding, Micrognathia, Gastrointestinal dysmotility, Partial ag...	OMIM:270400
Brain-Lung-Thyroid Syndrome	Short attention span, Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Compul...	ORPHA:209905
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ...	ORPHA:2363
Diamond-Blackfan Anemia	Cleft soft palate, Micrognathia, Microcephaly, Cleft lip, High palate, Adenocarcinoma of the colon	ORPHA:124
Schimke Immuno-Osseous Dysplasia	Abdominal distention, Abnormal primary molar morphology, Abnormal intestine morphology, Hypodonti...	ORPHA:1830
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Tracheoesophageal fistula, Feeding difficulties, High palate, Stomatiti...	OMIM:277380
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Micrognathia, Microcephaly, Downturned corners of mouth, Glossoptosis, ...	ORPHA:444077
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Pte...	ORPHA:79403
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Nail-Patella Syndrome	Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Hartnup Disease	Glossitis, Gingivitis, Malabsorption	ORPHA:2116
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus	ORPHA:542306
Thyroid Ectopia	Large fontanelles, Macroglossia, Constipation, Abdominal distention	ORPHA:95712
Smith-Lemli-Opitz Syndrome	Micrognathia, Feeding difficulties in infancy, Gastroesophageal reflux, Biparietal narrowing, Apl...	ORPHA:818
Prolidase Deficiency	Carious teeth, Genu valgum, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:742
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Parietal foramina, Cleft of chin, Oxycephaly, Brachycephaly, Cleft pal...	OMIM:101400
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large ba...	ORPHA:261537
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Protruding tongue, Microcephaly, Mac...	OMIM:213300
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Poor appetite, Constipation, Vomiting, Glossitis	ORPHA:35858
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Nephrogenic Diabetes Insipidus	Polydipsia, Anorexia	ORPHA:223
Osteogenesis Imperfecta, Type Viii	Wormian bones, Wide anterior fontanel, Decreased calvarial ossification, Dentinogenesis imperfecta	OMIM:610915
Acquired Aneurysmal Subarachnoid Hemorrhage	Cognitive impairment, Memory impairment, Addictive alcohol use, Progressive neurologic deterioration	ORPHA:90065
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Frontal bossing, Midface retrusion, Wormian bones, Aganglionic megacol...	ORPHA:798
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain	ORPHA:83469
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Oral mucosal blisters, Feeding difficulties, Smooth tongue, Enamel hypoplasia, ...	ORPHA:79396
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ...	OMIM:309580
Nephronophthisis 3	Polydipsia	OMIM:604387
Blomstrand Lethal Chondrodysplasia	Natal tooth, Micrognathia, Protruding tongue, Protuberant abdomen, Long philtrum, Malar flattenin...	ORPHA:50945
Peritoneal Cystic Mesothelioma	Abdominal distention, Peritonitis, Constipation, Abdominal pain	ORPHA:168816
1Q21.1 Microdeletion Syndrome	Frontal bossing, Microcephaly, Ankyloglossia, High palate, Long philtrum, Agenesis of corpus call...	ORPHA:250989
Catel-Manzke Syndrome	Joint dislocation, Cleft upper lip, Micrognathia, Pierre-Robin sequence, Cleft palate, Genu valgu...	OMIM:616145
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Narrow mouth, Gingival overgrowth, Cerebral atrophy, Dysphagia	OMIM:230600
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow...	ORPHA:769
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Gastroesophageal ...	OMIM:615873
Primary Unilateral Adrenal Hyperplasia	Polydipsia	ORPHA:231580
Warburg-Cinotti Syndrome	Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness	OMIM:618175
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention	ORPHA:369
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption	ORPHA:71
Yunis-Varon Syndrome	Micrognathia, Abnormal occipital bone morphology, High, narrow palate, Broad secondary alveolar r...	ORPHA:3472
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Large ba...	ORPHA:261552
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Cleft hard palate, Gastroin...	ORPHA:2152
Nephronophthisis 1	Polydipsia	OMIM:256100
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Micrognathia, Protruding tongue, Microcephaly, Perisylvian predomin...	ORPHA:98889
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Distal Deletion 15Q	Thin upper lip vermilion, Flat occiput, Abnormality of the dentition, Micrognathia, Microcephaly,...	ORPHA:1596
Nephrotic Syndrome, Type 1	Pyloric stenosis, Gastroesophageal reflux, Abdominal distention	OMIM:256300
Costello Syndrome	Keratoconus	ORPHA:3071
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate, Feeding difficulties	OMIM:614557
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Bifid uvula, Craniosynostosis, Micrognathia	OMIM:601374
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Protruding tongue, Macroglossia, Gastroesophageal ref...	ORPHA:258
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia	ORPHA:369929
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Microcephaly, Aplasia/Hypoplasia of the cerebra...	OMIM:235730
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use	ORPHA:399180
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Hip dislocation, Cleft palate,...	OMIM:309350
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Microphthalmia, Syndromic 6	Midface retrusion, Micrognathia, Microcephaly, Brachycephaly, Cleft palate, Aplasia/Hypoplasia of...	OMIM:607932
Achondrogenesis, Type Ia	Turricephaly, Stillbirth, Protuberant abdomen, Protruding tongue	OMIM:200600
Meckel Syndrome, Type 1	Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Camptodactyly of ...	OMIM:249000
Liver Failure, Infantile, Transient	Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V...	OMIM:613070
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Elbow flexion contracture, Knee flexion contracture, Furrowed tongue, Microdontia, Oral leukoplakia	OMIM:148210
Giant Cell Arteritis	Anorexia, Abdominal pain, Arthritis, Gastrointestinal infarctions, Hepatic failure, Glossitis	ORPHA:397
Juvenile Sialidosis Type 2	Gingival overgrowth, Dysphagia, Protruding tongue	ORPHA:93399
Microvillus Inclusion Disease	Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea	ORPHA:2290
Wiedemann-Rautenstrauch Syndrome	Downturned corners of mouth, Short philtrum, Premature loss of teeth, Agenesis of corpus callosum...	ORPHA:3455
Pallister-Hall Syndrome	Natal tooth, Cleft upper lip, Radial head subluxation, Hip dislocation, Cleft palate, Anteriorly ...	OMIM:146510
Smith-Mccort Dysplasia 1	Microcephaly, Hypoplastic facial bones, Genu valgum, Dolichocephaly, Hypoplastic acetabulae, Genu...	OMIM:607326
Apparent Mineralocorticoid Excess	Polydipsia	ORPHA:320
Al Amyloidosis	Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Xerostomia, Macroglossia, Dysph...	ORPHA:85443
Senior-Boichis Syndrome	Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:84081
Septo-Optic Dysplasia Spectrum	Polydipsia	ORPHA:3157
Sepsis In Premature Infants	Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali...	ORPHA:90051
Toxic Epidermal Necrolysis	Polydipsia, Conjunctivitis, Corneal erosion, Dysphagia	ORPHA:537
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention, Thin corpus callosum, Hypoplasia of the corpus c...	OMIM:618528
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Persistence of primary teeth, Microcephaly, Supernumerary tooth, Submu...	OMIM:300166
Glucagonoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97280
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Protruding tongue	ORPHA:53351
Pediatric Systemic Lupus Erythematosus	Abdominal pain, Abdominal distention, Diarrhea, Oral ulcer, Arthritis, Vomiting	ORPHA:93552
Donohue Syndrome	Wide mouth, Abdominal distention, Thick lower lip vermilion, Gingival overgrowth	OMIM:246200
Gapo Syndrome	Keratoconus	ORPHA:2067
Meckel Syndrome	Aplasia/Hypoplasia of the tongue, Micrognathia, Microcephaly, Anencephaly, Cleft palate, Furrowed...	ORPHA:564
Neuroocular Syndrome	Genu recurvatum, Microcephaly, Short uvula, Submucous cleft hard palate, Downturned corners of mo...	OMIM:619539
Autosomal Recessive Cutis Laxa Type 1	Microcephaly, Pyloric stenosis, Wide anterior fontanel, Hip dislocation, Joint subluxation, Small...	ORPHA:90349
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent...	ORPHA:2241
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Microcephaly, Thin corpus callosum, Protruding tongue	OMIM:619580
Meckel Syndrome 14	Microretrognathia, Micrognathia, Abdominal distention, Decreased calvarial ossification, Protuber...	OMIM:619879
Congenital Sialidosis Type 2	Macrocephaly, Gingival overgrowth, Protruding tongue	ORPHA:93400
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy, Flexion contracture of finger, Optic nerve hypoplasia	ORPHA:101085
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Abdominal distention, Microcolon	OMIM:619362
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micrognathia, Microcephaly, Submucous cleft hard palate, Cleft palate, Prominent occiput, Thick v...	ORPHA:2636
Hypomagnesemia 3, Renal	Polydipsia, Astigmatism	OMIM:248250
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Septo-optic dysplasia, Cerebellar vermis hypopla...	OMIM:619841
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Cerebellar vermis hypoplasia, Intestinal malrotation, Hamartoma of tongue, Brac...	OMIM:263520
Gracile Bone Dysplasia	Death in infancy, Ankyloglossia	OMIM:602361
Mucoepithelial Dysplasia, Hereditary	Melena, Erythematous oral mucosa, Chronic diarrhea, Furrowed tongue	OMIM:158310
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Prominent metopic ri...	ORPHA:2729
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polydipsia, Salt craving	OMIM:612780
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Feeding difficulties...	ORPHA:138
Renal Hypoplasia	Polydipsia	ORPHA:93101
Senior-Loken Syndrome 1	Polydipsia	OMIM:266900
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Frontal bossing, Dandy-Walker malformation, Cleft upper lip, Micrognathia, Esophageal atresia, Ab...	ORPHA:93271
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Cerebral white matter atrophy, Hypoperistalsis	OMIM:619365
Arterial Tortuosity Syndrome	Keratoconus, Astigmatism	OMIM:208050
Generalized Pustular Psoriasis	Arthritis, Geographic tongue, Cheilitis	ORPHA:247353
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Microcephaly, Cerebral atrophy, Feeding difficulties, Leukoencephalopathy, Periventricular white ...	ORPHA:79282
Staphylococcal Necrotizing Pneumonia	Addictive alcohol use, Confusion	ORPHA:36238
Inflammatory Pseudotumor Of The Liver	Abdominal distention, Vomiting, Nausea, Abdominal pain	ORPHA:90003
Hyperparathyroidism, Neonatal Severe	Polydipsia	OMIM:239200
Helix Syndrome	Polydipsia	OMIM:617671
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tongue atrophy, Flexion contracture of finger, Microcephaly, Abnormal cerebral white matter morph...	ORPHA:466768
Juvenile Nephropathic Cystinosis	Abnormal cornea morphology, Polydipsia, Corneal crystals	ORPHA:411634
Hypothyroidism, Congenital, Nongoitrous, 2	Large posterior fontanelle, Feeding difficulties in infancy, Abdominal distention, Macroglossia, ...	OMIM:218700
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Cystinosis, Nephropathic	Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Dysphagia, Recurrent corneal ero...	OMIM:219800
Williams Syndrome	Micrognathia, Rectal prolapse, Gastroesophageal reflux, Microdontia, Spina bifida occulta, Abnorm...	ORPHA:904
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Abnormality of the dentition, Feeding difficulties in infancy, Trismus, ...	ORPHA:3206
Otopalatodigital Syndrome, Type Ii	Frontal bossing, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Microgna...	OMIM:304120
Arterial Tortuosity Syndrome	Keratoconus, Keratoglobus	ORPHA:3342
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Fraser Syndrome	Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Microcephaly, Dental malocclus...	ORPHA:2052
Necrotizing Enterocolitis	Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting	ORPHA:391673
Degcags Syndrome	Micrognathia, Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Agenesis of corpus...	OMIM:619488
Panhypophysitis	Polydipsia	ORPHA:95513
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract...	ORPHA:51890
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Esophageal varix	OMIM:215600
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Dolichocephal...	OMIM:620186
Isolated Osteopoikilosis	Addictive alcohol use	ORPHA:166119
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Diarrhea, Thick vermilio...	ORPHA:653
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors, Emotional labilit...	ORPHA:293987
Alternating Hemiplegia Of Childhood	Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointesti...	ORPHA:2131
Pachyonychia Congenita 3	Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue	OMIM:615726
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Brachycephaly, Downturned corners of mouth, Parietal bossing, Agenesis of corpus ca...	OMIM:264090
Acute Intermittent Porphyria	Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi...	ORPHA:79276
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Abdominal pain, Microcephaly, High, narrow palate, Short uvula, Dolicho...	OMIM:619475
Wolfram Syndrome	Polydipsia, Dementia	ORPHA:3463
Gitelman Syndrome	Polydipsia, Salt craving	OMIM:263800
Acute Lung Injury	Addictive alcohol use	ORPHA:178320
Ablepharon Macrostomia Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Thin vermilion border, Hypoplasia...	ORPHA:920
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Tongue atrophy	ORPHA:99956
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Thin vermilion border, Genu varum	OMIM:602557
Ovarian Fibrothecoma	Abdominal distention, Peritonitis, Abdominal pain	ORPHA:314478
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh...	ORPHA:275761
Microsporidiosis	Sinusitis, Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Vomiting, Intermittent diarrh...	ORPHA:2552
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Abdominal distention, Dolichocephaly, Anal atresia	OMIM:271520
Oligomeganephronia	Polydipsia	ORPHA:2260
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Abdominal distention, Chronic diarrhea, Vomiting, Gastroesophageal reflux	OMIM:620233
Restrictive Dermopathy	Natal tooth, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Temporomandibula...	ORPHA:1662
Letterer-Siwe Disease	Stomatitis, Abdominal distention	OMIM:246400
Hereditary Fructose Intolerance	Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ...	ORPHA:469
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Cam...	OMIM:601803
Herpes Simplex Virus Encephalitis	Addictive alcohol use	ORPHA:1930
Kawasaki Disease	Nausea and vomiting, Abdominal pain, Diarrhea, Cheilitis, Arthritis, Glossitis	ORPHA:2331
Charcot-Marie-Tooth Disease Type 4C	Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations	ORPHA:99949
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi...	ORPHA:309031
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Congenital hip dislocation, Flat occiput, Micrognathia, Abnormal ca...	OMIM:216340
Plague	Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Abnormality of the elbow, Enterocol...	ORPHA:707
Proximal Renal Tubular Acidosis	Polydipsia, Cataract, Band keratopathy	ORPHA:47159
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Malnutrition, Dysphag...	ORPHA:79408
Acute Promyelocytic Leukemia	Addictive alcohol use, Anorexia	ORPHA:520
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Relative macrocephaly, Limitation of movement at ankles, Short lingual...	ORPHA:740
Idiopathic Hypereosinophilic Syndrome	Ankle swelling, Abdominal pain, Feeding difficulties in infancy, Malabsorption, Abdominal distent...	ORPHA:3260
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea	ORPHA:100085
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Microcornea, Keratoconus	OMIM:225400
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormality of mouth shape, Increased head circumference, Abdominal di...	ORPHA:3003
Cowden Syndrome	Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate, Macroc...	ORPHA:201
Fraser Syndrome 2	Intestinal malrotation, Abdominal distention, Rectal atresia, Narrow mouth, Anal atresia	OMIM:617666
Currarino Syndrome	Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons...	OMIM:176450
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abdominal distention, Vomiting, Congenital pyloric atresia, Oral mucosal blisters	ORPHA:158684
Wilson Disease	Acute hepatic failure, Abdominal distention, Osteoarthritis, Esophageal varix, Vomiting, Dysphagi...	OMIM:277900
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Abdominal distention, Anorexia, Episodic abdominal pain	ORPHA:370348
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Exaggerated median tongue furrow, Cerebellar vermis hypoplasia, Intestinal...	OMIM:312870
Fanconi-Bickel Syndrome	Abdominal distention, Poor appetite, Malabsorption	OMIM:227810
Erdheim-Chester Disease	Polydipsia	ORPHA:35687
Castleman Disease	Nausea and vomiting, Abdominal distention, Intestinal obstruction, Abdominal pain	ORPHA:160
Porphyria Cutanea Tarda	Addictive alcohol use, Corneal scarring	ORPHA:101330
Mirizzi Syndrome	Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea	ORPHA:521219
Down Syndrome	Aganglionic megacolon, Protruding tongue, Brachycephaly, Duodenal stenosis, Macroglossia, Malar f...	OMIM:190685
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention, Punctate periventricular T2 hyperintense foci	ORPHA:309256
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain	ORPHA:64739
Ethylene Glycol Poisoning	Addictive alcohol use, Confusion, Euphoria	ORPHA:31826
Cirrhotic Cardiomyopathy	Conjunctival icterus, Addictive alcohol use	ORPHA:57777
Primary Biliary Cholangitis	Celiac disease, Abdominal distention, Hepatic failure, Gastrointestinal inflammation	ORPHA:186
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Dysphagia	ORPHA:99880
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Premature osteoarthritis, Genu varum	ORPHA:93352
Parathyroid Carcinoma	Polydipsia, Dysphagia	ORPHA:143
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Diffuse leuko...	OMIM:256810
Distal Renal Tubular Acidosis	Polydipsia	ORPHA:18
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia	ORPHA:93111
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Abnormal basal ganglia MRI signal intensity, Accessory oral frenu...	ORPHA:672
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs...	ORPHA:436252
Arima Syndrome	Polydipsia	OMIM:243910
Hereditary Spherocytosis	Abdominal distention, Gout, Abdominal pain	ORPHA:822
Ablepharon-Macrostomia Syndrome	Anteriorly placed anus, Short upper lip, Wide mouth, Hypoplasia of the zygomatic bone, Aplastic z...	OMIM:200110
Fanconi-Bickel Syndrome	Abdominal distention, Hepatic failure	ORPHA:2088
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Punctate periventricular T2 hyperintense foci	ORPHA:309263
Gitelman Syndrome	Polydipsia, Salt craving	ORPHA:358
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Cognitive impairment	ORPHA:731
Metachromatic Leukodystrophy, Adult Form	Abdominal distention, Bowel incontinence, Punctate periventricular T2 hyperintense foci	ORPHA:309271
Liver Disease, Severe Congenital	Macrocephaly at birth, Chronic gastritis, Micrognathia, Abdominal distention, Diarrhea, Malnutrit...	OMIM:619991
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Abdominal distention, Peritonitis, Microcolon, Ileal atresia	OMIM:619351
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Polydipsia	OMIM:602522
Pancreatoblastoma	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:677
X-Linked Acrogigantism	Diastema, Abdominal distention	ORPHA:300373
Congenital Disorder Of Glycosylation, Type Iiw	Micrognathia, Supernumerary tooth, Gastroesophageal reflux, Vomiting, Ankyloglossia	OMIM:619525
Gallbladder Neuroendocrine Tumor	Abdominal distention, Nausea, Anorexia, Episodic abdominal pain	ORPHA:100086
Leprechaunism	Microcephaly, Abdominal distention, Rectal prolapse, Megarectum, Thick vermilion border	ORPHA:508
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea	OMIM:214700
Choreoacanthocytosis	Caudate atrophy, Temporomandibular joint crepitus, Protruding tongue, Abnormal putamen morphology...	ORPHA:2388
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral mucosal blisters, Intestinal perforation, Oral-pharyngeal dysphagia, Diarrhea, Abd...	ORPHA:95455
Craniofacial Microsomia 1	Block vertebrae, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Genu val...	OMIM:164210
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Abdominal distention, Hepatic failure, Death in infancy	OMIM:617156
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Keratoconjunctivitis sicca, Depression	ORPHA:285
Bartter Syndrome, Type 2, Antenatal	Polydipsia	OMIM:241200
Lymphatic Malformation 7	Abdominal distention	OMIM:617300
Biliary, Renal, Neurologic, And Skeletal Syndrome	Frontal bossing, Abdominal distention, Esophageal varix, Frontotemporal cerebral atrophy, Knee di...	OMIM:619534
Carney Complex	Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho...	ORPHA:1359
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal pupil morphology, Cognitive impairment	ORPHA:286
Kasabach-Merritt Syndrome	Abdominal distention, Abdominal pain	ORPHA:2330
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus	OMIM:130050
Atresia Of Urethra	Abdominal distention	ORPHA:105
Eisenmenger Syndrome	Abdominal distention	ORPHA:97214
Posterior Urethral Valve	Retrognathia	ORPHA:93110
Lower Urinary Tract Obstruction, Congenital		OMIM:618612

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 Bnc2

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 Bnc2.

No publications found that use IMPC mice or data for Bnc2.

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

MGI Allele	Allele Type	Produced
Bnc2^{tm36299(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Bnc2^{tm359628(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Bnc2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Bnc2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Bnc2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Bnc2 MGI:2443805

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Bnc2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data