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Gene: Slc4a2 MGI:109351

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 4 (anion exchanger), member 2
Synonyms:
Ae2,  B3RP

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • 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.

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.

Phenotype associated images not available

Human diseases caused by Slc4a2 mutations

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

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

The table below shows human diseases associated to Slc4a2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Hyperparathyroidism OMIM:620366

The table below shows human diseases predicted to be associated to Slc4a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Spermatogenic Failure 17
Male infertility OMIM:617214
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Cardiospondylocarpofacial Syndrome
Severe short stature, High, narrow palate, Conductive hearing impairment, Failure of eruption of ... ORPHA:3238
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Nausea, Abnormal gastric mu... ORPHA:2494
Pitt-Hopkins Syndrome
Gait ataxia, Gastroesophageal reflux, Short philtrum, Thickened helices, Ataxia, Hiatus hernia, C... ORPHA:2896
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Posteriorly rotated ears, Micrognathia, Crowded maxillary incisors, Cryptorchidism, Narrow palate... ORPHA:2063
4H Leukodystrophy
Delayed eruption of teeth, Short stature, Decreased response to growth hormone stimulation test, ... ORPHA:289494
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Micrognathia, Tremor, Protruding ear, High palate, Short philtrum, Abnormal repe... OMIM:618342
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Aggressive behavior, Tremor, Micrognathia, Abnormality of the dentition, Gait at... ORPHA:476126
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Short stature, Esophageal stricture, Sensorineural hearing impairment,... OMIM:616029
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Short stature, Ataxia, Postural tremor, Impaired distal proprioception... ORPHA:447896
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Gait disturbance, Attention deficit... OMIM:618761
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Osteoglosphonic Dysplasia
Severe short stature, Rhizomelia, Micrognathia, Cryptorchidism, Protruding ear, Multiple unerupte... ORPHA:2645
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Short stature, Abnormality of the philtrum, Micrognathia, Cryptorchidi... ORPHA:2863
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Ataxia, Dental malocclusion, Microtia, Short mandibula... OMIM:141300
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Short stature, Ataxia, Tremor, Abnormal pyramidal sign, D... OMIM:614381
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Marbach-Rustad Progeroid Syndrome
Short stature, Delayed eruption of primary teeth, Micrognathia, Growth delay, Eruption failure, H... OMIM:619322
Gardner Syndrome
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Abnormality of the dent... ORPHA:79665
Familial Adenomatous Polyposis 1
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... OMIM:175100
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... OMIM:166750
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Downturned corner... OMIM:617865
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death OMIM:619817
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest... ORPHA:733
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ... ORPHA:263665
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Eiken Syndrome
Short stature, Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multipl... OMIM:600002
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Pain insensitivity, Dental crowding, Aggressive behavior, Wide mouth, ... OMIM:618825
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Gingival fibromat... ORPHA:2025
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Death in infancy, Ataxia, Choreoathetosis, Hypertonia, Agitation, Hemi... OMIM:272300
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Hearing impairment ORPHA:2222
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Hsd10 Disease
Ataxia, Postnatal growth retardation, Tremor, Gastrointestinal dysmotility, Rigidity, Choreoathet... ORPHA:391417
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Ataxia, Dental crowding, Inability to walk, Sensorineural hearing impa... OMIM:616354
Otopalatodigital Syndrome, Type I
Short stature, Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted ... OMIM:311300
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Ataxia, Abnormal dental enamel morphology, Tremor, Cryptorc... ORPHA:10
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over... ORPHA:2027
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Abnormal dental morphology, Alveola... ORPHA:2972
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Otodental Syndrome
High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Abnormal dental ename... ORPHA:2791
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Lowry-Maclean Syndrome
Delayed eruption of teeth, Intrauterine growth retardation, Cleft palate OMIM:600252
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Ataxia, Abnormality of the dentition, Gingival fibromatosis, Gingival ... ORPHA:2026
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Wide anterior fontanel, Cleft palate, High p... OMIM:619736
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Trisomy 9P
Dental crowding, Non-midline cleft lip, Protruding ear, Downturned corners of mouth, Impacted too... ORPHA:236
Elsahy-Waters Syndrome
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Anteriorly placed anu... OMIM:211380
Gapo Syndrome
Micrognathia, High, narrow palate, Wide anterior fontanel, Thick lower lip vermilion, Protruding ... OMIM:230740
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, G... ORPHA:3019
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Hyperactivity, Abnormal pinna morphology, Short stature, Cryptorchidis... OMIM:614607
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Oral mucosal blisters, Narrow mouth, Esophageal stricture, Gr... OMIM:226600
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Trichothiodystrophy 3, Photosensitive
Natal tooth, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Carious teeth, Hypertonia... OMIM:616395
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Den Hoed-De Boer-Voisin Syndrome
Tremor, Gastroesophageal reflux, Widely spaced teeth, Abnormal repetitive mannerisms, Amelogenesi... OMIM:619229
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Micrognathia, Inability to walk, Bilateral conductive hearing impairment, Low-set ea... OMIM:617802
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Ataxia, Involuntary movements, Choreoathetosis, Amelogenesis imperfect... OMIM:615905
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,... OMIM:619079
Brachydactyly, Type E1
Moderately short stature, Multiple impacted teeth OMIM:113300
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Broad-based gait, Growth delay, Macroglossia, Constipation OMIM:614450
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Hyperactivity, Short stature, Micrognathia, Postnatal growth retardati... ORPHA:73272
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate OMIM:217150
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Short stature, Micrognathia, Progressive hearing impairment, High pala... OMIM:613849
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Severe short stature, Rhizomelia, Hypoplasia of... OMIM:166250
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia ORPHA:779
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Ataxia, Esophageal varix, Growth delay, Intrauterine growth retardat... OMIM:617341
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Neuronal Intestinal Pseudoobstruction
Natal tooth, Malabsorption ORPHA:99811
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Death in infancy, Short stature, Malabsorption, Abnormality of the den... ORPHA:2315
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Low-set, posteriorly rotated ears, Mandibular prognathia, Short stature, Open b... ORPHA:1327
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Short philtrum, Denti... ORPHA:71267
Acrootoocular Syndrome
Delayed eruption of teeth, Short stature, Decreased response to growth hormone stimulation test, ... ORPHA:2980
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Abnormal soft palate morpholo... ORPHA:884
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Kleefstra Syndrome
Mandibular prognathia, Tented upper lip vermilion, Downturned corners of mouth, Gastroesophageal ... ORPHA:261494
Noonan Syndrome 7
Short stature, Thickened helices, Growth delay, Large earlobe, Thick vermilion border, Low-set ea... OMIM:613706
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Cockayne Syndrome Type 2
Mandibular prognathia, Lower limb spasticity, Ataxia, Delayed eruption of primary teeth, Cryptorc... ORPHA:90322
Coffin-Siris Syndrome 3
Short stature, Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, High ... OMIM:614608
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Posteriorly rotated ears, Spastic tetraparesis, Wide mouth, Delayed erup... OMIM:618506
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Hyperactivity, Tented upper lip vermilion, Poster... OMIM:619148
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Short stature, Cleft upper lip, Ext... ORPHA:915
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Sensorineural he... ORPHA:2712
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Emanuel Syndrome
Dental crowding, Micrognathia, Gastroesophageal reflux, High palate, Bifid uvula, Cryptorchidism,... ORPHA:96170
Plummer-Vinson Syndrome
Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Esophageal web,... ORPHA:54028
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Short stature... ORPHA:420561
Bronchogenic Cyst
Abnormal esophagus morphology, Paresthesia, Dysphagia, Abnormal stomach morphology ORPHA:2357
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Short stature, Delayed eruption of primary tee... ORPHA:819
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Protruding tongue, Aggressive beha... OMIM:610253
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Protruding ear, Hypertonia, High palate, Widely spaced teeth, Progress... ORPHA:192
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... ORPHA:2769
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, Midgut malrotation, Hi... ORPHA:2409
Emanuel Syndrome
Broad jaw, Torticollis, Dental crowding, Intestinal malrotation, Delayed eruption of primary teet... OMIM:609029
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Short stature, Hypodontia ORPHA:63442
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Short stature, Abnormal dental enamel morpholog... ORPHA:96264
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Short Stature, Dauber-Argente Type
Postnatal growth retardation, Short stature, Delayed eruption of teeth OMIM:619489
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Waddling gait, Delayed eruption of teeth, Short stature, Moderately short stature, Dental maloccl... OMIM:612350
Spondylocarpotarsal Synostosis Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Disproportionate short-trunk short st... OMIM:272460
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Micrognathia, Postnatal growth retardation, Pyloric stenosis, Cryptorchidism, Clef... ORPHA:96184
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Hyperactivity, Mild postnatal growth retardation, Cryptorchidism, Rect... OMIM:235510
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Micrognathia, Carious teeth, Cryptorchidism, Sensorineural hearing imp... OMIM:214150
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis OMIM:615190
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Carious teeth, Narrow mouth, Esophageal stricture, Growth dela... ORPHA:89842
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Short stature, Abnormal dental ename... ORPHA:1452
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Death in infancy, Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Intracta... OMIM:226730
Hutchinson-Gilford Progeria Syndrome
High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Dental crowding, Shor... ORPHA:740
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tremor, Cryp... ORPHA:96263
Char Syndrome
Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Short philtrum, Thick... ORPHA:46627
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Short stature, Uplifted earlobe, Abnormality of the dentition, Thick lower lip vermi... ORPHA:261652
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Somatic sensory dysfunction, Esophageal stenosis, Ataxia, Spasticity, Downturned corners of mouth... OMIM:615510
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth... ORPHA:2250
Septo-Optic Dysplasia Spectrum
Short stature, Anterior pituitary hypoplasia, Esophageal atresia, Sensorineural hearing impairmen... ORPHA:3157
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Abnormal antihelix morphology, Abnormal oral frenulu... ORPHA:952
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Short stature, Hypodontia, Delayed puberty ORPHA:1816
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Short stature, Abnormality of the m... ORPHA:949
Cholesteryl Ester Storage Disease
Diarrhea, Esophageal varix ORPHA:75234
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia, Short stature, Pseudohypoparathyroidism OMIM:612463
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Cryptorchidism, Thick lower lip vermilion, Widely spaced teeth, Macrotia OMIM:619797
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Short stature, Dental crowding, Carious teeth, Wide anterior ... OMIM:269300
Sotos Syndrome
Mandibular prognathia, Posteriorly rotated ears, Aggressive behavior, High, narrow palate, Crypto... OMIM:117550
Pycnodysostosis
Obtuse angle of mandible, Rhizomelia, Decreased response to growth hormone stimulation test, Dela... ORPHA:763
Three M Syndrome 2
Delayed eruption of teeth, Severe short stature, Short stature, Dental malocclusion, Protruding e... OMIM:612921
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Growth... ORPHA:79409
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Sensorineural hearing impairment, Abno... ORPHA:1018
Aredyld Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Craniofacial hyperostosis, Short statur... ORPHA:1133
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Sensorineural hearing impairment, Hy... ORPHA:3214
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Chronic diarrhea, Esophageal varix, Growth delay, Inflammation of the large int... OMIM:614576
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia, Short stature OMIM:613382
Metachromatic Leukodystrophy
Incoordination, Ataxia, Bowel incontinence, Abnormal stomach morphology, Tremor, Neoplasm of the ... ORPHA:512
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Short stature, Retrognathia, Dentinogenesis imperfecta ORPHA:166272
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Microdontia,... ORPHA:181
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Delaye... ORPHA:90321
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Severe short stature, Posteriorly rotated ears, Micrognathia, High, na... ORPHA:2780
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl... OMIM:216300
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Short stature, Dental crowding, Short mandibular rami, Periodic paralys... OMIM:170390
Kabuki Syndrome 2
Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Lower lip pit, Cupped ear... OMIM:300867
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Dyskeratosis Congenita, Autosomal Dominant 6
Intrauterine growth retardation, Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition OMIM:616553
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Severe short stature, Intestinal pseudo-obstruction, Short stature, Di... OMIM:309900
Cornelia De Lange Syndrome 1
Micrognathia, High, narrow palate, Downturned corners of mouth, Hypertonia, High palate, Gastroes... OMIM:122470
8P Inverted Duplication/Deletion Syndrome
Impulsivity, Micrognathia, High, narrow palate, Cryptorchidism, Abnormality of dental eruption, S... ORPHA:96092
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Micrognathia, Carious teeth, ... OMIM:190350
Feingold Syndrome
Short stature, Micrognathia, External ear malformation, Esophageal atresia, Sensorineural hearing... ORPHA:1305
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Protruding ear, Wide mouth... ORPHA:137834
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of primary teeth, Gastroesophageal reflux, Dental crowding, Hiatus hernia OMIM:619769
Dubowitz Syndrome
Micrognathia, Rectal prolapse, Protruding ear, High palate, Spina bifida occulta, Low-set, poster... ORPHA:235
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Posteriorly rotated ears, Short stature, Decreased response to growth ... OMIM:615866
Williams Syndrome
Micrognathia, Tremor, Rectal prolapse, Dysmetria, Protruding ear, Gastroesophageal reflux, Compul... ORPHA:904
Raine Syndrome
Mandibular prognathia, Death in infancy, Mixed hearing impairment, Natal tooth, Posteriorly rotat... OMIM:259775
Pycnodysostosis
Short stature, Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal si... OMIM:265800
Laron Syndrome
Delayed eruption of teeth, Severe short stature, Micrognathia, Tooth agenesis, Delayed puberty, M... ORPHA:633
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Head-banging, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open ... OMIM:619356
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Broad-based gait, Posteriorly rotated ears, Underdeveloped superior cr... ORPHA:369950
Syndromic Recessive X-Linked Ichthyosis
Short stature, Abnormal stomach morphology, Cryptorchidism, Attention deficit hyperactivity disor... ORPHA:281090
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Esophageal atresia, ... ORPHA:87
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Microretrognathia, Aganglionic megacolon, Ataxia, Esophageal a... ORPHA:59315
Codas Syndrome
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Abnormal dental morp... ORPHA:1458
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Micrognathia, Postnatal growth retardation, Wide mouth, Hypertonia, Gastroesophageal reflux, Esop... ORPHA:79350
Wolfram Syndrome
Gastrointestinal hemorrhage, Ataxia, Malabsorption, Sensorineural hearing impairment, Gastric ulc... ORPHA:3463
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Retrog... OMIM:619227
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Short stature, Ataxia, Dental crowding, Aggressive behavior, Delayed erupt... OMIM:617799
Wolman Disease
Growth delay, Esophageal varix, Steatorrhea ORPHA:75233
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Abnormality of dental color, Thin upper lip vermilion, Short sta... ORPHA:37553
Immunodeficiency 12
Short stature, Esophageal stricture, Cheilitis, Death in adolescence, Growth delay, Recurrent aph... OMIM:615468
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of... ORPHA:50814
Mandibulofacial Dysostosis, Guion-Almeida Type
Short stature, Micrognathia, Esophageal atresia, Deep philtrum, Cleft palate, Microtia, Atresia o... OMIM:610536
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short stature, Bilateral cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Low-set e... OMIM:619859
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Inability to walk, Babinski sign, Tetraparesis, Spasticity OMIM:617105
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Short stature, Dental crowding, Micrognathia, Hypoplasia of the maxill... OMIM:257850
Hennekam Syndrome
Delayed eruption of teeth, Mild postnatal growth retardation, Abnormal oral mucosa morphology, Ab... ORPHA:2136
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Coffin-Siris Syndrome 11
Cleft soft palate, Uplifted earlobe, Esophageal atresia, Downturned corners of mouth, Wide mouth,... OMIM:618779
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Short stature, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Carious teeth, Growth delay, Difficulty walking, Secondary hyperparath... OMIM:277440
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Dysosteosclerosis
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Disproportionate sh... OMIM:224300
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Gastroesophageal reflux, High palate,... OMIM:300373
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Dubowitz Syndrome
Delayed eruption of teeth, Hyperactivity, Short stature, Micrognathia, Postnatal growth retardati... OMIM:223370
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Tau... OMIM:157980
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Short Syndrome
Delayed eruption of teeth, Micrognathia, Sensorineural hearing impairment, Dental malocclusion, B... OMIM:269880
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Advanced eruption of teeth, High palate, Short stature OMIM:262190
Van Esch-O'Driscoll Syndrome
Short stature, Impulsivity, Esophageal atresia, Unilateral vocal cord paralysis, Tracheoesophagea... OMIM:301030
Lead Poisoning
Delayed eruption of teeth, Somatic sensory dysfunction, Miscarriage, Anorexia, Poor gross motor c... ORPHA:330015
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Carious teeth, Cryptorchidism... OMIM:607812
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Momo Syndrome
Delayed eruption of teeth, Short stature, Underfolded helix, Thick lower lip vermilion, Dental ma... ORPHA:2563
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Crypt... ORPHA:950
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Short stature, Hypoplastic sweat glands, Oligodontia, Hypodontia OMIM:601345
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Natal tooth, Short stature, Micrognathia, Low-set ears, Death in childhood OMIM:616901
Coach Syndrome 1
Ataxia, Esophageal varix, Growth delay, Wide mouth, Oculomotor apraxia, Spasticity OMIM:216360
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Extra concha fold, Micrognathia,... OMIM:209885
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
High palate, Persistence of primary teeth OMIM:147060
Multiple Pterygium-Malignant Hyperthermia Syndrome
Severe short stature, Posteriorly rotated ears, Exaggerated cupid's bow, Cryptorchidism, Narrow m... ORPHA:2215
Cap Polyposis
Atrophic gastritis, Diarrhea, Hematochezia, Colorectal polyposis, Constipation ORPHA:160148
Adnp Syndrome
Thin upper lip vermilion, Short stature, Oral-pharyngeal dysphagia, Aggressive behavior, Cryptorc... ORPHA:404448
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Clonus, Micrognathia, Deep philtrum,... ORPHA:534
Codas Syndrome
Delayed eruption of teeth, Short stature, Cryptorchidism, Sensorineural hearing impairment, Gastr... OMIM:600373
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Micrognathia, Postnatal growth retardation, Pyloric stenosis, Midgut malrot... OMIM:263750
Odontochondrodysplasia 1
Delayed eruption of teeth, Death in infancy, Short stature, Mesomelic short stature, Long philtru... OMIM:184260
Carpenter Syndrome 1
Abnormal pinna morphology, Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism... OMIM:201000
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Episodic vomiting, Pi... OMIM:615873
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Short stature, Abnormal dental morp... ORPHA:568
Fanconi Anemia, Complementation Group Q
Short stature, Esophageal atresia, Anteriorly placed anus, Growth delay, Low-set ears OMIM:615272
Genitopatellar Syndrome
Delayed eruption of teeth, Short stature, Micrognathia, Cryptorchidism, Gastroesophageal reflux, ... ORPHA:85201
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia OMIM:129550
De Barsy Syndrome
Delayed eruption of teeth, Short stature, Postnatal growth retardation, Cryptorchidism, Small, co... ORPHA:2962
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Pyloric stenosis, Esophageal atresia, Cryptorch... OMIM:101200
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Rhizomelia, Hamartoma of tongue, Cryptorchidism, Macrotia, Cleft ... OMIM:616300
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Macrotia, Gastritis, Micrognathia ORPHA:2575
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis OMIM:277320
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morph... ORPHA:1782
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Natal tooth, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of... OMIM:617925
Distal Deletion 12Q
Micrognathia, High, narrow palate, Self-mutilation, Hyperactivity, Short stature, Esophageal atre... ORPHA:96149
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Short stature, Ataxia, Postural tremor, Babinski sign, Gingival overgr... OMIM:301072
Rabson-Mendenhall Syndrome
Mandibular prognathia, Enlarged ovaries, Short stature, Dental crowding, Abnormality of the denti... ORPHA:769
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... OMIM:101800
Dyskeratosis Congenita
Neoplasm of the pancreas, Esophageal stenosis, Short stature, Malabsorption, Hypoplasia of the ma... ORPHA:1775
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Supernumerary nipple, Micrognathia,... ORPHA:1071
Fanconi Anemia, Complementation Group B
Death in infancy, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Low-set ears, Intr... OMIM:300514
Opitz Gbbb Syndrome
Natal tooth, Enlarged ovaries, Posteriorly rotated ears, Short stature, Micrognathia, Cryptorchid... ORPHA:2745
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Posteriorly rotated ears, Progressive spasti... OMIM:247200
Hall-Riggs Syndrome
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Downturned corners o... ORPHA:2107
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Peritonitis, Esophageal varix... ORPHA:131
Portal Hypertension, Noncirrhotic, 2
Esophageal varix, Hepatocellular carcinoma OMIM:619463
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Inflammation of the large intestine, Gastritis, Diarrhea OMIM:618108
Methimazole Embryofetopathy
Esophageal atresia, Tracheoesophageal fistula, Intrauterine growth retardation ORPHA:1923
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Smith-Lemli-Opitz Syndrome
Micrognathia, Hypertonia, Gastroesophageal reflux, Advanced eruption of teeth, Low-set, posterior... ORPHA:818
Coffin-Siris Syndrome 1
Conical tooth, Gait ataxia, High palate, Short philtrum, Compulsive behaviors, Microdontia, Spina... OMIM:135900
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Gastroesophageal reflux, Otitis media, Compulsive behaviors, Conductive hearing ... ORPHA:353281
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia OMIM:614526
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Hallermann-Streiff Syndrome
Natal tooth, Hyperactivity, Selective tooth agenesis, Proportionate short stature, Micrognathia, ... OMIM:234100
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Underfolded helix, Short stature, Micrognathia,... OMIM:268400
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula, Growth delay, Hearing impairment ORPHA:77298
Singleton-Merten Syndrome 1
Waddling gait, Thin upper lip vermilion, Short stature, Hypoplasia of the maxilla, Carious teeth,... OMIM:182250
Aspergillosis
Sinusitis, Abnormal esophagus morphology ORPHA:1163
Pachyonychia Congenita
Natal tooth, Angular cheilitis, Ear pain, Advanced eruption of teeth, Oral leukoplakia ORPHA:2309
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Esophageal varix, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadoc... ORPHA:309854
Incontinentia Pigmenti
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Supernumerary nipple... ORPHA:464
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding OMIM:606893
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... OMIM:305620
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Severe short stature OMIM:112350
Adams-Oliver Syndrome 6
Esophageal varix OMIM:616589
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Immunodeficiency 23
Somatic sensory dysfunction, Ataxia, Esophageal stricture, Sensorineural hearing impairment, High... OMIM:615816
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Pallister-Hall Syndrome
Thyroid dysgenesis, Natal tooth, Posteriorly rotated ears, Short stature, Decreased response to g... OMIM:146510
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Delayed eruption of teeth, Posteriorly rotated ears, Gingival overgrowth, ... OMIM:135500
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Short stature, Micrognathia, Growth delay, Ever... ORPHA:2067
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Micrognathia, Downturned corners of mouth, Gastroesophageal reflux, Severe sensor... OMIM:620186
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Posteriorly rotated ears, Intestinal malrotation, Hamartoma of ton... OMIM:269860
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Postnata... ORPHA:1465
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:314390
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Short stature, Hamartoma of tongue, Micrognathia, Unilateral alveo... ORPHA:2751
Barber-Say Syndrome
Delayed eruption of teeth, Abnormal pinna morphology, Wide mouth, Breast aplasia, Hypoplastic nip... ORPHA:1231
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Mixed hearing impairment, Delayed eruption of permanent teeth, Broad alveo... OMIM:218400
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Intrauterine growth retard... OMIM:620133
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Growth delay, Difficulty walking, Secondary hyperparathyroidism, Ename... OMIM:264700
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Carious teeth, Gingivitis, Periodontitis, Dysphagia, Oral leu... OMIM:173650
Arteriosclerosis, Severe Juvenile
Gastric ulcer, Short stature, Delayed puberty OMIM:208060
Cholesteryl Ester Storage Disease
Death in infancy, Diarrhea, Esophageal varix, Vomiting, Steatorrhea OMIM:278000
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Hypoplastic sweat glands, Short philtrum, Cleft palate OMIM:617337
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Enamel hypoplasia, Short stature, Pseudohypoparathyroidism OMIM:612462
Osteogenesis Imperfecta
Abnormality of dental color, Micrognathia, Loss of ambulation, Short stature, Rhizomelia, Ataxia,... ORPHA:666
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Abnormality of the d... ORPHA:221008
Cornelia De Lange Syndrome
Micrognathia, Downturned corners of mouth, Hypertonia, High palate, Gastroesophageal reflux, Comp... ORPHA:199
Floating-Harbor Syndrome
Hypoplasia of the maxilla, Oligodontia, Gastroesophageal reflux, Short philtrum, Compulsive behav... ORPHA:2044
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Micrognathia, Tooth malposit... ORPHA:2484
Glycogen Storage Disease Iv
Esophageal varix OMIM:232500
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Short stature, Postnatal growth retardation, Difficulty walking, Secon... ORPHA:289157
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Enamel hypoplasia, Short stature, Pseudohypoparathyroidism OMIM:103580
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Diarrhea, Esophageal varix, Hepatocellular adenoma, Polycystic ovaries, Growth del... ORPHA:264580
Progeroid Short Stature With Pigmented Nevi
Irregular dentition, Short stature, Sensorineural hearing impairment, Vomiting, Hypodontia, Delay... OMIM:176690
Benign Schwannoma
Intestinal polyposis, Hearing abnormality, Vertigo, Vestibular schwannoma, Abnormal parotid gland... ORPHA:252164
Wolfram Syndrome 2
Sensorineural hearing impairment, Gastric ulcer OMIM:604928
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Short stature, Den... OMIM:300990
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, High palate, Persistence of primary teeth OMIM:619752
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Anal atresia, Cleft palate, Cryptorchidism ORPHA:95706
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Delayed eruption of teeth, Hypopituitarism, Sinusitis,... ORPHA:811
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Vocal cord paralysis, Anteriorly placed anus, Hypertoni... ORPHA:798
Cleidocranial Dysplasia 1
Short stature, Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, nar... OMIM:119600
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Charge Syndrome
Hypoplasia of the semicircular canal, Gastroesophageal reflux, Compulsive behaviors, Low-set, pos... ORPHA:138
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Violent behavior, Broad-based gait, Uplifted earlobe, Cleft lip, Thick... OMIM:280000
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Short stature, Dental crowding, Micrognathia, Hydrocele te... OMIM:145420
Recon Progeroid Syndrome
Attached earlobe, Prominence of the premaxilla, Dental crowding, Short stature, Growth delay, Mic... OMIM:620370
3M Syndrome
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Protruding ear, Ever... ORPHA:2616
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Paralysis, Sensorineural hearing impairment, Spastic paraplegia, Esophageal var... ORPHA:2072
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Chst3-Related Skeletal Dysplasia
Waddling gait, Delayed eruption of teeth, Rhizomelia, Disproportionate short-trunk short stature,... ORPHA:263463
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Abnormality of the d... ORPHA:221016
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Cleft palate, Gingivitis, Chronic otitis... ORPHA:2314
Cockayne Syndrome
Progressive gait ataxia, Hypertonia, Gastroesophageal reflux, Intention tremor, Ataxia, Abnormal ... ORPHA:191
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Short stature, Decreased response to growth hormone stimulation test, ... ORPHA:79443
Fanconi Anemia, Complementation Group L
Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Growth delay, Anotia, ... OMIM:614083
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Posteriorly rotated ears, Gingival overgrowth, Narrow palate, Anteriorly placed anus... OMIM:123790
Vacterl With Hydrocephalus
Microtia, third degree, Micrognathia, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistu... ORPHA:3412
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, Gastroesophageal reflux, High palate, Otitis media, Compulsive beh... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, Gastroesophageal reflux, High palate, Otitis media, Compulsive beh... ORPHA:353277
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Fac... OMIM:259710
Stickler Syndrome
Short stature, Abnormal dental enamel morphology, Malar flattening, Micrognathia, Hypoplasia of t... ORPHA:828
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Esophageal varix, Neonatal death, Pancreatic cysts OMIM:263200
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Cryp... OMIM:225500
Bent Bone Dysplasia Syndrome 1
Natal tooth, Micrognathia, Gingival overgrowth, Low-set ears, Malar flattening OMIM:614592
Feingold Syndrome Type 1
Jejunal atresia, Short stature, Micrognathia, Esophageal atresia, Gastrointestinal atresia, Senso... ORPHA:391641
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth ORPHA:375
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Odontomicronychial Dysplasia
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... ORPHA:1811
Mirage Syndrome
Short stature, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Paraplegia, Gastroesophage... OMIM:617053
Dyskeratosis Congenita, Autosomal Dominant 2
Short stature, Abnormality of the dentition, Esophageal stricture, Chronic diarrhea, Oral leukopl... OMIM:613989
Brachydactyly, Type B1
Wide anterior fontanel, Delayed eruption of permanent teeth OMIM:113000
Spondyloenchondrodysplasia
Delayed eruption of teeth, Short stature, Decreased response to growth hormone stimulation test, ... ORPHA:1855
Feingold Syndrome 1
Jejunal atresia, Posteriorly rotated ears, Hearing impairment, Micrognathia, Esophageal atresia, ... OMIM:164280
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Robinow Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Short stature, Dental crowding, Micrognathia,... ORPHA:97360
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Short stature, Decreased response to growth hormone stimulation test, ... ORPHA:94089
Incontinentia Pigmenti
Delayed eruption of teeth, Short stature, Supernumerary nipple, Conical tooth, Oligodontia, Breas... OMIM:308300
Cole-Carpenter Syndrome
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Micrognathia, Intrau... ORPHA:2050
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Hypertonia, Esophageal varix, Hemiparesis ORPHA:974
Maternal Phenylketonuria
Hyperactivity, Micrognathia, Esophageal atresia, High palate, Long philtrum, Hypoplastic helices,... ORPHA:2209
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Stillbirth, Gait... OMIM:309350
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Short stature, Malabsorption, Sensorineural hearing impairment, Growth... ORPHA:289176
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Short stature, Selective tooth agenesis, Abnormal dental enamel morpho... ORPHA:2909
Kindler Epidermolysis Bullosa
Abnormal dental enamel morphology, Premature loss of primary teeth, Carious teeth, Esophageal str... ORPHA:2908
Cockayne Syndrome A
Mandibular prognathia, Short stature, Abnormal pinna morphology, Abnormal auditory evoked potenti... OMIM:216400
Lethal Acantholytic Erosive Disorder
Natal tooth, Abnormal pinna morphology, Cleft palate, Abnormal helix morphology, Intrauterine gro... ORPHA:158687
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Short stature, Decreased response to growth hormone stimulation test, ... ORPHA:79444
Cockayne Syndrome B
Mandibular prognathia, Severe short stature, Abnormal pinna morphology, Ataxia, Abnormal auditory... OMIM:133540
Classic Homocystinuria
Gastrointestinal hemorrhage, Dental crowding, Anorexia, Hemiplegia/hemiparesis, Esophageal varix,... ORPHA:394
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Trisomy 18
Low-set, posteriorly rotated ears, Microretrognathia, Short stature, Esophageal atresia, Cryptorc... ORPHA:3380
Immunodeficiency 49
Natal tooth, Posteriorly rotated ears, Micrognathia, Spastic tetraplegia, Short philtrum OMIM:617237
Caroli Disease
Cholangiocarcinoma, Anorexia, Esophageal varix, Vomiting, Cholelithiasis, Nausea ORPHA:53035
Wilson Disease
Hypoparathyroidism, Poor motor coordination, Hepatocellular carcinoma, Tremor, Hypoesthesia, Rigi... OMIM:277900
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Sensorineural hearing impairment, Growth delay, Delayed eruption of ... OMIM:619269
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... OMIM:618727
Microphthalmia, Syndromic 3
Short stature, Anterior pituitary hypoplasia, Postnatal growth retardation, Esophageal atresia, S... OMIM:206900
Dyskeratosis Congenita, Autosomal Recessive 1
Microdontia, Esophageal stricture, Carious teeth, Oral leukoplakia OMIM:224230
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Short stature, De... OMIM:268310
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture ORPHA:158673
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Hardikar Syndrome
Short stature, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Vertigo, E... OMIM:301068
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Carious teeth, Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis... ORPHA:79259
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of permanent teeth, Short phi... ORPHA:521445
Cartilage-Hair Hypoplasia
Anal stenosis, Aganglionic megacolon, Absent pubertal growth spurt, Malabsorption, Esophageal atr... OMIM:250250
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth, Polycystic ovaries ORPHA:2348
Osteopetrosis With Renal Tubular Acidosis
Short stature, Micrognathia, Persistence of primary teeth, Abnormality of the dentition, Thick lo... ORPHA:2785
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Inability to walk, Deep philtrum, Large earlobe, Hypertonia, High pala... ORPHA:1675
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Esophageal varix ORPHA:367
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Functional intestinal ... ORPHA:199276
Gabriele-De Vries Syndrome
Waddling gait, Abnormality of upper lip vermillion, Posteriorly rotated ears, Decreased response ... ORPHA:506358
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Natal tooth OMIM:609638
Pachyonychia Congenita 2
Natal tooth, Oral leukoplakia, Angular cheilitis OMIM:167210
Fryns Syndrome
Microretrognathia, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Tent... OMIM:229850
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Ataxia, Aphthous ulcer, Esophageal varix, Oral ulcer, Agitation, Recurrent sinusitis, Recurrent o... OMIM:615688
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Persistence of primary teeth, Postnatal growth retardation, Carious teeth, Growth ... ORPHA:93325
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Cryptor... ORPHA:289
Cholestasis, Progressive Familial Intrahepatic, 8
Bile duct proliferation, Esophageal varix OMIM:619662
Hallermann-Streiff Syndrome
Natal tooth, Proportionate short stature, Micrognathia, Abnormality of the dentition, High, narro... ORPHA:2108
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Short stature, Carious teeth, Disproportionate short-trunk short statu... OMIM:253200
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Posteriorly rotated ears, Short stature, Asymmetry of the ears, Persis... OMIM:300166
Monosomy 9Q22.3
Delayed eruption of teeth, Hyperactivity, Ovarian fibroma, Odontogenic keratocysts of the jaw, Na... ORPHA:77301
Cleidocranial Dysplasia 2
Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera... OMIM:620099
Wrinkly Skin Syndrome
Delayed eruption of teeth, Short stature, Postnatal growth retardation, Cryptorchidism, Carious t... ORPHA:2834
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Downturned corners of mouth, Hypertonia, Hypoplasia of the thymus, Small earlobe, I... OMIM:264090
Arima Syndrome
Ataxia, Esophageal varix, Growth delay, Wide mouth, Polydipsia OMIM:243910
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Gastrointestinal dys... ORPHA:2152
Ramon Syndrome
Delayed eruption of teeth, Short stature, Gingival fibromatosis, Narrow palate, Hearing impairment OMIM:266270
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... OMIM:619503
Adams-Oliver Syndrome 5
Esophageal varix OMIM:616028
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Cirrhosis, Familial
Esophageal varix OMIM:215600
Focal Dermal Hypoplasia
Delayed eruption of teeth, Mixed hearing impairment, Short stature, Intestinal malrotation, Super... OMIM:305600
Blomstrand Lethal Chondrodysplasia
Natal tooth, Rhizomelia, Micrognathia, Protruding tongue, Low-set ears, Long philtrum, Malar flat... ORPHA:50945
Senior-Boichis Syndrome
Aggressive behavior, Esophageal varix, Agitation, Attention deficit hyperactivity disorder, Polyd... ORPHA:84081
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairm... OMIM:601812
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Short stature, Uplifted earlobe, Supernumerary ... OMIM:235730
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Polydipsia, Micrognathia, Biliary hyperplasia, P... ORPHA:731
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Short stature, Micrognathia, Hypoplasia of the maxilla, Gingival overg... OMIM:259600
Endocrine-Cerebroosteodysplasia
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Cryptorchidism, Low-set ears, T... OMIM:612651
Camurati-Engelmann Disease
Waddling gait, Delayed eruption of teeth, Ataxia, Anorexia, Carious teeth, Craniofacial osteoscle... ORPHA:1328
Ethylene Glycol Poisoning
Gastritis, Ataxia, Slurred speech, Addictive alcohol use, Myoclonus, Vomiting, Nausea ORPHA:31826
Chronic Graft Versus Host Disease
Anorexia, Esophageal stricture, Diarrhea, Xerostomia, Abnormal esophagus morphology, Gastroesopha... ORPHA:99921
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Stapes ankylosis, Delayed eruption of teeth, Short stature, Absent malleus... OMIM:614188
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Adeno... ORPHA:3353
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Abno... ORPHA:261537
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Underdeveloped antitragus, Abnormality of the dentition, Abnormal anti... ORPHA:2036
Meckel Syndrome, Type 1
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Micrognathia, Cle... OMIM:249000
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, High palate, Gastroesop... ORPHA:79500
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Fanconi Anemia, Complementation Group D2
Short stature, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula, Low-set ears, Atten... OMIM:227646
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Perianal abscess, Diarrhea, Oral ulcer, Chronic constipation, Inflammation of ... OMIM:301074
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short stature, Gingival overgrowth, Rhizomelic arm shortening, Hearing... ORPHA:508542
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Narrow mouth, Enamel ... ORPHA:79408
Rajab Interstitial Lung Disease With Brain Calcifications 1
Short stature, Intestinal malrotation, Esophageal varix, Growth delay, Gastroesophageal reflux, H... OMIM:613658
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Micrognathia, Esophageal atresia, Cleft lip, Tracheoesophageal fistula, C... OMIM:265380
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Tremor, Abnormality of the ear, Downturned... ORPHA:3455
Restrictive Dermopathy 1
Natal tooth, Micrognathia, Wide anterior fontanel, Submucous cleft hard palate, Temporomandibular... OMIM:275210
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Waddling gait, Delayed eruption of teeth, Rhizomelia, Short stature, Microtia, High palate, Widel... OMIM:143095
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Posteriorly rotated ears, Hamartoma of tongue, Micrognathia, Cryp... OMIM:615948
Genitopatellar Syndrome
Delayed eruption of teeth, Anal stenosis, Micrognathia, Cryptorchidism, Malrotation of small bowe... OMIM:606170
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Cholelithiasis, Esophageal varix, Gastrointestinal hemorrhage ORPHA:774
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Abno... ORPHA:261552
Wrinkly Skin Syndrome
Microretrognathia, Delayed eruption of teeth, Short stature, Carious teeth, Cryptorchidism, Wide ... OMIM:278250
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Advanced eruption of teeth, Micrognathia, Polycystic ovaries ORPHA:280365
Dyskeratosis Congenita, X-Linked
Decreased testicular size, Short stature, Ataxia, Carious teeth, Cryptorchidism, Esophageal stric... OMIM:305000
Fgfr2-Related Bent Bone Dysplasia
Overfolding of the superior helices, Natal tooth, Micrognathia, Gingival overgrowth, Low-set ears... ORPHA:313855
Pallister-Killian Syndrome
Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Hypertonia, Bifid uvula, Rhizom... OMIM:601803
Charge Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin deficiency, Par... OMIM:214800
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Esophageal stricture, Diarrhea, Dysphagia ORPHA:36426
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Pallister-Hall Syndrome
Gonadotropin deficiency, Paroxysmal bursts of laughter, Bifid uvula, Low-set, posteriorly rotated... ORPHA:672
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Premature loss of primary teeth, Tremor, Growth delay, Otitis media, H... ORPHA:667
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Lysosomal Acid Lipase Deficiency
Diarrhea, Esophageal varix, Vomiting, Steatorrhea ORPHA:275761
Caroli Syndrome
Cholangiocarcinoma, Hematemesis, Esophageal varix, Melena, Abnormal ductus choledochus morphology ORPHA:480520
Restrictive Dermopathy
Natal tooth, Micrognathia, Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard ... ORPHA:1662
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Abnormal earlobe morphology, Duodenal ste... ORPHA:141127
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Diarrhea, Oral ulcer, Colitis, Vomiting, An... OMIM:619381
Lacrimoauriculodentodigital Syndrome 1
Lacrimal gland aplasia, Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of pr... OMIM:149730
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Abnormal oral mucosa morphology, Esophageal stricture, Gastrointestinal i... ORPHA:79404
Sotos Syndrome
Aganglionic megacolon, Aggressive behavior, Tremor, Cryptorchidism, No permanent dentition, Poor ... ORPHA:821
Specc1L-Related Hypertelorism Syndrome
Cryptorchidism, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Abnormal hel... ORPHA:1519
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth, Thyroid C cell hyperplasia OMIM:300952
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Hyperparathyroidism OMIM:620366
Noonan Syndrome 1
Male infertility, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypogonadism OMIM:163950
Biliary, Renal, Neurologic, And Skeletal Syndrome
Short stature, Anterior pituitary hypoplasia, Esophageal varix, Protruding ear, Gastroesophageal ... OMIM:619534
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula ORPHA:95430
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Rhizomelia, Hypoplasia of the nasal bone, Hypopl... ORPHA:93357
Vater/Vacterl Association
Postnatal growth retardation, Esophageal atresia, Tracheoesophageal fistula, Intrauterine growth ... OMIM:192350
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micrognathia, Cleft upper lip, Esophageal atresia, Cryptorchidism, Ectopic anus, Disproportionate... ORPHA:93271
Alström Syndrome
Abnormality of dental color, Decreased response to growth hormone stimulation test, Hypoplasia of... ORPHA:64
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Primary hypothyroidism, Delayed puberty, Male hypogonadism OMIM:219800
Cystic Fibrosis
Male infertility OMIM:219700

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 Slc4a2

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 Slc4a2.

No publications found that use IMPC mice or data for Slc4a2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Slc4a2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc4a2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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