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Gene: Ubn2 MGI:2444236

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Gene Summary

Name:
ubinuclein 2
Synonyms:
D130059P03Rik,  2900060J04Rik,  6030408G03Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
anophthalmia Ubn2em1(IMPC)Tcp HOM E18.5 0.00
abnormal embryo size Ubn2em1(IMPC)Tcp HOM E18.5 0.00
abnormal head shape Ubn2em1(IMPC)Tcp HOM E18.5 0.00
pallor Ubn2em1(IMPC)Tcp HOM E18.5 0.00
exencephaly Ubn2em1(IMPC)Tcp HOM E18.5 0.00
abnormal head size Ubn2em1(IMPC)Tcp HOM E18.5 0.00
abnormal eyelid fusion Ubn2em1(IMPC)Tcp HOM E18.5 0.00
male infertility Ubn2em1(IMPC)Tcp HOM Early adult 0.00
decreased mean corpuscular hemoglobin Ubn2em1(IMPC)Tcp HET Early adult 1.31×10-06
decreased mean corpuscular hemoglobin concentration Ubn2em1(IMPC)Tcp HET   Early adult 9.21×10-05
preweaning lethality, incomplete penetrance Ubn2em1(IMPC)Tcp HOM   Early adult 0.00
abnormal facial morphology Ubn2em1(IMPC)Tcp HOM E18.5 0.00
abnormal embryo size Ubn2em1(IMPC)Tcp HET E18.5 0.00
decreased exploration in new environment Ubn2em1(IMPC)Tcp HET Early adult 9.22×10-10
protruding tongue Ubn2em1(IMPC)Tcp HOM E18.5 0.00

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.

Eye Morphology

Images Ophthalmoscopy

127 Images

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Eye Morphology

Images Slit Lamp

118 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Gross Morphology Embryo E18.5

Images

91 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Gross Pathology and Tissue Collection

Images

14 Images

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Histopathology

Images

5 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Ubn2 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.

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

The table below shows human diseases predicted to be associated to Ubn2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia 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
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate,... OMIM:619452
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom... OMIM:611638
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
9q subtelomeric deletion syndrome
Synophrys, Microcephaly, Midface retrusion, Protruding tongue DECIPHER:52
Spermatogenic Failure 17
Male infertility OMIM:617214
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
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
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
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 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
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
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
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
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 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect, Bilateral cleft lip and palate OMIM:600776
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma OMIM:616428
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ... ORPHA:846
Cerebrooculonasal Syndrome
Epicanthus, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Brachycephaly, Upslanted palpebral fi... ORPHA:66625
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Oculocerebrocutaneous Syndrome
Anophthalmia, Orbital encephalocele, Orbital cyst, Cleft palate, Eyelid coloboma, Microphthalmia OMIM:164180
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Protruding tongue, Brachycephaly, Gingival overgrowth, Wide mouth, Horizontal eyebr... OMIM:618797
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
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
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
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
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Microcephaly, Submucous cleft hard palate, Plagiocephaly, Wid... OMIM:618106
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Skull asymmetry, Thin ... OMIM:612938
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ... ORPHA:1104
Ring Chromosome 22 Syndrome
Epicanthus, Protruding tongue, Microcephaly, Thick vermilion border, Dolichocephaly, Midface retr... ORPHA:1446
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Microcephaly, Brachycephaly, Upslanted palpebral fissure, High palate, Narrow mouth, ... ORPHA:2528
Down Syndrome
Epicanthus, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower l... ORPHA:870
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Protruding tongue, Microcephaly, Synophrys, Brachyceph... OMIM:610253
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Microcephaly, Cleft upper lip, Cleft palate... OMIM:613885
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Anophthalmia, Abnormal spaced incisors, Synophrys, Thick vermilion border, Everted l... ORPHA:411986
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Protruding tongue, Prominent eyelashes, Gingival overgrowth, Upslanted palpebral fi... OMIM:619179
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Cerebrooculonasal Syndrome
Anophthalmia, Brachycephaly, Downturned corners of mouth, High palate, Iris coloboma, Encephaloce... OMIM:605627
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Protruding tongue, Diastema, Microcephaly, Gingival overgrowth, Brachycephaly, Wide ... OMIM:212066
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Microphthalmia, Isolated 8
Entropion, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthal... OMIM:615113
Raine Syndrome
Natal tooth, Highly arched eyebrow, Protruding tongue, Microcephaly, Hydrocephalus, Brachycephaly... OMIM:259775
Kleefstra Syndrome Due To 9Q34 Microdeletion
Flat occiput, Highly arched eyebrow, Protruding tongue, Microcephaly, Synophrys, Brachycephaly, D... ORPHA:96147
Acrocallosal Syndrome
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Prominent palatine ridges, Bi... OMIM:200990
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Ankyloblepharon OMIM:611038
Icf Syndrome
Communicating hydrocephalus, Epicanthus, Malabsorption, Protruding tongue, Macroglossia, Umbilica... ORPHA:2268
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Epicanthus, Protruding tongue, Microcephaly, Synophrys, Upper eyelid edema, Everted lower lip ver... OMIM:617804
Non-Distal Duplication 10Q
Frontal bossing, Microcephaly, Brachycephaly, Everted lower lip vermilion, High palate, Blepharop... ORPHA:1695
Joubert Syndrome 1
Epicanthus, Highly arched eyebrow, Microcephaly, Protruding tongue, Optic disc coloboma, Occipita... OMIM:213300
Solitary Median Maxillary Central Incisor
Anophthalmia, Cleft upper lip, Microcephaly, Prominent median palatal raphe, Coloboma, Holoprosen... OMIM:147250
Angelman Syndrome
Flat occiput, Protruding tongue, Brachycephaly, Wide mouth, Macroglossia, Widely spaced teeth, Se... OMIM:105830
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Angelman Syndrome Due To A Point Mutation
Flat occiput, Protruding tongue, Cessation of head growth, Wide mouth, Widely spaced teeth, Secon... ORPHA:411511
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate OMIM:615524
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Protruding tongue, Cessation of head growth, Wide mouth, Widely spaced teeth, Secondary microcephaly ORPHA:98795
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Protruding tongue, Hydrocephalus, Gingival overgrowth, Umbilical hernia,... ORPHA:93400
Hydrolethalus
Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cle... ORPHA:2189
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Narrow mouth, Upslanted palpebral fissure, Excessive wrinkled skin, Progressiv... OMIM:608779
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Epicanthus, Malabsorption, Protruding tongue OMIM:242860
Trisomy 13
Median cleft lip, Anophthalmia, Abnormality of the dentition, Abnormal eyelash morphology, High, ... ORPHA:3378
Developmental And Epileptic Encephalopathy 31B
Protruding tongue, Almond-shaped palpebral fissure, Gingival overgrowth, Secondary microcephaly, ... OMIM:620352
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Epicanthus, Protruding tongue, Diastema, Microcephaly, Thick lower lip vermilion, Widely-spaced m... OMIM:301040
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Flat occiput, Microcephaly, Brachycephaly, Long philtrum, Smooth philtrum ORPHA:46
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Protruding tongue, Wide mouth, Upslanted palpebral fissure, High pala... OMIM:618580
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Palpebral edema, Protruding tongue, Microcephaly, Deep philtrum, Premature ... ORPHA:99843
Potocki-Shaffer Syndrome
Turricephaly, Epicanthus, Telecanthus, Parietal foramina, Brachycephaly, Downturned corners of mo... OMIM:601224
Fontaine Progeroid Syndrome
Redundant skin, High, narrow palate, Synophrys, Brachycephaly, Anteriorly placed anus, Oligodonti... OMIM:612289
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Flat occiput, Protruding tongue, Cessation of head growth, Wide mouth, Widely spaced teeth, Secon... ORPHA:98794
Intellectual Developmental Disorder, Autosomal Dominant 26
Ptosis, Epicanthus, Thick eyebrow, Highly arched eyebrow, Microcephaly, Deep philtrum, Brachyceph... OMIM:615834
Gómez-López-Hernández Syndrome
Turricephaly, Telecanthus, Hydrocephalus, Brachycephaly, Thin vermilion border, Midface retrusion ORPHA:1532
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Whistling Face Syndrome, Recessive Form
Ptosis, Epicanthus, Telecanthus, Whistling appearance, High palate, Narrow mouth, Blepharophimosi... OMIM:277720
Microphthalmia With Limb Anomalies
Frontal bossing, Anophthalmia, Cleft upper lip, Abnormal eyelash morphology, Deep philtrum, Cleft... OMIM:206920
Clark-Baraitser Syndrome
Thin upper lip vermilion, Epicanthus, Exaggerated cupid's bow, Microcephaly, Brachycephaly, Downt... OMIM:617752
Dermatitis, Atopic
Dry skin, Conjunctivitis, Pallor, Facial erythema OMIM:603165
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Upper eyelid coloboma, Anteriorly pla... ORPHA:2717
Marshall-Smith Syndrome
Open mouth, Gingival overgrowth, Craniosynostosis, Protruding tongue ORPHA:561
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epicanthus, Flat occiput, Redundant neck skin, Protruding tongue, High, narrow palate, Upslanted ... OMIM:214100
Peripheral Cone Dystrophy
Pallor OMIM:609021
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Microcephaly, Protruding tongue, Syn... OMIM:617062
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Pierpont Syndrome
Smooth philtrum, Thin upper lip vermilion, Telecanthus, Brachycephaly, Narrow palpebral fissure, ... ORPHA:487825
Proboscis Lateralis
Anophthalmia, Abnormal morphology of bony orbit of skull, Orofacial cleft, Eyelid coloboma, High ... ORPHA:141099
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Optic nerve hypoplasia, Microcephaly, Brachycephaly, Lambdoidal craniosynostosis, S... OMIM:618736
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Angelman Syndrome
Flat occiput, Microcephaly, Protruding tongue, Wide mouth, Widely spaced teeth, Ptosis ORPHA:72
Primary Lateral Sclerosis, Juvenile
Difficulty in tongue movements, Pallor OMIM:606353
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Thrombocytopenia ORPHA:848
Cornelia De Lange Syndrome 2
Thin upper lip vermilion, Thick eyebrow, Highly arched eyebrow, Microcephaly, Synophrys, Brachyce... OMIM:300590
Frontofacionasal Dysplasia
Encephalocele, Telecanthus, Blepharophimosis, Non-midline cleft lip, Brachycephaly, Cleft palate,... ORPHA:1791
Kleefstra Syndrome 2
Microcephaly, Plagiocephaly, Everted lower lip vermilion, Midface retrusion, Bifid uvula, Thick e... OMIM:617768
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Acute Myelomonocytic Leukemia
Abnormality of the gingiva, Pallor ORPHA:517
Juvenile Sialidosis Type 2
Umbilical hernia, Gingival overgrowth, Protruding tongue ORPHA:93399
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Telecanthus, Conical tooth, Abnormality of the dentition, Brachyc... ORPHA:228390
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcephaly, High palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:139471
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, Protruding tongue, Upslanted palpebral fissure, High palate, Short philtrum OMIM:300963
Holoprosencephaly
Flat occiput, Anophthalmia, Deep philtrum, Synophrys, Holoprosencephaly, Chorioretinal coloboma, ... ORPHA:2162
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
X-Linked Dystonia-Parkinsonism
Blepharospasm, Protruding tongue ORPHA:53351
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... ORPHA:54028
Optic Atrophy 1
Pallor OMIM:165500
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Craniosynostosis 6
Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachycephaly, Plagiocephaly, Ri... OMIM:616602
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Anteriorly placed anus, Eyelid colobo... OMIM:248450
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Frontal bossing, Premature loss of primary teeth, Microcephaly, Br... OMIM:617364
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Mi... ORPHA:77298
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Trisomy 1Q
Frontal bossing, Anophthalmia, Hydrocephalus, Cleft palate, Narrow mouth, Downslanted palpebral f... ORPHA:261344
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Chromosome 3Q13.31 Deletion Syndrome
Epicanthus, Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, High palate, Short philtrum, ... OMIM:615433
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Ptosis, Flat occiput, Epicanthus, Highly arched eyebrow, Microcephaly, ... OMIM:613792
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Cockayne Syndrome Type 2
Anophthalmia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely spaced p... ORPHA:90322
8Q12 Microduplication Syndrome
Epicanthus, Telecanthus, Highly arched eyebrow, Narrow mouth, Brachycephaly, Everted lower lip ve... ORPHA:228399
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Telecanthus, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilat... OMIM:607597
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Camptodactyly Syndrome, Guadalajara Type 1
Epicanthus, Telecanthus, Spina bifida, Microcephaly, Open bite, Highly arched eyebrow, Synophrys,... ORPHA:1327
Degcags Syndrome
Synophrys, High palate, Pallor, Hiatus hernia, Abnormal eyelash morphology, Thick vermilion borde... OMIM:619488
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor, Ptosis OMIM:613561
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Abnormal size of the palpebral fissures, Dolichocephaly, High, narrow palate, Plagi... ORPHA:1101
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Brachycephaly, Cleft palate, Upper eyelid coloboma, Microphthalmia OMIM:613456
Breath-Holding Spells
Pallor OMIM:607578
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Frontal bossing, Thin upper lip vermilion, Epicanthus, Pierre-Robin sequence, Glossoptosis, Narro... OMIM:613604
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Frontofacionasal Dysplasia
Telecanthus, Cleft upper lip, Blepharophimosis, Absent inner eyelashes, Brachycephaly, Orofacial ... OMIM:229400
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Microcephaly, Protruding tongue OMIM:619580
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Narrow mouth OMIM:230600
Cebalid Syndrome
Turricephaly, Highly arched eyebrow, Platystencephaly, Brachycephaly, Plagiocephaly, High palate,... OMIM:618774
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Synophrys, Gingival overgrowth, High palate, Micro... OMIM:619777
Nabais Sa-De Vries Syndrome, Type 1
Epicanthus, Telecanthus, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Brachycephaly,... OMIM:618828
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly, Microcephaly ORPHA:2898
Down Syndrome
Epicanthus, Redundant neck skin, Aganglionic megacolon, Protruding tongue, Brachycephaly, Duodena... OMIM:190685
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Blepharophimosis... OMIM:141300
Walker-Warburg Syndrome
Anophthalmia, Microcephaly, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Microphthal... ORPHA:899
Chopra-Amiel-Gordon Syndrome
Thin upper lip vermilion, Microcephaly, Almond-shaped palpebral fissure, Cleft lip, Pierre-Robin ... OMIM:619504
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Hypoplastic philtrum, Protrudin... OMIM:309580
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing, Synophrys, Dental crowding OMIM:619264
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Coloboma, Microphthalmia OMIM:610125
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Short lingual frenulum, Downturned corners of mouth, Short philtrum, Microdo... OMIM:617360
Oculocerebrofacial Syndrome, Kaufman Type
Absent eyebrow, Epicanthus, Flat occiput, Telecanthus, Microcephaly, Blepharophimosis, High, narr... ORPHA:2707
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis, Tented upper lip vermilion, Brachycephaly, Long philtrum OMIM:619972
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Long eyelashes, Long philtru... OMIM:618577
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Highly arched eyebrow, Microcephaly, Brachycephaly, Cleft palate, Narrow palpebr... OMIM:600325
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Microcephaly, Hydrocephalus, Agenesis of i... OMIM:610829
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Anophthalmia, Coloboma, Long eyelashes, Long philtrum, Microphthalmia, Cryptophthalmos OMIM:615877
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Lagophthalmos, Ectropion of lower eyelids, Neural tube defect, Eu... OMIM:119580
Catel-Manzke Syndrome
Highly arched eyebrow, Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Vulto-Van Silfhout-De Vries Syndrome
Frontal bossing, Epicanthus, Tented upper lip vermilion, Thick lower lip vermilion, Brachycephaly... OMIM:615828
Cataract-Intellectual Disability-Hypogonadism Syndrome
Microcephaly, Brachycephaly, Furrowed tongue, High palate, Short philtrum, Everted lower lip verm... ORPHA:1387
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig... ORPHA:314575
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Absent eyebrow, Anophthalmia, Dental crowding... OMIM:219000
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Highly arched eyebrow, Cleft palate, Plagiocephaly, Downturned corners of mouth, Ectopic anus, Sh... ORPHA:94066
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Flat occiput, Exencephaly, Brachycephaly, Eyelid coloboma, Long philtrum, Downslan... ORPHA:2211
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Fetal Trimethadione Syndrome
Epicanthus, Microcephaly, Synophrys, Brachycephaly, High palate, Intrauterine growth retardation,... ORPHA:1913
Richieri-Costa/Guion-Almeida Syndrome
Microcephaly, Cleft upper lip, Brachycephaly, Cleft palate, Eyelid coloboma, Palmoplantar cutis l... OMIM:268850
Frontonasal Dysplasia 2
Encephalocele, Telecanthus, Sparse eyelashes, Craniosynostosis, Conical tooth, Parietal foramina,... OMIM:613451
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Optic nerve hypoplasia, Thick lower lip vermilion, Cranial asymmetry, L... ORPHA:137634
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Monosomy 18P
Epicanthus, Microcephaly, Carious teeth, Brachycephaly, Cleft palate, Downturned corners of mouth... ORPHA:1598
Achondrogenesis, Type Ia
Turricephaly, Protruding tongue OMIM:200600
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, Microcephaly, Abnormal eyelid ... ORPHA:2526
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Deafness-Craniofacial Syndrome
Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Upslanted palpebral fissur... ORPHA:3241
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Orofaciodigital Syndrome Xix
Frontal bossing, Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow mo... OMIM:620107
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Crouzon Syndrome
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Narrow palate, Multiple suture crani... ORPHA:207
German Syndrome
Abnormal eyebrow morphology, Synophrys, Brachycephaly, Orofacial cleft, High palate, Everted lowe... ORPHA:2077
Cyclic Vomiting Syndrome
Pallor, Microcephaly OMIM:500007
Fraser Syndrome
Encephalocele, Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, Microcephaly, Myelo... ORPHA:2052
Holoprosencephaly 7
Flat occiput, Alobar holoprosencephaly, Synophrys, Holoprosencephaly, Shallow orbits, Parietal bo... OMIM:610828
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesopha... ORPHA:3412
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Synophrys, Brachycephaly, Wide mouth, Upslanted palpebral fissure, Ptosis OMIM:616083
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cleft palate, Plagioc... ORPHA:85284
Blomstrand Lethal Chondrodysplasia
Natal tooth, Long philtrum, Telecanthus, Protruding tongue ORPHA:50945
Developmental And Epileptic Encephalopathy 65
Plagiocephaly, Tented upper lip vermilion, Highly arched eyebrow, Microcephaly OMIM:618008
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Long eyelashes, Brachycephaly, Thick eyebrow ORPHA:1514
Leishmaniasis
Pallor, Abnormal oral mucosa morphology, Skin ulcer, Abnormal oral cavity morphology ORPHA:507
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Brachycephaly, Craniosynostosis OMIM:614416
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Distichiasis, High palate, Pallor, Microcephaly OMIM:600462
Meckel Syndrome
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Microcephaly, Hydrocephalus, Anenc... ORPHA:564
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Protruding tongue ORPHA:258
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Brachycephaly, Plagiocephaly, Macroglossia, Wide mouth, Coloboma, Everted lower ... OMIM:616789
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Highly arched eyebrow, Bilateral ptosis, Deep p... ORPHA:404440
Orofaciodigital Syndrome V
Unilateral ptosis, Frontal bossing, Thin upper lip vermilion, Median cleft lip, Aganglionic megac... OMIM:174300
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Orofaciodigital Syndrome Type 5
Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral... ORPHA:2919
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis, Furrowed tongue ORPHA:2743
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Failure of eruption of p... ORPHA:2250
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Hallermann-Streiff Syndrome
Selective tooth agenesis, High, narrow palate, Brachycephaly, High palate, Chorioretinal coloboma... OMIM:234100
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Epicanthus, Anophthalmia, Brachycephaly, Downturned corners of mouth, Downsl... ORPHA:264200
Cdags Syndrome
Frontal bossing, Ectropion, Sparse eyelashes, Sagittal craniosynostosis, Parietal foramina, Recto... OMIM:603116
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Matthew-Wood Syndrome
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis ORPHA:2470
Myasthenic Syndrome, Congenital, 10
Tongue atrophy, Ptosis OMIM:254300
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Narrow mouth, Optic disc coloboma, Brachyceph... ORPHA:1790
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microcephaly, Pallor, Microphthalmia, Intrauterine growth retardation OMIM:609053
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Cockayne Syndrome Type 1
Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely spaced prim... ORPHA:90321
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Thick eyebrow, Intestinal malrotation, Highly arched eyebrow, Microceph... OMIM:614701
Irida Syndrome
Abnormal intestine morphology, Pallor ORPHA:209981
Acrofrontofacionasal Dysostosis
Non-midline cleft lip, Brachycephaly, Cleft palate, Eyelid coloboma, Everted lower lip vermilion,... ORPHA:1784
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Microc... OMIM:601701
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Malabsorption, Abnormal eyelid morphology, Erythema, Cheilitis, Abno... ORPHA:37
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Microcephaly, Plagiocephaly, Up... OMIM:616579
Myopathic Ehlers-Danlos Syndrome
High, narrow palate, Pallor ORPHA:536516
Frontorhiny
Encephalocele, Epicanthus, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Microphth... ORPHA:391474
Microphthalmia, Syndromic 3
Frontal bossing, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Esophag... OMIM:206900
Lelis Syndrome
Carious teeth, Absent lower eyelashes, Furrowed tongue, Upslanted palpebral fissure, Hypodontia, ... ORPHA:140936
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Downslanted palpebral fissures, Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Ro... OMIM:192445
Developmental And Epileptic Encephalopathy 84
Epicanthus, Microcephaly, Synophrys, Thick lower lip vermilion, Plagiocephaly, Blepharophimosis, ... OMIM:618792
Holoprosencephaly-Craniosynostosis Syndrome
Epicanthus, Craniosynostosis, Microcephaly, Brachycephaly, Plagiocephaly, Upslanted palpebral fis... ORPHA:2163
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Bilateral Perisylvian Polymicrogyria
Intrauterine growth retardation, Microcephaly, Protruding tongue ORPHA:98889
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Highly arched eyebro... OMIM:239300
Retinitis Pigmentosa 51
Pallor OMIM:613464
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Microcephaly, Brachy... OMIM:619244
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Epicanthus, Thick lower lip vermilion, Dental maloccl... OMIM:157980
Microgastria-Limb Reduction Defect Syndrome
Frontal bossing, Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal ... ORPHA:2538
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Thick eyebrow, Anophthalmia, Remnants of the hyaloid vascular system, ... OMIM:300166
Skin Creases, Congenital Symmetric Circumferential, 1
Epicanthus, Microcephaly, Narrow mouth, Brachycephaly, Cleft palate, Upslanted palpebral fissure,... OMIM:156610
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Hartnup Disorder
Glossitis OMIM:234500
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Crouzon Syndrome
Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, High p... OMIM:123500
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Microcep... ORPHA:364577
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Frontal bossing, Epicanthus, Telecanthus, Dental crowding, Sparse eyel... OMIM:257850
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Glossoptosis, Biparietal narrowing, Chorioretinal coloboma, Blepharophimosis, Ptosis ORPHA:2031
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Epicanthus, Thick lower lip vermilion, Dental maloccl... ORPHA:2563
Chromosome 17P13.1 Deletion Syndrome
Turricephaly, Epicanthus, Telecanthus, Spina bifida, Microcephaly, Highly arched eyebrow, High, n... OMIM:613776
Osteogenesis Imperfecta, Type Xx
Tented upper lip vermilion, Highly arched eyebrow, Microcephaly, Brachycephaly, Narrow palate, Ag... OMIM:618644
Treacher-Collins Syndrome
Brachycephaly, Glossoptosis, Eyelid coloboma, High palate, Iris coloboma, Encephalocele, Branchia... ORPHA:861
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Muenke Syndrome
High, narrow palate, Hydrocephalus, Brachycephaly, Plagiocephaly, Coronal craniosynostosis, Ptosis ORPHA:53271
Stevenson-Carey Syndrome
Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Coloboma, Narrow mouth, Microp... OMIM:611961
Hereditary Folate Malabsorption
Pallor, Glossitis, Cheilitis ORPHA:90045
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Encephalocele, Tented upper lip vermilion, Epican... OMIM:619148
Charge Syndrome
Delayed eruption of teeth, Ptosis, Epicanthus, Anophthalmia, Highly arched eyebrow, Cleft upper l... ORPHA:138
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal nasolacrimal system morphology, Abnormal dental enamel morphology, Microce... ORPHA:2556
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Secondary microcephaly, Pallor OMIM:613839
Trisomy 8Q
Non-midline cleft lip, Myelomeningocele, Cleft palate, Orofacial cleft, Upslanted palpebral fissu... ORPHA:1752
Microphthalmia, Syndromic 6
Anophthalmia, Microcephaly, Orbital cyst, Brachycephaly, Cleft palate, Plagiocephaly, Coloboma, B... OMIM:607932
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula, Ectropion OMIM:615706
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Acquired Methemoglobinemia
Methemoglobinemia, Confusion ORPHA:464453
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Upslanted palpebral fiss... OMIM:613443
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Hamartoma of tongue, Cleft upper lip, Supernumerary tooth, Myelome... OMIM:311200
Microphthalmia With Limb Anomalies
Frontal bossing, Abnormal eyebrow morphology, Macrodontia, Cleft upper lip, Hydrocephalus, Cleft ... ORPHA:1106
Craniosynostosis 2
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... OMIM:604757
Fibular Hemimelia
Anophthalmia, Spina bifida, Craniosynostosis ORPHA:93323
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor, Ptosis ORPHA:13
Lig4 Syndrome
Epicanthus, Telecanthus, Microcephaly, Malabsorption, Erythema, Brachycephaly, Upslanted palpebra... ORPHA:99812
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Flat occiput, Intestinal malrotation, Bilateral cleft lip and palate, Upslanted palpebral fissure... ORPHA:2001
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Sparse eyelashes, Microcephaly, Sparse eyebrow, Unilateral microphthalm... OMIM:618874
Dravet Syndrome
Pallor ORPHA:33069
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Seckel Syndrome 2
Microdontia, Microphthalmia, Microglossia, Microcephaly OMIM:606744
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Ptosis OMIM:615636
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Synophrys, Brachycephaly, Downturned corners of mouth, High palate, Microdontia, L... OMIM:610759
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Frontal bossing, Epicanthus, Flat occiput, High, narrow palate, Submuc... ORPHA:2780
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Microcephaly, High, ... ORPHA:193
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Long palpebral fissure... ORPHA:531151
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Microphthalmia, Syndromic 9
Blepharophimosis, Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos OMIM:601186
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Joubert Syndrome 18
Lobulated tongue, Occipital encephalocele, Cleft palate, Intrauterine growth retardation OMIM:614815
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... ORPHA:137888
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Diastema, Deep philtrum, Talon cusp, Synophrys, Cleft palate, Plagiocephal... OMIM:605282
Carey-Fineman-Ziter Syndrome
Epicanthus, Aplasia/Hypoplasia of the tongue, Microcephaly, Pierre-Robin sequence, Cleft palate, ... ORPHA:1358
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Microcephaly OMIM:246450
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Microcephaly, Cleft palate, Pla... OMIM:614749
Myelofibrosis
Pallor, Purpura OMIM:254450
Distal Deletion 3P
Ptosis, Epicanthus, Telecanthus, Microcephaly, Brachycephaly, Cleft palate, Downturned corners of... ORPHA:1620
Incontinentia Pigmenti
Delayed eruption of teeth, Hypoplasia of the fovea, Conical tooth, Microcephaly, Erythema, Oligod... OMIM:308300
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Abnormal eyebrow morphology, Abnormal eyelid morphology ORPHA:2221
Fumarase Deficiency
Frontal bossing, Necrotizing enterocolitis, Microcephaly, Conjunctival icterus, High palate, Pallor OMIM:606812
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bo... OMIM:608670
Branchiooculofacial Syndrome
Ptosis, Telecanthus, Anophthalmia, Cleft upper lip, Malrotation of colon, Abnormality of the dent... OMIM:113620
Focal Dermal Hypoplasia
Delayed eruption of teeth, Anophthalmia, Intestinal malrotation, Cleft upper lip, Hiatus hernia, ... OMIM:305600
Diamond-Blackfan Anemia 1
Epicanthus, Cleft upper lip, Parietal foramina, Microcephaly, Cleft palate, Colon cancer, High pa... OMIM:105650
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Tented upper lip vermilion, Microcephaly, Cleft palate, Furrowed tongue, High palate,... OMIM:616449
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Dominant Beta-Thalassemia
Frontal bossing, Abnormality of the dentition, Skin ulcer, Upslanted palpebral fissure, Pallor ORPHA:231226
Branchioskeletogenital Syndrome
Synophrys, Brachycephaly, Anteriorly placed anus, Downturned corners of mouth, Eyelid coloboma, S... ORPHA:1299
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Au-Kline Syndrome
Craniosynostosis, Sagittal craniosynostosis, Lagophthalmos, Lipomyelomeningocele, Dental malocclu... OMIM:616580
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Lower eyelid coloboma, Clef... OMIM:616367
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microcephaly, Hydrocephalus, Buphthalmos, Coloboma, Hypoplasia of the retina, Everted lower lip v... OMIM:253280
Robinow-Sorauf Syndrome
Craniosynostosis, Bilateral ptosis, Plagiocephaly, Pansynostosis, Shallow orbits, Downslanted pal... OMIM:180750
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cleft lip, Cleft palate, Incompl... OMIM:616300
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Highly arched eyebrow, Lagophthalmos, Cleft palate, Furrowed tongue, Narrow mouth... OMIM:615065
Auriculocondylar Syndrome 1
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... OMIM:602483
Orofaciodigital Syndrome Iv
Epicanthus, Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High pa... OMIM:258860
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Bilateral microphthalmos, Microglossia, Cleft palate, Retinal colobo... ORPHA:2839
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Acrofrontofacionasal Dysostosis 1
Long eyebrows, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Oligodontia, Long eyelas... OMIM:201180
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Imerslund-Gräsbeck Syndrome
Pallor, Glossitis, Angular cheilitis ORPHA:35858
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Craniosynostosis, Microcephaly, Cleft palate, Furrowed tongue, Plagiocephaly, Downturned corners ... ORPHA:453499
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Microcephaly, Pierre-Robin sequence, Cleft palate, Upslanted palpebral ... OMIM:611209
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Frontal bossing, Turricephaly, Epicanthus, Aganglionic megacolon, Microcephaly, Hydrocephalus, Pl... OMIM:613603
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Agnathia-Otocephaly Complex
Aglossia, Cleft palate, Holoprosencephaly, Narrow mouth, Microglossia, Downslanted palpebral fiss... OMIM:202650
Cold Agglutinin Disease
Pallor ORPHA:56425
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Frontal bossing, Absent eyebrow, Abnormal dental morphology, Abnormal dental enamel morphology, P... ORPHA:85199
Hypomandibular Faciocranial Dysostosis
Pursed lips, Coronal craniosynostosis, Optic disc coloboma, Aglossia OMIM:241310
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Epicanthus, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morpholog... ORPHA:2759
American Trypanosomiasis
Aganglionic megacolon, Pallor ORPHA:3386
Letterer-Siwe Disease
Stomatitis, Pallor OMIM:246400
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Exagger... ORPHA:1507
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Gingival bleeding ORPHA:98870
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Retinitis Pigmentosa 75
Pallor OMIM:617023
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Cronkhite-Canada Syndrome
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... ORPHA:2930
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Intellectual Developmental Disorder, Autosomal Dominant 29
Frontal bossing, Thin upper lip vermilion, Ptosis, Dental crowding, Synophrys, Brachycephaly, Nar... OMIM:616078
Hallermann-Streiff Syndrome
Frontal bossing, Natal tooth, Telecanthus, Sparse eyelashes, Abnormality of the dentition, Microc... ORPHA:2108
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Telecanthus, Lip pit, Microcephaly, Brachycephaly, Hypodontia, Microphthalmia, I... ORPHA:1236
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Pallor OMIM:266200
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Glossoptosis, Midface retrusion, Cleft palate ORPHA:440354
Holzgreve Syndrome
Turricephaly, Aplasia/Hypoplasia of the tongue, Cleft palate, Intrauterine growth retardation, Bi... ORPHA:2167
Cleidocranial Dysplasia
Delayed eruption of teeth, Frontal bossing, Abnormal dental enamel morphology, Abnormality of the... ORPHA:1452
Cerebrocostomandibular Syndrome
Spina bifida, Microcephaly, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranence... ORPHA:1393
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Conjunctival icterus, Pallor OMIM:194380
Robinow Syndrome, Autosomal Dominant 3
Frontal bossing, Epicanthus, Telecanthus, Cleft lip, Dental malocclusion, Gingival overgrowth, Cl... OMIM:616894
Myopathy, Mitochondrial, And Ataxia
High palate, Pallor OMIM:617675
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Mohr Syndrome
Telecanthus, Median cleft lip, Accessory oral frenulum, Hydrocephalus, Cleft palate, Tongue nodul... OMIM:252100
Ramos-Arroyo Syndrome
Frontal bossing, Aganglionic megacolon, Carious teeth, Dacryocystitis, Xerostomia, Nasolacrimal d... ORPHA:1051
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Microcephaly, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia ORPHA:3201
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Shallo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Shallo... ORPHA:352665
1Q21.1 Microdeletion Syndrome
Frontal bossing, Epicanthus, Microcephaly, Hydrocephalus, High palate, Long philtrum, Microphthal... ORPHA:250989
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Monosomy 9P
Epicanthus, Highly arched eyebrow, Abnormality of the dentition, Microcephaly, Narrow mouth, Syno... ORPHA:261112
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:620269
Carey-Fineman-Ziter Syndrome 1
Epicanthus, Microcephaly, Lagophthalmos, Pierre-Robin sequence, Cleft palate, Plagiocephaly, Glos... OMIM:254940
Choreoacanthocytosis
Blepharospasm, Protruding tongue ORPHA:2388
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Lead Poisoning
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Depression, Attention deficit hypera... ORPHA:330015
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations, Progressive microcephaly OMIM:614678
Neuroocular Syndrome
Synophrys, Lens coloboma, Downturned corners of mouth, Widely spaced teeth, Torus palatinus, Iris... OMIM:619539
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Autosomal Dominant Robinow Syndrome
High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligodontia, Short ... ORPHA:3107
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Tay-Sachs Disease
Pallor OMIM:272800
Congenital Myopathy 13
Telecanthus, Microcephaly, Brachycephaly, Cleft palate, Downturned corners of mouth, High palate,... OMIM:255995
Hereditary Acrokeratotic Poikiloderma
Turricephaly, Premature loss of primary teeth, Abnormality of the dentition, Open bite, Erythema,... ORPHA:2907
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposis, Adenomatous colo... ORPHA:329971
Fanconi Anemia, Complementation Group C
Epicanthus, Anemic pallor, Microcephaly, Microphthalmia, Intrauterine growth retardation OMIM:227645
Charge Syndrome
Ptosis, Anal stenosis, Anophthalmia, Cleft upper lip, Microcephaly, Esophageal atresia, Tracheoes... OMIM:214800
Orofaciodigital Syndrome Type 1
Frontal bossing, Epicanthus, Median cleft lip, Telecanthus, Abnormal dental enamel morphology, Ac... ORPHA:2750
Hypoglossia-Hypodactylia
Epicanthus, Microglossia, Aglossia, Narrow mouth OMIM:103300
Elliptocytosis 1
Pallor OMIM:611804
Histiocytoid Cardiomyopathy
Hydrocephalus, Cleft palate, Pallor, Microphthalmia, Congenital aphakia ORPHA:137675
Orofaciodigital Syndrome Type 6
Frontal bossing, Epicanthus, Hamartoma of tongue, Highly arched eyebrow, Cleft palate, Midline no... ORPHA:2754
Waldenström Macroglobulinemia
Purpura, Pallor, Gingival bleeding, Malabsorption ORPHA:33226
Peroxisome Biogenesis Disorder 12A (Zellweger)
Epicanthus, Microcephaly, Hydrocephalus, Scaphocephaly, Cranial asymmetry OMIM:614886
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Retinal capillary hemangioma, Pallor ORPHA:29072
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Microcephaly, Sparse eyebrow, Hi... ORPHA:464738
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate, Microcephaly OMIM:618356
Sepsis In Premature Infants
Pallor, Enterocolitis, Petechiae, Purpura ORPHA:90051
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, Microcephaly, High, narrow... OMIM:309800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Frontal bossing, Broad eyebrow, Epicanthus, Microcephaly, Cleft lip, Furrowed tongue, Upslanted p... OMIM:616975
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Pierre-Robin sequence, Hydrocephalus, Cleft palate, Glossoptosis... ORPHA:90652
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Neurofaciodigitorenal Syndrome
Epicanthus, Abnormality of the philtrum, Abnormal oral mucosa morphology, Brachycephaly, Plagioce... ORPHA:2673
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Robinow Syndrome, Autosomal Dominant 1
Dental crowding, Short lingual frenulum, Orofacial cleft, Downturned corners of mouth, High palat... OMIM:180700
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Cleft lip, Pyloric stenosis, Tracheoesophageal fistula... ORPHA:1199
Odontoonychodermal Dysplasia
Sparse eyebrow, Erythema, Abnormality of primary teeth, Agenesis of permanent teeth, Conical inci... OMIM:257980
Senior-Loken Syndrome 8
Pallor OMIM:616307
Non-Functioning Pituitary Adenoma
Pallor, Ptosis ORPHA:91349
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Hydrocephalus, Ankyloglossia OMIM:602361
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Childhood Absence Epilepsy
Pallor ORPHA:64280
Fanconi Anemia, Complementation Group D2
Anemic pallor, Microcephaly, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Blepha... OMIM:227646
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Cleft upper lip, Blepharophimosis, Limbal dermoid, Hydroce... OMIM:164210
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Frontal bossing, Turricephaly, Flat occiput, Dental crowding, Sagittal... OMIM:614188
Pituitary Apoplexy
Pallor, Ptosis ORPHA:95613
Alternating Hemiplegia Of Childhood
Downturned corners of mouth, Exaggerated cupid's bow, Pallor, Thin eyebrow ORPHA:2131
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Septo-optic dysplasia, Hooded eyelid, Synophrys, Posterior plagiocep... OMIM:619841
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Orofaciodigital Syndrome Xiv
Natal tooth, Occipital encephalocele, Telecanthus, Hamartoma of tongue, Microcephaly, Cleft lip, ... OMIM:615948
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Penetrating foot ulcers, Buphthalmos, Difficulty in tongue movements, Ptosis ORPHA:99956
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Diamond-Blackfan Anemia
Epicanthus, Cleft soft palate, Microcephaly, Cleft lip, High palate, Pallor, Adenocarcinoma of th... ORPHA:124
Chand Syndrome
Cleft palate, Agenesis of permanent teeth, Dry skin, Ankyloblepharon, Abnormal oral frenulum morp... ORPHA:1401
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Ptosis OMIM:614153
Orofaciodigital Syndrome Vi
Epicanthus, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomple... OMIM:277170
X-Linked Agammaglobulinemia
Glossoptosis, Conjunctivitis, Skin ulcer, Malabsorption ORPHA:47
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Agel Amyloidosis
Tongue atrophy, Bilateral ptosis, Xerostomia, Cutis laxa, Keratoconjunctivitis sicca, Blepharocha... ORPHA:85448
Prolactinoma
Pallor, Ptosis ORPHA:2965
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Thin upper lip vermilion, Thick eyebrow, Microcephaly, Diastema, Furrowed tongue, Upslanted palpe... OMIM:300534
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Moebius Syndrome
Epicanthus, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Everted ... ORPHA:570
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Microcephaly ORPHA:20
Psoriasis 14, Pustular
Erythema, Geographic tongue, Furrowed tongue OMIM:614204
Smith-Lemli-Opitz Syndrome
Biparietal narrowing, Holoprosencephaly, Advanced eruption of teeth, Iris coloboma, Abnormal dent... ORPHA:818
Ayme-Gripp Syndrome
Thin upper lip vermilion, Ptosis, Broad eyebrow, Abnormality of the dentition, Brachycephaly, Bro... OMIM:601088
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Mandibuloacral Dysplasia
Dental crowding, Abnormally large globe, Abnormal tongue morphology, Hypoplasia of teeth, High pa... ORPHA:2457
Fanconi Anemia, Complementation Group E
Microphthalmia, Anemic pallor, Microcephaly OMIM:600901
Marshall-Smith Syndrome
Irregular dentition, Synophrys, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate... OMIM:602535
Bifid Nose With Or Without Anorectal And Renal Anomalies
Short lingual frenulum, Brachycephaly, Anteriorly placed anus, Widely-spaced maxillary central in... OMIM:608980
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations, Ptosis ORPHA:276198
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Furrowed tongue, Keratoconjunctivitis sicca, Microd... OMIM:148210
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Premature loss of primary teeth, Craniosynostosis, Hydrocephalus, Pallor ORPHA:667
Fanconi Anemia, Complementation Group A
Microphthalmia, Anemic pallor, Microcephaly OMIM:227650
Baller-Gerold Syndrome
Brachycephaly, Anteriorly placed anus, High palate, Spina bifida occulta, Bifid uvula, Sagittal c... OMIM:218600
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Peptic ulcer ORPHA:98849
Adenohypophysitis
Pallor ORPHA:95512
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Intrauterine growth retardation, Meckel ... OMIM:311900
Aregenerative Anemia
Pallor ORPHA:101096
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia, Depression ORPHA:847
Robinow Syndrome, Autosomal Recessive 1
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival ... OMIM:268310
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Frontal bossing, Epicanthus, Exaggerated cupid's bow, Spina bifida, Narrow mouth, Plagiocephaly, ... OMIM:619480
Panhypophysitis
Pallor ORPHA:95513
Yunis-Varon Syndrome
Redundant neck skin, Abnormal occipital bone morphology, High, narrow palate, Broad secondary alv... ORPHA:3472
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ... ORPHA:958
Meckel Syndrome, Type 1
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Occipital encephalocele, Ptosis, Intestin... OMIM:249000
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Hypoglossia-Hypodactyly Syndrome
Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodo... ORPHA:989
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Erythema, Pallor, Steatorrhea OMIM:557000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Short-Rib Thoracic Dysplasia 12
Natal tooth, Epicanthus, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Hydroceph... OMIM:269860
Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Bifid uvula, Midface retrusion, Cleft palate ORPHA:1427
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Pallor, Ganglioneuroma... ORPHA:653
Orofaciodigital Syndrome Type 2
Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of max... ORPHA:2751
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Cleft palate, Glossoptosis, Downslanted palpebral fissures, Iris coloboma ORPHA:436003
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
Orofaciodigital Syndrome Type 14
Telecanthus, Hamartoma of tongue, Accessory oral frenulum, Microcephaly, Supernumerary tooth, Apl... ORPHA:434179
Saethre-Chotzen Syndrome
Abnormal nasolacrimal system morphology, Parietal foramina, Oxycephaly, Brachycephaly, Narrow pal... OMIM:101400
Tetraamelia Syndrome 2
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate OMIM:618021
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Robinow Syndrome
Frontal bossing, Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival ove... ORPHA:97360
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... ORPHA:2752
Cerebrocostomandibular Syndrome
Anal stenosis, Epicanthus, Cleft soft palate, Microcephaly, Carious teeth, Cleft lip, Pierre-Robi... OMIM:117650
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Epicanthus, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis OMIM:277380
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Tongue fasciculations, Ptosis OMIM:211530
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Stuve-Wiedemann Syndrome 1
Frontal bossing, Pursed lips, Carious teeth, Thin vermilion border, Smooth tongue, Premature skin... OMIM:601559
Rabson-Mendenhall Syndrome
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... ORPHA:769
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Highly arched eyebrow, Microcephaly, Synophrys, Plagiocephaly, Glossopt... ORPHA:444077
Catel-Manzke Syndrome
Cleft upper lip, Pierre-Robin sequence, Nasolacrimal duct obstruction, Cleft palate, Upslanted pa... OMIM:616145
Tarp Syndrome
Thick eyebrow, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abno... ORPHA:2886
Idiopathic Hypereosinophilic Syndrome
Colitis, Pallor, Malabsorption ORPHA:3260
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Abnormality of dental color, Cranial asymmetry OMIM:163200
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis OMIM:175500
Hartnup Disease
Glossitis, Gingivitis, Malabsorption ORPHA:2116
Tsh-Secreting Pituitary Adenoma
Pallor, Ptosis ORPHA:91347
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Distal Deletion 15Q
Thin upper lip vermilion, Flat occiput, Abnormality of the dentition, Microcephaly, Cleft palate,... ORPHA:1596
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Pallor, Intussusception, Acute colitis ORPHA:544482
Cowden Syndrome 5
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:615108
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Giant Cell Arteritis
Glossitis, Skin ulcer, Ptosis ORPHA:397
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Intrauterine growth retardation, Glossitis, Cleft palate ORPHA:79284
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess OMIM:600145
Cowden Syndrome 6
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:615109
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Pallor ORPHA:892
Stickler Syndrome
Epicanthus, Telecanthus, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft pal... ORPHA:828
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Synophrys, Downturned corners of mouth, Short philtrum, Premature loss of ... ORPHA:3455
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Microcephaly, Hydrocephalus, Stomatitis, Intrauterine growth retardation, Gloss... ORPHA:79282
Cowden Syndrome 1
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:158350
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Oral mucosal blisters, Erythema, Smooth tongue, Enamel hypoplasia ORPHA:79396
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy, Optic nerve hypoplasia ORPHA:101085
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... OMIM:613091
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Mucoepithelial Dysplasia, Hereditary
Erythematous oral mucosa, Keratoconjunctivitis, Furrowed tongue OMIM:158310
Pachyonychia Congenita 3
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue OMIM:615726
Viss Syndrome
Chronic gastritis, High, narrow palate, Brachycephaly, High palate, Broad uvula, Bifid uvula, Cle... OMIM:619472
Kawasaki Disease
Cheilitis, Conjunctivitis, Palmoplantar erythema, Glossitis, Ptosis ORPHA:2331
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis ORPHA:247353
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Charcot-Marie-Tooth Disease Type 4C
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations ORPHA:99949
Cowden Syndrome
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate, Conjun... ORPHA:201
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy, Microcephaly ORPHA:466768
Glucagonoma
Intestinal obstruction, Necrolytic migratory erythema, Steatorrhea, Stomatitis, Glossitis ORPHA:97280
Plague
Chapped lip, Enterocolitis, Skin ulcer, Inflammation of the large intestine, Conjunctival hyperem... ORPHA:707
Goodpasture Syndrome
Pallor OMIM:233450
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Frontal bossing, Epicanthus, Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bi... ORPHA:93271
Microsporidiosis
Glossitis, Keratoconjunctivitis ORPHA:2552
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Smooth tongue, Abnormality of the dentition ORPHA:3206
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... ORPHA:1359
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125

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.

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term spermatogenesis defect Ubn2em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term apoptosis Ubn2em1(IMPC)Tcp HOM Early adult

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 Ubn2.

No publications found that use IMPC mice or data for Ubn2.

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MGI Allele Allele Type Produced
Ubn2em1(IMPC)Tcp Exon Deletion Mice
Ubn2tm210826(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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