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Gene: Tmem209 MGI:1919899

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Gene Summary

Name:
transmembrane protein 209
Synonyms:
2700094F01Rik

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
preweaning lethality, incomplete penetrance Tmem209em1(IMPC)Tcp HOM   Early adult 0.00
abnormal stomach morphology Tmem209em1(IMPC)Tcp HET Early adult 0.00
male infertility Tmem209em1(IMPC)Tcp HOM Early adult 0.00
abnormal head size Tmem209em1(IMPC)Tcp HOM E18.5 0.00
protruding tongue Tmem209em1(IMPC)Tcp HOM E18.5 0.00
microphthalmia Tmem209em1(IMPC)Tcp HOM E18.5 0.00
abnormal embryo size Tmem209em1(IMPC)Tcp HET E18.5 0.00
abnormal seminal vesicle morphology Tmem209em1(IMPC)Tcp HET Early adult 0.00
pallor Tmem209em1(IMPC)Tcp HOM E18.5 0.00
abnormal embryo size Tmem209em1(IMPC)Tcp HOM E18.5 0.00
abnormal head shape Tmem209em1(IMPC)Tcp HOM E18.5 0.00
abnormal eyelid fusion Tmem209em1(IMPC)Tcp HOM E18.5 0.00
enlarged lymph nodes Tmem209em1(IMPC)Tcp HET Early adult 0.00
enlarged spleen Tmem209em1(IMPC)Tcp HET Early adult 0.00
exencephaly Tmem209em1(IMPC)Tcp HOM E18.5 0.00
abnormal placenta morphology Tmem209em1(IMPC)Tcp HOM E18.5 0.00
anophthalmia Tmem209em1(IMPC)Tcp HOM E18.5 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Gross Morphology Embryo E18.5

Images

77 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Histopathology

Images

2 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

3 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

3 Images

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Human diseases caused by Tmem209 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 Tmem209 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Spermatogenic Failure 17
Male infertility OMIM:617214
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 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
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 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
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
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
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom... OMIM:611638
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate,... OMIM:619452
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 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 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
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 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
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
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 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
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 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 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
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, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
9q subtelomeric deletion syndrome
Synophrys, Microcephaly, Midface retrusion, Protruding tongue DECIPHER:52
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
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
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Microcephaly, Brachycephaly, Upslanted palpebral fissure, High palate, Narrow mouth, ... ORPHA:2528
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Gastric Cancer
Stomach cancer OMIM:613659
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Oculocerebrocutaneous Syndrome
Anophthalmia, Orbital encephalocele, Orbital cyst, Cleft palate, Eyelid coloboma, Microphthalmia OMIM:164180
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
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Cerebrooculonasal Syndrome
Epicanthus, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Brachycephaly, Upslanted palpebral fi... ORPHA:66625
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Orbital cyst, Coloboma OMIM:251505
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ... ORPHA:1104
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
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
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Hartsfield Syndrome
Encephalocele, Ptosis, Telecanthus, Craniosynostosis, Non-midline cleft lip, Cleft palate, Lobar ... ORPHA:2117
Microphthalmia, Syndromic 8
Cleft upper lip, Microcephaly, Cleft palate, Orofacial cleft, Widely-spaced maxillary central inc... OMIM:601349
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Microcephaly, Cleft palate... OMIM:613885
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Skull asymmetry, Thin ... OMIM:612938
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Protruding tongue, Brachycephaly, Gingival overgrowth, Wide mouth, Horizontal eyebr... OMIM:618797
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Down Syndrome
Epicanthus, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower l... ORPHA:870
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Microcephaly, Submucous cleft hard palate, Plagiocephaly, Wid... OMIM:618106
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly OMIM:617068
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Abnormal calvaria morphology, Median cleft palate ORPHA:2432
Ring Chromosome 22 Syndrome
Epicanthus, Protruding tongue, Microcephaly, Thick vermilion border, Dolichocephaly, Midface retr... ORPHA:1446
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Ankyloblepharon OMIM:611038
Nanophthalmos 2
Microphthalmia OMIM:609549
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Gombo Syndrome
Microphthalmia, Microcephaly OMIM:233270
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Anophthalmia, Abnormal spaced incisors, Synophrys, Everted lower lip vermilion, Thic... ORPHA:411986
Craniotelencephalic Dysplasia
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal en... ORPHA:1528
Microphthalmia, Isolated 8
Entropion, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthal... OMIM:615113
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Kleefstra Syndrome 1
Natal tooth, Persistence of primary teeth, Protruding tongue, Microcephaly, Synophrys, Brachyceph... OMIM:610253
Cerebrooculonasal Syndrome
Anophthalmia, Brachycephaly, Downturned corners of mouth, High palate, Iris coloboma, Encephaloce... OMIM:605627
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate OMIM:615524
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Protruding tongue, Prominent eyelashes, Gingival overgrowth, Upslanted palpebral fi... OMIM:619179
Solitary Median Maxillary Central Incisor
Anophthalmia, Cleft upper lip, Microcephaly, Prominent median palatal raphe, Coloboma, Holoprosen... OMIM:147250
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Telecanthus, Highly arched eyebrow, Orofacial cleft, Wide mouth, Colobo... OMIM:614583
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Non-Distal Duplication 10Q
Frontal bossing, Microcephaly, Brachycephaly, Everted lower lip vermilion, High palate, Blepharop... ORPHA:1695
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Protruding tongue, Diastema, Microcephaly, Gingival overgrowth, Brachycephaly, Wide ... OMIM:212066
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Pierpont Syndrome
Thin upper lip vermilion, Telecanthus, Brachycephaly, Broad philtrum, Narrow palpebral fissure, T... ORPHA:487825
Icf Syndrome
Communicating hydrocephalus, Epicanthus, Malabsorption, Protruding tongue, Macroglossia, Umbilica... ORPHA:2268
Microphthalmia, Syndromic 13
Ptosis, Microcephaly, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-spaced incisors OMIM:300915
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Acrocallosal Syndrome
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Prominent palatine ridges, Bi... OMIM:200990
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Intrauterine growth retardation, Cleft palate, Microcephaly OMIM:616570
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma, Cleft palate, Cleft upper lip OMIM:600251
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Coloboma, Microphthalmia ORPHA:324416
Raine Syndrome
Natal tooth, Highly arched eyebrow, Protruding tongue, Microcephaly, Hydrocephalus, Brachycephaly... OMIM:259775
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Kleefstra Syndrome Due To 9Q34 Microdeletion
Flat occiput, Highly arched eyebrow, Protruding tongue, Microcephaly, Synophrys, Brachycephaly, D... ORPHA:96147
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux OMIM:608971
Joubert Syndrome 1
Epicanthus, Highly arched eyebrow, Protruding tongue, Microcephaly, Optic disc coloboma, Occipita... OMIM:213300
Frontofacionasal Dysplasia
Encephalocele, Telecanthus, Blepharophimosis, Non-midline cleft lip, Brachycephaly, Cleft palate,... ORPHA:1791
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Epicanthus, Protruding tongue, Microcephaly, Synophrys, Upper eyelid edema, Everted lower lip ver... OMIM:617804
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Telecanthus, Conical tooth, Abnormality of the dentition, Brachyc... ORPHA:228390
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:120433
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Pierpont Syndrome
Telecanthus, Microcephaly, Unilateral narrow palpebral fissure, Brachycephaly, Broad philtrum, Pr... OMIM:602342
Hydrolethalus
Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Gingival cleft, Cleft pala... ORPHA:2189
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Angelman Syndrome
Flat occiput, Protruding tongue, Brachycephaly, Wide mouth, Macroglossia, Widely spaced teeth, Se... OMIM:105830
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Angelman Syndrome Due To A Point Mutation
Flat occiput, Protruding tongue, Cessation of head growth, Wide mouth, Widely spaced teeth, Secon... ORPHA:411511
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Protruding tongue, Hydrocephalus, Gingival overgrowth, Umbilical hernia,... ORPHA:93400
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Gastric varix, Hepatocellular carcinoma OMIM:613490
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Mmep Syndrome
Microphthalmia, Median cleft lip, Orofacial cleft, Microcephaly ORPHA:3434
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Telecanthus, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilat... OMIM:607597
Trisomy 13
Anophthalmia, Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, ... ORPHA:3378
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Upper eyelid coloboma, Anteriorly pla... ORPHA:2717
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... OMIM:167730
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Craniosynostosis OMIM:218670
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Brachycephaly, Cleft palate, Upper eyelid coloboma, Microphthalmia OMIM:613456
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Microphthalmia With Limb Anomalies
Frontal bossing, Anophthalmia, Cleft upper lip, Abnormal eyelash morphology, Deep philtrum, Cleft... OMIM:206920
Fontaine Progeroid Syndrome
Redundant skin, High, narrow palate, Synophrys, Brachycephaly, Anteriorly placed anus, Oligodonti... OMIM:612289
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Epicanthus, Protruding tongue, Diastema, Microcephaly, Thick lower lip vermilion, Widely-spaced m... OMIM:301040
2Q24 Microdeletion Syndrome
Cleft palate, Coloboma, Abnormal oral frenulum morphology, Short philtrum, Microphthalmia, Downsl... ORPHA:1617
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach OMIM:114500
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
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia OMIM:619164
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Palpebral edema, Protruding tongue, Microcephaly, Deep philtrum, Premature ... ORPHA:99843
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Narrow mouth, Upslanted palpebral fissure, Excessive wrinkled skin, Progressiv... OMIM:608779
Intellectual Developmental Disorder, Autosomal Dominant 26
Ptosis, Epicanthus, Thick eyebrow, Highly arched eyebrow, Microcephaly, Deep philtrum, Brachyceph... OMIM:615834
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Epicanthus, Malabsorption, Protruding tongue OMIM:242860
Developmental And Epileptic Encephalopathy 31B
Protruding tongue, Almond-shaped palpebral fissure, Gingival overgrowth, Secondary microcephaly, ... OMIM:620352
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Temtamy Syndrome
Telecanthus, Thick lower lip vermilion, Chorioretinal coloboma, Dolichocephaly, Microphthalmia, I... ORPHA:1777
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Braddock-Carey Syndrome 2
Microcephaly, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Downslanted palpeb... OMIM:619981
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... ORPHA:543
Frontofacionasal Dysplasia
Telecanthus, Cleft upper lip, Blepharophimosis, Brachycephaly, Orofacial cleft, Ankyloblepharon, ... OMIM:229400
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Protruding tongue, Wide mouth, Upslanted palpebral fissure, High pala... OMIM:618580
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Antecubital pterygium, Ankyloblepharon, Bilateral cleft lip and palate, ... OMIM:619339
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Flat occiput, Protruding tongue, Cessation of head growth, Wide mouth, Widely spaced teeth, Secon... ORPHA:98794
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Iris coloboma OMIM:610092
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation, Microcephaly ORPHA:291
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis ORPHA:664
Cat-Eye Syndrome
Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Anal atres... ORPHA:195
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Flat occiput, Microcephaly, Brachycephaly, Long philtrum, Smooth philtrum ORPHA:46
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Microcephaly, Protruding tongue, Syn... OMIM:617062
Gómez-López-Hernández Syndrome
Turricephaly, Telecanthus, Hydrocephalus, Brachycephaly, Thin vermilion border, Midface retrusion ORPHA:1532
Potocki-Shaffer Syndrome
Turricephaly, Epicanthus, Telecanthus, Parietal foramina, Brachycephaly, Downturned corners of mo... OMIM:601224
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcephaly, High palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma ORPHA:139471
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Whistling Face Syndrome, Recessive Form
Ptosis, Epicanthus, Telecanthus, Whistling appearance, High palate, Narrow mouth, Blepharophimosi... OMIM:277720
Fetal Alcohol Syndrome
Thin upper lip vermilion, Ptosis, Epicanthus, Telecanthus, Microcephaly, Non-midline cleft lip, C... ORPHA:1915
Proboscis Lateralis
Anophthalmia, Abnormal morphology of bony orbit of skull, Orofacial cleft, Eyelid coloboma, High ... ORPHA:141099
Clark-Baraitser Syndrome
Thin upper lip vermilion, Epicanthus, Exaggerated cupid's bow, Microcephaly, Brachycephaly, Downt... OMIM:617752
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epicanthus, Flat occiput, Redundant neck skin, Protruding tongue, High, narrow palate, Upslanted ... OMIM:214100
Marshall-Smith Syndrome
Open mouth, Gingival overgrowth, Craniosynostosis, Protruding tongue ORPHA:561
Dermatitis, Atopic
Dry skin, Conjunctivitis, Pallor, Facial erythema OMIM:603165
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Optic nerve hypoplasia, Microcephaly, Brachycephaly, Lambdoidal craniosynostosis, S... OMIM:618736
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... ORPHA:79301
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Cleft palate, Tooth agenesis, High palate, Microphthalmia, Midface retrusion ORPHA:1135
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Nasolacrimal duct obstruction, Anteriorly placed anus, Eyelid colobo... OMIM:248450
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Peripheral Cone Dystrophy
Pallor OMIM:609021
Monosomy 18P
Epicanthus, Microcephaly, Carious teeth, Brachycephaly, Cleft palate, Downturned corners of mouth... ORPHA:1598
Frontonasal Dysplasia 2
Encephalocele, Telecanthus, Sparse eyelashes, Craniosynostosis, Conical tooth, Parietal foramina,... OMIM:613451
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Mi... ORPHA:77298
Juvenile Sialidosis Type 2
Umbilical hernia, Gingival overgrowth, Protruding tongue ORPHA:93399
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Nanophthalmos
Microphthalmia ORPHA:35612
Frontonasal Dysplasia 1
Epicanthus, Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary central incis... OMIM:136760
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Frontal bossing, Epicanthus, Thick eyebrow, Exaggerated cupid's bow, Microcephaly, Sparse eyebrow... OMIM:620098
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Holoprosencephaly
Anophthalmia, Flat occiput, Deep philtrum, Synophrys, Holoprosencephaly, Chorioretinal coloboma, ... ORPHA:2162
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Angelman Syndrome
Flat occiput, Microcephaly, Protruding tongue, Wide mouth, Widely spaced teeth, Ptosis ORPHA:72
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma, Microcephaly OMIM:274270
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Cleft upper lip, Microcephaly, Orofa... OMIM:243310
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Malabsorption ORPHA:42642
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microcephaly, Upslanted palpebral fissure, Widely spaced teeth, Long palpebral fissure, Microdont... OMIM:619694
Chromosome 1Q41-Q42 Deletion Syndrome
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Microceph... OMIM:612530
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis ORPHA:172
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Abnormal size of the palpebral fissures, High, narrow palate, Plagiocephaly, Dolich... ORPHA:1101
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... ORPHA:2791
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Primary Lateral Sclerosis, Juvenile
Difficulty in tongue movements, Pallor OMIM:606353
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Cleft palate, Plagioc... ORPHA:85284
Cornelia De Lange Syndrome 2
Thin upper lip vermilion, Thick eyebrow, Highly arched eyebrow, Microcephaly, Synophrys, Brachyce... OMIM:300590
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Sandestig-Stefanova Syndrome
Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, Orofacial cleft, High palate, Prim... OMIM:618804
Trisomy 1Q
Frontal bossing, Anophthalmia, Hydrocephalus, Cleft palate, Narrow mouth, Downslanted palpebral f... ORPHA:261344
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus, Coloboma ORPHA:141333
Meckel Syndrome, Type 4
Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Microphthalmi... OMIM:611134
Cockayne Syndrome Type 2
Anophthalmia, Delayed eruption of primary teeth, Intrauterine growth retardation, Widely spaced p... ORPHA:90322
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, Protruding tongue, Upslanted palpebral fissure, High palate, Short philtrum OMIM:300963
Nanophthalmos 4
Microphthalmia OMIM:615972
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Acute Myelomonocytic Leukemia
Abnormality of the gingiva, Pallor ORPHA:517
Kleefstra Syndrome 2
Microcephaly, Plagiocephaly, Everted lower lip vermilion, Midface retrusion, Bifid uvula, Thick e... OMIM:617768
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Coloboma, Microphthalmia OMIM:610125
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft lip and palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis ORPHA:1473
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia OMIM:611561
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
X-Linked Dystonia-Parkinsonism
Blepharospasm, Protruding tongue ORPHA:53351
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Ring Chromosome 10 Syndrome
Frontal bossing, Aganglionic megacolon, Thin vermilion border, Long philtrum, Microphthalmia, Dow... ORPHA:1438
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Ptosis, Flat occiput, Epicanthus, Highly arched eyebrow, Microcephaly, ... OMIM:613792
Optic Atrophy 1
Pallor OMIM:165500
Meckel Syndrome, Type 2
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Microphthalmia, In... OMIM:603194
Xk Aprosencephaly Syndrome
Microphthalmia, Microcephaly, Anal atresia, Narrow mouth ORPHA:3469
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Craniosynostosis 6
Turricephaly, Craniosynostosis, Microcephaly, Parietal foramina, Brachycephaly, Plagiocephaly, Ri... OMIM:616602
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto... OMIM:613101
Neurooculocardiogenitourinary Syndrome
Epicanthus, Redundant neck skin, Downturned corners of mouth, Coloboma, Secondary microcephaly, M... OMIM:618652
Cofs Syndrome
Microphthalmia, Intrauterine growth retardation, Everted lower lip vermilion, Microcephaly ORPHA:1466
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Highly arched eyebrow, Bilateral ptosis, Deep p... ORPHA:404440
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma ORPHA:281090
Fanconi Anemia, Complementation Group S
Epicanthus, Macrodontia, Microcephaly, Dental malocclusion, Narrow palate, Upslanted palpebral fi... OMIM:617883
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... ORPHA:54028
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Epicanthus, Hydrocephalus, Microphthalmia, Downslanted palpebral fissures, Smooth philtrum OMIM:602501
Degcags Syndrome
Synophrys, High palate, Pallor, Hiatus hernia, Abnormal eyelash morphology, Thick vermilion borde... OMIM:619488
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Microcephaly OMIM:278780
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Anophthalmia, Coloboma, Long eyelashes, Long philtrum, Microphthalmia, Cryptophthalmos OMIM:615877
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Microcephaly, Abnormal eyelash morphology, Sparse eyebrow, Lacri... ORPHA:2399
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Walker-Warburg Syndrome
Anophthalmia, Microcephaly, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Microphthal... ORPHA:899
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Thin upper lip vermilion, Epicanthus, Flat occiput, Microcephaly, Deep philtrum, Thick lower lip ... OMIM:152950
Congenital Heart Defects And Ectodermal Dysplasia
Medial flaring of the eyebrow, Frontal bossing, Premature loss of primary teeth, Microcephaly, Br... OMIM:617364
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... ORPHA:424019
Hallermann-Streiff Syndrome
Selective tooth agenesis, High, narrow palate, Brachycephaly, High palate, Chorioretinal coloboma... OMIM:234100
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Bilateral microphthalmos, Brachycephaly, Plagiocephaly, Downturned corners of mouth, ... ORPHA:369891
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Camptodactyly Syndrome, Guadalajara Type 1
Epicanthus, Telecanthus, Spina bifida, Microcephaly, Open bite, Highly arched eyebrow, Synophrys,... ORPHA:1327
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... ORPHA:97290
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Frontal bossing, Cloverleaf skull, Downturned corners of mouth, Short philtrum, Platybasia, Micro... ORPHA:93267
Familial Melanoma
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach ORPHA:618
Holoprosencephaly 7
Flat occiput, Alobar holoprosencephaly, Synophrys, Holoprosencephaly, Shallow orbits, Parietal bo... OMIM:610828
Chromosome 3Q13.31 Deletion Syndrome
Epicanthus, Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, High palate, Short philtrum, ... OMIM:615433
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Frontal bossing, Epicanthus, Tented upper lip vermilion, Microcephaly, High palate, Short philtru... OMIM:614105
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Microphthalmia, Hydrocephalus, Microcephaly OMIM:613155
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Iris coloboma, Coloboma OMIM:610023
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Epicanthus, Brachycephaly, Cleft palate, Downturned corners of mouth, High palat... ORPHA:163649
8Q12 Microduplication Syndrome
Epicanthus, Telecanthus, Highly arched eyebrow, Narrow mouth, Brachycephaly, Everted lower lip ve... ORPHA:228399
Joubert Syndrome 14
Encephalocele, Epicanthus, Tented upper lip vermilion, Highly arched eyebrow, Hydrocephalus, Meni... OMIM:614424
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor, Ptosis OMIM:613561
Deafness, X-Linked 7
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis OMIM:301018
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Microcephaly, Hydrocephalus, Agenesis of i... OMIM:610829
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Nabais Sa-De Vries Syndrome, Type 1
Epicanthus, Telecanthus, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Brachycephaly,... OMIM:618828
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Intrauterine growth retardation, Microcephaly OMIM:616171
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... OMIM:619375
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... ORPHA:319487
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
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Microcephaly, Protruding tongue OMIM:619580
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
3Q29 Microduplication Syndrome
Craniosynostosis, Abnormality of the dentition, Microcephaly, Deep philtrum, Cleft palate, Ectopi... ORPHA:251038
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Warburg Micro Syndrome 1
Microcephaly, Thin vermilion border, Narrow mouth, Microphthalmia, Ptosis OMIM:600118
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... ORPHA:131
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis ORPHA:75234
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... OMIM:602347
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Highly arched eyebrow, Microcephaly, Brachycephaly, Cleft palate, Narrow palpebr... OMIM:600325
Skin Creases, Congenital Symmetric Circumferential, 1
Epicanthus, Microcephaly, Brachycephaly, Cleft palate, Upslanted palpebral fissure, High palate, ... OMIM:156610
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Absent eyebrow, Anophthalmia, Dental crowding... OMIM:219000
Stevenson-Carey Syndrome
Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Coloboma, Narrow mouth, Microp... OMIM:611961
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Narrow mouth OMIM:230600
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Abnormal intestine morphology... ORPHA:397596
Breath-Holding Spells
Pallor OMIM:607578
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Synophrys, Gingival overgrowth, High palate, Micro... OMIM:619777
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral ptosis, Microcephaly, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, A... OMIM:619318
Cataract 9, Multiple Types
Microphthalmia, Iris coloboma OMIM:604219
Seckel Syndrome 2
Microdontia, Microphthalmia, Microglossia, Microcephaly OMIM:606744
Frontorhiny
Encephalocele, Epicanthus, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Microphth... ORPHA:391474
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Down Syndrome
Epicanthus, Redundant neck skin, Aganglionic megacolon, Protruding tongue, Brachycephaly, Duodena... OMIM:190685
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Microcephaly OMIM:617255
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Hepatomegaly ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Optic nerve hypoplasia, Thick lower lip vermilion, Cranial asymmetry, L... ORPHA:137634
Temtamy Syndrome
Frontal bossing, Dental crowding, Highly arched eyebrow, Hypoplasia of teeth, Chorioretinal colob... OMIM:218340
Cebalid Syndrome
Turricephaly, Highly arched eyebrow, Platystencephaly, Brachycephaly, Plagiocephaly, High palate,... OMIM:618774
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Frontal bossing, Epicanthus, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mouth,... OMIM:618571
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Hypoplastic philtrum, Protrudin... OMIM:309580
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
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Chopra-Amiel-Gordon Syndrome
Thin upper lip vermilion, Microcephaly, Almond-shaped palpebral fissure, Cleft lip, Pierre-Robin ... OMIM:619504
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Frontal bossing, Epicanthus, Telecanthus, Dental crowding, Sparse eyel... OMIM:257850
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... OMIM:619463
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Epicanthus, Anophthalmia, Abnormal nasolacrimal system morphology, Microcephaly, Abnormal eyelid ... ORPHA:2526
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Lagophthalmos, Ectropion of lower eyelids, Neural tube defect, Eu... OMIM:119580
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydrocephalus, Tracheoesopha... ORPHA:3412
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Blepharophimosis... OMIM:141300
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Microcep... ORPHA:364577
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Encephalocele, Tented upper lip vermilion, Epican... OMIM:619148
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia, Cryptophthalmos, Ankyloblepharon OMIM:123570
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Oculocerebrofacial Syndrome, Kaufman Type
Absent eyebrow, Epicanthus, Flat occiput, Telecanthus, Microcephaly, Blepharophimosis, High, narr... ORPHA:2707
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Ptosis, Microcephaly, Blepharophimosis, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, M... ORPHA:2728
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Plagiocephaly, Flat occiput, Brachycephaly, Microcephaly ORPHA:2898
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Flat occiput, Exencephaly, Brachycephaly, Eyelid coloboma, Long philtrum, Downslan... ORPHA:2211
Fraser Syndrome
Encephalocele, Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, Microcephaly, Myelo... ORPHA:2052
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly, Long eyelashes, Long philtru... OMIM:618577
Catel-Manzke Syndrome
Highly arched eyebrow, Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Primary microcephaly OMIM:615771
Congenital Disorder Of Glycosylation, Type Iq
Brachycephaly, Cutis laxa, Coloboma, Microphthalmia, Dry skin OMIM:612379
Congenital Toxoplasmosis
Microphthalmia, Intrauterine growth retardation, Hydrocephalus, Microcephaly ORPHA:858
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing, Synophrys, Dental crowding OMIM:619264
Cataract-Intellectual Disability-Hypogonadism Syndrome
Microcephaly, Brachycephaly, Furrowed tongue, High palate, Short philtrum, Everted lower lip verm... ORPHA:1387
Richieri-Costa/Guion-Almeida Syndrome
Microcephaly, Cleft upper lip, Brachycephaly, Cleft palate, Eyelid coloboma, Palmoplantar cutis l... OMIM:268850
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i... OMIM:300635
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Galactosemia Iii
Splenomegaly, Jaundice, Hepatomegaly OMIM:230350
Matthew-Wood Syndrome
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis ORPHA:2470
Vulto-Van Silfhout-De Vries Syndrome
Frontal bossing, Epicanthus, Tented upper lip vermilion, Thick lower lip vermilion, Brachycephaly... OMIM:615828
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Microcephaly, Highly arched eyebrow, Long philtrum OMIM:300887
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Fanconi Anemia, Complementation Group G
Microphthalmia, Microcephaly OMIM:614082
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis, Tented upper lip vermilion, Brachycephaly, Long philtrum OMIM:619972
Meckel Syndrome
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the tongue, Microcephaly, Hydrocephalus, Anenc... ORPHA:564
Achondrogenesis, Type Ia
Turricephaly, Protruding tongue OMIM:200600
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent... ORPHA:2712
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly OMIM:620010
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Highly arched eyebrow, Cleft palate, Plagiocephaly, Downturned corners of mouth, Ectopic anus, Sh... ORPHA:94066
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ... ORPHA:2250
Fetal Trimethadione Syndrome
Epicanthus, Microcephaly, Synophrys, Brachycephaly, High palate, Intrauterine growth retardation,... ORPHA:1913
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Frontal bossing, Thin upper lip vermilion, Craniosynostosis, Pyloric stenosis, Brachycephaly, Hig... ORPHA:314575
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Hydrocephalus, Wide mouth, Short philtrum, Microphthalmia, Intrauterine growth r... ORPHA:163966
Treacher-Collins Syndrome
Brachycephaly, Glossoptosis, Eyelid coloboma, High palate, Iris coloboma, Encephalocele, Branchia... ORPHA:861
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Ascites, Anemia ORPHA:75233
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate, Cleft upper lip OMIM:614402
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Retinal coloboma OMIM:601794
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Microphthalmia, Microcephaly OMIM:308350
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
17Q12 Microduplication Syndrome
Microphthalmia, Synophrys, Tracheoesophageal fistula, Cleft palate ORPHA:261272
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Long eyelashes, Intrauterine growth retardation ORPHA:48431
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly... OMIM:618935
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microcephaly, Pallor, Microphthalmia, Intrauterine growth retardation OMIM:609053
Orofaciodigital Syndrome Xix
Frontal bossing, Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow mo... OMIM:620107
Trichothiodystrophy 3, Photosensitive
Eclabion, Natal tooth, Ectropion, Carious teeth, Pyloric stenosis, Trigonocephaly, Microphthalmia... OMIM:616395
3P25.3 Microdeletion Syndrome
Thin upper lip vermilion, Epicanthus, High, narrow palate, Deep philtrum, Pyloric stenosis, Brach... ORPHA:435638
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Epicanthus, Anophthalmia, Brachycephaly, Downturned corners of mouth, Downsl... ORPHA:264200
Cyclic Vomiting Syndrome
Pallor, Microcephaly OMIM:500007
Crouzon Syndrome
Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Narrow palate, Multiple suture crani... ORPHA:207
Deafness-Craniofacial Syndrome
Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Upslanted palpebral fissur... ORPHA:3241
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Curry-Jones Syndrome
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Intestinal malrotation, Lip ... OMIM:601707
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
German Syndrome
Abnormal eyebrow morphology, Synophrys, Brachycephaly, Orofacial cleft, High palate, Everted lowe... ORPHA:2077
Fanconi Anemia, Complementation Group J
Microphthalmia, Intrauterine growth retardation OMIM:609054
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Epicanthus, Bilateral microphthalmos, Thick lower lip... ORPHA:2563
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... ORPHA:2930
Jacobsen Syndrome
Ptosis, Epicanthus, Flat occiput, Telecanthus, Microcephaly, Abnormal eyelash morphology, Pyloric... OMIM:147791
Joubert Syndrome 22
Microphthalmia, Coloboma, Intrauterine growth retardation OMIM:615665
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Long eyelashes, Brachycephaly, Thick eyebrow ORPHA:1514
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Microcephaly, Thick lower lip vermilion, Wide mouth, Long philtrum, Mic... ORPHA:1942
Blomstrand Lethal Chondrodysplasia
Natal tooth, Long philtrum, Telecanthus, Protruding tongue ORPHA:50945
Microphthalmia, Syndromic 2
Anophthalmia, Oligodontia, Fused teeth, Laterally curved eyebrow, Iris coloboma, Bifid uvula, Per... OMIM:300166
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Cleft palate, Microcephaly OMIM:257910
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Microphtha... ORPHA:231736
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Brachycephaly, Craniosynostosis OMIM:614416
Leishmaniasis
Pallor, Abnormal oral mucosa morphology, Skin ulcer, Abnormal oral cavity morphology ORPHA:507
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bo... OMIM:608670
Rere-Related Neurodevelopmental Syndrome
Frontal bossing, Ptosis, Epicanthus, Chorioretinal coloboma, Blepharophimosis, Microphthalmia, Ir... ORPHA:494344
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Frontal bossing, Duodenal stenosis ORPHA:2547
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Protruding tongue ORPHA:258
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Distichiasis, High palate, Pallor, Microcephaly OMIM:600462
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Microphthalmia, Syndromic 3
Frontal bossing, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microcephaly, Esophag... OMIM:206900
Marden-Walker Syndrome
Ptosis, Epicanthus, Microcephaly, High, narrow palate, Pyloric stenosis, Cleft palate, High palat... OMIM:248700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Acrofrontofacionasal Dysostosis 1
Long eyebrows, Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Oligodontia, Long eyelas... OMIM:201180
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... OMIM:616100
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis OMIM:602390
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Teebi-Shaltout Syndrome
Turricephaly, Telecanthus, Highly arched eyebrow, Microcephaly, High, narrow palate, Scaphocephal... OMIM:272950
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Microcephaly, High, ... ORPHA:193
Microphthalmia, Isolated, With Coloboma 9
Macular coloboma, Narrow palpebral fissure, Long philtrum, Microphthalmia, Iris coloboma, Ptosis OMIM:615145
Warburg Micro Syndrome 4
Narrow mouth, Brachycephaly, Secondary microcephaly, Long philtrum, Microphthalmia, Ptosis OMIM:615663
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Sparse eyelashes, Microcephaly, Sparse eyebrow, Unilateral microphthalm... OMIM:618874
Cockayne Syndrome Type 1
Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely spaced prim... ORPHA:90321
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Synophrys, Brachycephaly, Wide mouth, Upslanted palpebral fissure, Ptosis OMIM:616083
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... OMIM:618892
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Frontal bossing, Hydrocephalus, Intrauterine growth retardation OMIM:300863
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Macroglossia, Colob... ORPHA:370959
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Microphthalmia, Downslanted palpebral fissures, Smooth phi... OMIM:614526
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Brachycephaly, Plagiocephaly, Macroglossia, Wide mouth, Coloboma, Everted lower ... OMIM:616789
Microgastria-Limb Reduction Defect Syndrome
Frontal bossing, Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal ... ORPHA:2538
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Tented upper lip vermilion, Microcephaly, Cleft palate, Furrowed tongue, High palate,... OMIM:616449
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Microcephaly, Plagiocephaly, Up... OMIM:616579
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Orofaciodigital Syndrome V
Unilateral ptosis, Frontal bossing, Thin upper lip vermilion, Median cleft lip, Aganglionic megac... OMIM:174300
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Jaundice, Hepatitis, Ly... ORPHA:381
Multiple Benign Circumferential Skin Creases On Limbs
Epicanthus, Microcephaly, Cleft palate, Umbilical hernia, Long philtrum, Microphthalmia ORPHA:2505
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Myasthenic Syndrome, Congenital, 10
Tongue atrophy, Ptosis OMIM:254300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Highly arched eyebro... OMIM:239300
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Orofaciodigital Syndrome Type 5
Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral... ORPHA:2919
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Joubert Syndrome 37
Microphthalmia, Frontal bossing, High palate, Ptosis OMIM:619185
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Intrahepatic cholestasis, Jaundice, Acholic sto... OMIM:607765
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis, Furrowed tongue ORPHA:2743
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Telecanthus, Lip pit, Microcephaly, Brachycephaly, Hypodontia, Microphthalmia, I... ORPHA:1236
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Cdags Syndrome
Frontal bossing, Ectropion, Sparse eyelashes, Sagittal craniosynostosis, Parietal foramina, Recto... OMIM:603116
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Narrow mouth, Optic disc coloboma, Brachyceph... ORPHA:1790
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Microcephaly, Carious teeth, Thin vermilion border, Long philtrum, Ble... OMIM:214150
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Microcephaly OMIM:251270
Microcephaly-Micromelia Syndrome
Craniosynostosis, Microcephaly, Aqueductal stenosis, Cleft palate, Narrow mouth, Microphthalmia, ... OMIM:251230
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Pyloric ste... ORPHA:379
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Trisomy 18
Epicanthus, Spina bifida, Dolichocephaly, Microcephaly, Esophageal atresia, Non-midline cleft lip... ORPHA:3380
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion OMIM:612247
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Anal atresia, Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cleft lip, Cleft p... OMIM:616300
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Iris coloboma, Optic disc coloboma OMIM:169550
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Warburg Micro Syndrome 3
Microcephaly, Brachycephaly, Narrow palate, Downturned corners of mouth, Secondary microcephaly, ... OMIM:614222
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
8Q21.11 Microdeletion Syndrome
Epicanthus, Exaggerated cupid's bow, Abnormality of the dentition, Downturned corners of mouth, H... ORPHA:284160
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Myopathic Ehlers-Danlos Syndrome
High, narrow palate, Pallor ORPHA:536516
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microcephaly, Anteriorly placed anus, Upslanted palpebral fissure, Blepharophimosis, Microphthalm... ORPHA:1352
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microcephaly, Abnormally large globe, Hydrocephalus, Coloboma, Microphthalmia, Progressive microc... OMIM:615249
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... OMIM:612714
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Thin vermilion border, Long philtrum... ORPHA:85194
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pallor ORPHA:163596
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... OMIM:609981
Acrofrontofacionasal Dysostosis
Non-midline cleft lip, Brachycephaly, Cleft palate, Eyelid coloboma, Everted lower lip vermilion,... ORPHA:1784
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H... ORPHA:158057
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal nasolacrimal system morphology, Abnormal dental enamel morphology, Microce... ORPHA:2556
Microphthalmia, Syndromic 6
Anophthalmia, Microcephaly, Orbital cyst, Brachycephaly, Cleft palate, Plagiocephaly, Coloboma, B... OMIM:607932
Fibular Hemimelia
Anophthalmia, Spina bifida, Craniosynostosis ORPHA:93323
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Malabsorption, Abnormal eyelid morphology, Erythema, Cheilitis, Abno... ORPHA:37
Bilateral Perisylvian Polymicrogyria
Intrauterine growth retardation, Microcephaly, Protruding tongue ORPHA:98889
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Microc... OMIM:601701
Charge Syndrome
Delayed eruption of teeth, Ptosis, Epicanthus, Anophthalmia, Highly arched eyebrow, Cleft upper l... ORPHA:138
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Chromosome 17P13.1 Deletion Syndrome
Turricephaly, Epicanthus, Telecanthus, Spina bifida, Microcephaly, Highly arched eyebrow, High, n... OMIM:613776
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea OMIM:235555
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Microcephaly, Optic nerve hypoplasia, Narrow mouth OMIM:614833
1Q21.1 Microdeletion Syndrome
Frontal bossing, Epicanthus, Microcephaly, Hydrocephalus, High palate, Long philtrum, Microphthal... ORPHA:250989
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Ptosis OMIM:615636
Irida Syndrome
Abnormal intestine morphology, Pallor ORPHA:209981
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Frontal bossing, Thin upper lip vermilion, Microcephaly, Thin vermilion border, Severe intrauteri... OMIM:241410
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Pelvis-Shoulder Dysplasia
Spina bifida, Hydrocephalus, Bilateral microphthalmos, Microglossia, Cleft palate, Retinal colobo... ORPHA:2839
Developmental And Epileptic Encephalopathy 84
Epicanthus, Microcephaly, Synophrys, Thick lower lip vermilion, Plagiocephaly, Blepharophimosis, ... OMIM:618792
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus, Agenesis of permanent teeth, Microphthalmia, Anal atresia OMIM:617244
Microphthalmia With Limb Anomalies
Frontal bossing, Abnormal eyebrow morphology, Macrodontia, Cleft upper lip, Hydrocephalus, Cleft ... ORPHA:1106
Adams-Oliver Syndrome 2
Microphthalmia, Hydrocephalus, Narrow palpebral fissure, Microcephaly OMIM:614219
2Q31.1 Microdeletion Syndrome
Epicanthus, Microcephaly, Deep philtrum, Synophrys, Optic disc coloboma, Cleft palate, Downturned... ORPHA:251014
Heart And Brain Malformation Syndrome
Microcephaly, Cleft lip, High, narrow palate, Thick lower lip vermilion, Prominent occiput, Evert... OMIM:616920
Retinitis Pigmentosa 51
Pallor OMIM:613464
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Lelis Syndrome
Carious teeth, Absent lower eyelashes, Furrowed tongue, Upslanted palpebral fissure, Hypodontia, ... ORPHA:140936
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Glossoptosis, Biparietal narrowing, Chorioretinal coloboma, Blepharophimosis, Ptosis ORPHA:2031
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Curry-Jones Syndrome
Intestinal malrotation, Craniosynostosis, Optic disc coloboma, Microphthalmia, Iris coloboma ORPHA:1553
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Holoprosencephaly-Craniosynostosis Syndrome
Epicanthus, Craniosynostosis, Microcephaly, Brachycephaly, Plagiocephaly, Upslanted palpebral fis... ORPHA:2163
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Subaortic Stenosis-Short Stature Syndrome
Microdontia, Microphthalmia, Epicanthus ORPHA:3191
Monosomy 9P
Epicanthus, Highly arched eyebrow, Abnormality of the dentition, Microcephaly, Narrow mouth, Syno... ORPHA:261112
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus, Coloboma OMIM:613153
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Microcephaly, Brachy... OMIM:619244
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, Epicanthus, High, narrow palate, Cleft palate, Anteriorly placed anus, ... OMIM:618494
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Epicanthus, Thick lower lip vermilion, Dental maloccl... OMIM:157980
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Cousin Syndrome
Frontal bossing, Blepharophimosis, Hydrocephalus, Alveolar ridge overgrowth, Cleft palate, Narrow... OMIM:260660
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
X-Linked Dominant Chondrodysplasia Punctata
Frontal bossing, Sparse eyelashes, Sparse eyebrow, High palate, Scaling skin, Microphthalmia, Dow... ORPHA:35173
Hartnup Disorder
Glossitis OMIM:234500
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Blepharophimosis, Ptosis, And Epicanthus Inversus
Telecanthus, Highly arched eyebrow, High palate, Blepharophimosis, Microphthalmia, Epicanthus inv... OMIM:110100
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Neuroocular Syndrome
Synophrys, Lens coloboma, Downturned corners of mouth, Widely spaced teeth, Torus palatinus, Iris... OMIM:619539
Moebius Syndrome
Epicanthus, Abnormality of the dentition, Congenital fibrosis of extraocular muscles, High palate... OMIM:157900
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Downslanted palpebral fissures, Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Ro... OMIM:192445
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Hydrocephalus, Ankyloglossia OMIM:602361
Microphthalmia, Syndromic 9
Blepharophimosis, Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos OMIM:601186
Hallermann-Streiff Syndrome
Frontal bossing, Natal tooth, Telecanthus, Sparse eyelashes, Abnormality of the dentition, Microc... ORPHA:2108
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Galloway-Mowat Syndrome 3
Frontal bossing, Epicanthus, Hiatus hernia, Microcephaly, High palate, Narrow mouth, Microphthalm... OMIM:617729
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hematochezia, Acholic ... OMIM:613812
Chromosome 13Q14 Deletion Syndrome
Frontal bossing, Thin upper lip vermilion, Epicanthus, Deep philtrum, Umbilical hernia, High pala... OMIM:613884
Atelis Syndrome 2
Frontal bossing, Epicanthus, Remnants of the hyaloid vascular system, Microcephaly, Diastema, Thi... OMIM:620185
Pseudotrisomy 13 Syndrome
Encephalocele, Cleft upper lip, Microcephaly, Hydrocephalus, Upslanted palpebral fissure, Holopro... OMIM:264480
Crouzon Syndrome
Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, High p... OMIM:123500
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Microcephaly ORPHA:290
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Sparse eyelashes, Sparse eyebrow, Cleft palate, Eyelid coloboma, Cranium bifidum occu... ORPHA:306542
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Linear Nevus Sebaceus Syndrome
Frontal bossing, Telecanthus, Prominent occiput, Plagiocephaly, Biparietal narrowing, Microphthal... ORPHA:2612
Trisomy 8Q
Non-midline cleft lip, Myelomeningocele, Cleft palate, Orofacial cleft, Upslanted palpebral fissu... ORPHA:1752
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Retinal coloboma ORPHA:363741
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension OMIM:616589
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Osteogenesis Imperfecta, Type Xx
Tented upper lip vermilion, Highly arched eyebrow, Microcephaly, Brachycephaly, Narrow palate, Ag... OMIM:618644
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Exaggerated cupid's bow, Cleft palate, Downturned corners of mouth, High palate, Shor... OMIM:614230
Incontinentia Pigmenti
Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Microcephaly, Erythema, Oligod... OMIM:308300
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hereditary Folate Malabsorption
Pallor, Glossitis, Cheilitis ORPHA:90045
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Hamartoma of tongue, Cleft upper lip, Supernumerary tooth, Myelome... OMIM:311200
Muenke Syndrome
High, narrow palate, Hydrocephalus, Brachycephaly, Plagiocephaly, Coronal craniosynostosis, Ptosis ORPHA:53271
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Secondary microcephaly, Pallor OMIM:613839
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ... OMIM:235200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas... OMIM:618394
Muir-Torre Syndrome
Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, C... ORPHA:587
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Cleft upper lip, Microcephaly, Hydrocephalus, Cleft palate, Buphthalmos, Macroglos... OMIM:613150
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Epicanthus, Narrow mouth, Hydrocep... ORPHA:77301
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy... OMIM:278000
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Secondary microcephaly OMIM:613730
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... ORPHA:220460
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
Ohdo Syndrome, X-Linked
Ptosis, Epicanthus, Hiatus hernia, Sparse eyebrow, Blepharophimosis, Thin vermilion border, High ... OMIM:300895
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
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
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Intrauterine growth retardation, Microcephaly OMIM:610756
Nance-Horan Syndrome
Microphthalmia, Supernumerary tooth, Abnormality of the dentition ORPHA:627
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Familial Adenomatous Polyposis 4
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ... OMIM:617100
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Sparse eyelashes, Microcephaly, Hypoplasia of teeth, Keratoconjunctivitis sicca, Micr... OMIM:234050
Bronchogenic Cyst
Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho... ORPHA:2357
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Intestinal malrotation, Microcephaly, Hydrocephalus, Cleft palate, Orofacial cleft... ORPHA:2166
Cat Eye Syndrome
Anal stenosis, Epicanthus, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, ... OMIM:115470
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Distal Deletion 3P
Ptosis, Epicanthus, Telecanthus, Microcephaly, Brachycephaly, Cleft palate, Downturned corners of... ORPHA:1620
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor, Ptosis ORPHA:13
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Frontal bossing, Coloboma, Shallow orbits OMIM:617306
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Dravet Syndrome
Pallor ORPHA:33069
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune ... ORPHA:436159
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
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Keratoconjunctivitis sicca, Skin ulcer, Abnormality of the dentition ORPHA:1806
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula, Ectropion OMIM:615706
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Joubert Syndrome 18
Lobulated tongue, Occipital encephalocele, Cleft palate, Intrauterine growth retardation OMIM:614815
3Q29 Microdeletion Syndrome
Dental crowding, Abnormality of the dentition, Microcephaly, Orofacial cleft, High palate, Short ... ORPHA:65286
Dubowitz Syndrome
Delayed eruption of teeth, Ptosis, Epicanthus, Telecanthus, Microcephaly, Carious teeth, Velophar... OMIM:223370
Lig4 Syndrome
Epicanthus, Telecanthus, Microcephaly, Malabsorption, Erythema, Brachycephaly, Upslanted palpebra... ORPHA:99812
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Frontal bossing, Epicanthus, Flat occiput, High, narrow palate, Submuc... ORPHA:2780
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Ascites, Gastroesophageal reflux, Hepatomegaly ORPHA:2414
Microphthalmia, Lenz Type
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Microcephaly... ORPHA:568
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Frontal bossing ORPHA:2788
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Martsolf Syndrome 1
Epicanthus, Microcephaly, Brachycephaly, High palate, Short philtrum, Long philtrum, Microphthalm... OMIM:212720
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Craniosynostosis 2
Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern... OMIM:604757
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
Joubert Syndrome 2
Encephalocele, Frontal bossing, Hydrocephalus, Optic disc coloboma, High palate, Chorioretinal co... OMIM:608091
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Mosaic Trisomy 9
Intestinal malrotation, Spina bifida, Microcephaly, Cleft palate, Prominent occiput, Upslanted pa... ORPHA:99776
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Flat occiput, Intestinal malrotation, Bilateral cleft lip and palate, Upslanted palpebral fissure... ORPHA:2001
Galloway-Mowat Syndrome 1
Ptosis, Epicanthus, Flat occiput, Hiatus hernia, Microcephaly, Hypoplasia of the iris, Wide mouth... OMIM:251300
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Microcephaly OMIM:246450
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos, Microcephaly ORPHA:77299
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Long palpebral fissure... ORPHA:531151
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Dental malocclusion, Unilateral narrow palpebral fis... OMIM:618727
Branchioskeletogenital Syndrome
Synophrys, Brachycephaly, Anteriorly placed anus, Downturned corners of mouth, Eyelid coloboma, S... ORPHA:1299
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Carey-Fineman-Ziter Syndrome
Epicanthus, Aplasia/Hypoplasia of the tongue, Microcephaly, Pierre-Robin sequence, Cleft palate, ... ORPHA:1358
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... ORPHA:137888
Ritscher-Schinzel Syndrome 3
Thin upper lip vermilion, Highly arched eyebrow, Chorioretinal coloboma, Microphthalmia, Downslan... OMIM:619135
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
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, Exaggerated cupid's bow, Microcephaly, Sparse eyebrow, Hi... ORPHA:464738
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Fumarase Deficiency
Frontal bossing, Necrotizing enterocolitis, Microcephaly, Conjunctival icterus, High palate, Pallor OMIM:606812
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Microcephaly, Cleft palate, Pla... OMIM:614749
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:212550
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Basal Cell Nevus Syndrome 1
Frontal bossing, Odontogenic keratocysts of the jaw, Spina bifida, Cleft upper lip, Hydrocephalus... OMIM:109400
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
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Abnormal eyebrow morphology, Abnormal eyelid morphology ORPHA:2221
Bartsocas-Papas Syndrome 1
Absent eyebrow, Anal stenosis, Ablepharon, Ectropion, Cleft upper lip, Cicatricial lagophthalmos,... OMIM:263650
Au-Kline Syndrome
Craniosynostosis, Sagittal craniosynostosis, Lagophthalmos, Lipomyelomeningocele, Dental malocclu... OMIM:616580
Myelofibrosis
Pallor, Purpura OMIM:254450
Dominant Beta-Thalassemia
Frontal bossing, Abnormality of the dentition, Skin ulcer, Upslanted palpebral fissure, Pallor ORPHA:231226
Monosomy 13Q14
Ptosis, Epicanthus, Microcephaly, Holoprosencephaly, Trigonocephaly, Microphthalmia, Iris colobom... ORPHA:1587
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Kapur-Toriello Syndrome
Intestinal malrotation, Orofacial cleft, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2328
Oculodentodigital Dysplasia
Epicanthus, Selective tooth agenesis, Cleft upper lip, Carious teeth, Microcephaly, Blepharophimo... OMIM:164200
Xeroderma Pigmentosum, Complementation Group D
Entropion, Microcephaly, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Ectropion OMIM:278730
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Hypoplastic iris stroma, Macular hyp... ORPHA:2334
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Hydrocephalus, Orofacial cleft, Narrow mouth, Microphthalmia, Iris colobom... ORPHA:3301
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
Cerebrooculofacioskeletal Syndrome 4
Microcephaly, Bilateral microphthalmos, Short philtrum, Blepharophimosis, Intrauterine growth ret... OMIM:610758
Bosma Arhinia Microphthalmia Syndrome
Cleft lip, Synophrys, Dental malocclusion, Lacrimal duct atresia, Cleft palate, Hypoplasia of tee... OMIM:603457
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Abnormal eyelid morphology, Brachycephaly, Upper eyelid coloboma, O... ORPHA:2095
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Refsum Disease
Microphthalmia, Dry skin, Ptosis ORPHA:773
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Proboscis, Microcephaly, Alobar holoprosenceph... OMIM:157170
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... ORPHA:424016
Stromme Syndrome
Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Microcephaly, Hydrocephalus, Cle... OMIM:243605
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Lower eyelid coloboma, Clef... OMIM:616367
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Frontal bossing, Absent eyebrow, Epicanthus, Sparse eyelashes, Absent ... OMIM:268400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Craniosynostosis, Microcephaly, Cleft palate, Furrowed tongue, Plagiocephaly, Downturned corners ... ORPHA:453499
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Kapur-Toriello Syndrome
Intestinal malrotation, Cleft upper lip, Cleft palate, Retinal coloboma, Microphthalmia, Iris col... OMIM:244300
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
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
Micro Syndrome
Microcephaly, High palate, Short philtrum, Retinal coloboma, Microphthalmia, Intrauterine growth ... ORPHA:2510
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Microcephaly, High, narrow palate, Cleft palate, Microph... ORPHA:2714
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Lymphadenopathy, Achalasia ORPHA:3386
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Microcephaly, Pierre-Robin sequence, Cleft palate, Upslanted palpebral ... OMIM:611209
Orofaciodigital Syndrome Iv
Epicanthus, Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High pa... OMIM:258860
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Chorioretinal ... OMIM:120200
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Exagger... ORPHA:1507
Anterior Segment Dysgenesis 2
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia OMIM:610256
Rodrigues Blindness
Microphthalmia, Tooth malposition OMIM:268320
Imerslund-Gräsbeck Syndrome
Pallor, Glossitis, Angular cheilitis ORPHA:35858
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Fanconi Anemia, Complementation Group C
Epicanthus, Anemic pallor, Microcephaly, Microphthalmia, Intrauterine growth retardation OMIM:227645
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ... ORPHA:779
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... ORPHA:1655
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Frontal bossing, Turricephaly, Epicanthus, Aganglionic megacolon, Microcephaly, Hydrocephalus, Pl... OMIM:613603
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, High palate OMIM:619053
Treacher Collins Syndrome 1
Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Bilateral microphthalmos, Uppe... OMIM:154500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Agnathia-Otocephaly Complex
Aglossia, Cleft palate, Holoprosencephaly, Narrow mouth, Microglossia, Downslanted palpebral fiss... OMIM:202650
Focal Dermal Hypoplasia
Abnormal dental morphology, Abnormal dental enamel morphology, Spina bifida, Abnormality of the d... ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Microcephaly, Meningoencephaloc... OMIM:236670
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Epicanthus, Dolichocephaly, Carious teeth,... OMIM:620186
Beta-Thalassemia Major
Frontal bossing, Abnormality of the dentition, Skin ulcer, Upslanted palpebral fissure, Pallor ORPHA:231214
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Epicanthus, Microcephaly, Carious teeth, Blepharophimosis, Synophrys, C... OMIM:616734
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Iris coloboma OMIM:269400
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... OMIM:175200
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Esophageal varix, Microphthalmia, Calvarial skull defect ORPHA:974
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Intrauterine growth retardation, Optic nerve hypoplasia, Microcephaly OMIM:617914
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Frontal bossing, Absent eyebrow, Abnormal dental morphology, Abnormal dental enamel morphology, P... ORPHA:85199
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Epicanthus, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morpholog... ORPHA:2759
Holoprosencephaly 1
Proboscis, Microcephaly, Alobar holoprosencephaly, Microphthalmia, Cyclopia, Ethmocephaly, Midfac... OMIM:236100
Charge Syndrome
Ptosis, Anal stenosis, Anophthalmia, Cleft upper lip, Microcephaly, Esophageal atresia, Tracheoes... OMIM:214800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Frontal bossing, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, ... OMIM:614643
Mosaic Trisomy 1
Frontal bossing, Thick lower lip vermilion, Cleft palate, Orofacial cleft, Short upper lip, Wide ... ORPHA:1692
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Nasolacrimal duct obstruction, Macular hypoplasia, Retinal... OMIM:612109
Letterer-Siwe Disease
Stomatitis, Pallor OMIM:246400
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Histiocytoid Cardiomyopathy
Hydrocephalus, Cleft palate, Pallor, Microphthalmia, Congenital aphakia ORPHA:137675
Nance-Horan Syndrome
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... OMIM:302350
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Pancytopenia, Autoimmune hemoly... OMIM:614700
Lymphedema-Distichiasis Syndrome
Ectropion, Cleft upper lip, Cleft palate, Conjunctivitis, Microphthalmia, Distichiasis, Ptosis OMIM:153400
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
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Microcephaly, Malabsorption, Keratoconjunctivitis sicca, Microphthalmia, ... OMIM:601675
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Gingival bleeding ORPHA:98870
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Short philtrum, Abnormal dental enamel morphology, Spina bifida, Mult... ORPHA:567
Intellectual Developmental Disorder, Autosomal Dominant 29
Frontal bossing, Thin upper lip vermilion, Ptosis, Dental crowding, Synophrys, Brachycephaly, Nar... OMIM:616078
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant ... ORPHA:2137
Cleidocranial Dysplasia
Delayed eruption of teeth, Frontal bossing, Abnormal dental enamel morphology, Abnormality of the... ORPHA:1452
Hypomandibular Faciocranial Dysostosis
Pursed lips, Coronal craniosynostosis, Optic disc coloboma, Aglossia OMIM:241310
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Cerebrocostomandibular Syndrome
Spina bifida, Microcephaly, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranence... ORPHA:1393
Retinitis Pigmentosa 75
Pallor OMIM:617023
Warburg Micro Syndrome 2
Microphthalmia, Secondary microcephaly, Brachycephaly, Microcephaly OMIM:614225
Fanconi Anemia
Abnormal eyelid morphology, High palate, Spina bifida, Aplasia/Hypoplasia of the uvula, Aplasia/H... ORPHA:84
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Meckel Syndrome, Type 1
Anal atresia, Thin upper lip vermilion, Natal tooth, Occipital encephalocele, Intestinal malrotat... OMIM:249000
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, Microphthalmia OMIM:613001
Myopathy, Mitochondrial, And Ataxia
High palate, Pallor OMIM:617675
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... OMIM:603903
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Glossoptosis, Midface retrusion, Cleft palate ORPHA:440354
Caroli Disease
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Robinow Syndrome, Autosomal Dominant 3
Frontal bossing, Epicanthus, Telecanthus, Cleft lip, Dental malocclusion, Gingival overgrowth, Cl... OMIM:616894
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Lymph node hypoplasia, T lymphocyt... OMIM:300755
Autosomal Dominant Robinow Syndrome
High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligodontia, Short ... ORPHA:3107
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Right ventricular hypertrophy OMIM:616028
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Holzgreve Syndrome
Turricephaly, Aplasia/Hypoplasia of the tongue, Cleft palate, Intrauterine growth retardation, Bi... ORPHA:2167
Ramos-Arroyo Syndrome
Frontal bossing, Aganglionic megacolon, Carious teeth, Dacryocystitis, Xerostomia, Nasolacrimal d... ORPHA:1051
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, Aganglionic megacolon, Cleft upper lip, Microcephaly, High, narrow... OMIM:309800
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Eyelid coloboma, Chorioretinal colobom... ORPHA:268249
Mend Syndrome
Telecanthus, Asymmetry of the mouth, Hydrocephalus, Cleft palate, Upslanted palpebral fissure, Hi... ORPHA:401973
Mohr Syndrome
Telecanthus, Median cleft lip, Accessory oral frenulum, Hydrocephalus, Cleft palate, Tongue nodul... OMIM:252100
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Frontal bossing, Epicanthus, Stomach cancer, Microcephaly, Cleft palate, Co... ORPHA:1052
Choreoacanthocytosis
Blepharospasm, Protruding tongue ORPHA:2388
Aicardi Syndrome
Intestinal polyposis, Cleft upper lip, Hiatus hernia, Malabsorption, Microcephaly, Optic disc col... ORPHA:50
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Cleft upper lip, Blepharophimosis, Limbal dermoid, Hydroce... OMIM:164210
Steinfeld Syndrome
Retinal coloboma, Holoprosencephaly, Microphthalmia, Iris coloboma, Bifid uvula, Median cleft lip... OMIM:184705
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:620269
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Carey-Fineman-Ziter Syndrome 1
Epicanthus, Microcephaly, Lagophthalmos, Pierre-Robin sequence, Cleft palate, Plagiocephaly, Glos... OMIM:254940
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Microcephaly, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia ORPHA:3201
Duane-Radial Ray Syndrome
Anal stenosis, Epicanthus, Aganglionic megacolon, Optic disc hypoplasia, Retinal coloboma, Microp... OMIM:607323
Fryns Syndrome
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Non-... ORPHA:2059
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Retinal capillary hemangioma, Pallor ORPHA:29072
Fanconi Anemia, Complementation Group D2
Anemic pallor, Microcephaly, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Blepha... OMIM:227646
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Esophageal varix,... OMIM:263200
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Renpenning Syndrome 1
Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Microcephaly, Brachycephaly, Clef... OMIM:309500
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations, Progressive microcephaly OMIM:614678
Yunis-Varon Syndrome
Redundant neck skin, Abnormal occipital bone morphology, High, narrow palate, Broad secondary alv... ORPHA:3472
Tay-Sachs Disease
Pallor OMIM:272800
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Congenital Fibrinogen Deficiency
Microphthalmia, Volvulus, Gingival bleeding ORPHA:335
Hereditary Acrokeratotic Poikiloderma
Turricephaly, Premature loss of primary teeth, Abnormality of the dentition, Open bite, Erythema,... ORPHA:2907
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Synophrys, Brachycephaly, Widely spaced teeth, High palate, Microdontia, Bifid uvula, Highly arch... OMIM:612474
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Orofaciodigital Syndrome Type 1
Frontal bossing, Epicanthus, Median cleft lip, Telecanthus, Abnormal dental enamel morphology, Ac... ORPHA:2750
Congenital Myopathy 13
Telecanthus, Microcephaly, Brachycephaly, Cleft palate, Downturned corners of mouth, High palate,... OMIM:255995
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Frontal bossing, Narrow philtrum, Thin vermilion border, Thin calvariu... OMIM:601812
Waldenström Macroglobulinemia
Purpura, Pallor, Gingival bleeding, Malabsorption ORPHA:33226
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Penetrating foot ulcers, Buphthalmos, Difficulty in tongue movements, Ptosis ORPHA:99956
Fanconi Anemia, Complementation Group E
Microphthalmia, Anemic pallor, Microcephaly OMIM:600901
Robinow Syndrome, Autosomal Dominant 1
Dental crowding, Short lingual frenulum, Orofacial cleft, Downturned corners of mouth, High palat... OMIM:180700
Oculocerebrorenal Syndrome Of Lowe
Flat occiput, Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Abnormal dental enamel m... ORPHA:534
Orofaciodigital Syndrome Type 6
Frontal bossing, Epicanthus, Hamartoma of tongue, Highly arched eyebrow, Cleft palate, Midline no... ORPHA:2754
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Erythem... ORPHA:464
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Pierre-Robin sequence, Hydrocephalus, Cleft palate, Glossoptosis... ORPHA:90652
Peroxisome Biogenesis Disorder 12A (Zellweger)
Epicanthus, Microcephaly, Hydrocephalus, Scaphocephaly, Cranial asymmetry OMIM:614886
Chondrodysplasia Punctata 2, X-Linked Dominant
Frontal bossing, Sparse eyelashes, Sparse eyebrow, Microphthalmia, Downslanted palpebral fissures OMIM:302960
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ... ORPHA:567983
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate, Microcephaly OMIM:618356
Sepsis In Premature Infants
Pallor, Enterocolitis, Petechiae, Purpura ORPHA:90051
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Frontal bossing, Craniosynostosis, Microcephaly, Blepharophimosis, Scaphocephaly, Thick vermilion... OMIM:620005
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Fanconi Anemia, Complementation Group A
Microphthalmia, Anemic pallor, Microcephaly OMIM:227650
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Frontal bossing, Natal tooth, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Brachyceph... OMIM:617925
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Meckel Syndrome 14
Holoprosencephaly, Microphthalmia, Decreased calvarial ossification, Occipital encephalocele OMIM:619879
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Cleft lip, Pyloric stenosis, Tracheoesophageal fistula... ORPHA:1199
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Mandibuloacral Dysplasia
Dental crowding, Abnormally large globe, Abnormal tongue morphology, Hypoplasia of teeth, High pa... ORPHA:2457
Fanconi Anemia, Complementation Group L
Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Upslanted palpebral f... OMIM:614083
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi... ORPHA:512
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Myhre Syndrome
Thin upper lip vermilion, Microcephaly, Cleft lip, Cleft palate, Narrow palpebral fissure, Short ... OMIM:139210
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Non-Functioning Pituitary Adenoma
Pallor, Ptosis ORPHA:91349
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Septo-optic dysplasia, Hooded eyelid, Synophrys, Posterior plagiocep... OMIM:619841
Senior-Loken Syndrome 8
Pallor OMIM:616307
Isolated Biliary Atresia
Hepatomegaly, Hypopituitarism, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic ... ORPHA:30391
Hypoglossia-Hypodactylia
Epicanthus, Microglossia, Aglossia, Narrow mouth OMIM:103300
Odontoonychodermal Dysplasia
Sparse eyebrow, Erythema, Abnormality of primary teeth, Agenesis of permanent teeth, Conical inci... OMIM:257980
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... OMIM:614162
Congenital Tracheal Stenosis
Fetal ascites, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel ... ORPHA:141127
Trichothiodystrophy
Epicanthus, Ectropion, Craniosynostosis, Microcephaly, Carious teeth, High, narrow palate, Bilate... ORPHA:33364
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Childhood Absence Epilepsy
Pallor ORPHA:64280
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Unilateral ptosis, Thin upper lip vermilion, Optic nerve hypoplasia, Spina bifida, Microcephaly, ... ORPHA:508498
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Neu-Laxova Syndrome 1
Ablepharon, Spina bifida, Cleft upper lip, Swollen lip, Absent eyelashes, Thick lower lip vermili... OMIM:256520
Alternating Hemiplegia Of Childhood
Downturned corners of mouth, Exaggerated cupid's bow, Pallor, Thin eyebrow ORPHA:2131
Pituitary Apoplexy
Pallor, Ptosis ORPHA:95613
Orofaciodigital Syndrome Xiv
Natal tooth, Occipital encephalocele, Telecanthus, Hamartoma of tongue, Microcephaly, Cleft lip, ... OMIM:615948
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Frontal bossing, Turricephaly, Flat occiput, Dental crowding, Sagittal... OMIM:614188
Orofaciodigital Syndrome Vi
Epicanthus, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomple... OMIM:277170
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus OMIM:616538
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Smith-Lemli-Opitz Syndrome
Biparietal narrowing, Holoprosencephaly, Advanced eruption of teeth, Iris coloboma, Abnormal dent... ORPHA:818
Marshall-Smith Syndrome
Irregular dentition, Synophrys, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate... OMIM:602535
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Median cleft lip, Microcephaly, Orofacial cleft, Holoprosencephaly, Microphthalmia, Cyclopia, Iri... ORPHA:3186
Acro-Renal-Ocular Syndrome
Epicanthus, Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Coloboma, Choriore... ORPHA:959
Diamond-Blackfan Anemia
Epicanthus, Cleft soft palate, Microcephaly, Cleft lip, High palate, Pallor, Adenocarcinoma of th... ORPHA:124
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... ORPHA:1572
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly OMIM:253800
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Prolactinoma
Pallor, Ptosis ORPHA:2965
X-Linked Agammaglobulinemia
Glossoptosis, Conjunctivitis, Skin ulcer, Malabsorption ORPHA:47
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Thin upper lip vermilion, Thick eyebrow, Microcephaly, Diastema, Furrowed tongue, Upslanted palpe... OMIM:300534
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Ptosis OMIM:614153
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Craniosynostosis, Abnormal occipital bone morphology, Microcephaly, Bilat... ORPHA:468631
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Microcephaly ORPHA:20
Familial Exudative Vitreoretinopathy
Microphthalmia, Microcephaly ORPHA:891
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Epicanthus, Craniosynostosis, Microcephaly, Parietal foramina, Antecubital pterygium, Popliteal p... OMIM:609945
Agel Amyloidosis
Tongue atrophy, Bilateral ptosis, Xerostomia, Cutis laxa, Keratoconjunctivitis sicca, Blepharocha... ORPHA:85448
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Baller-Gerold Syndrome
Brachycephaly, Anteriorly placed anus, High palate, Spina bifida occulta, Bifid uvula, Sagittal c... OMIM:218600
Linear Skin Defects With Multiple Congenital Anomalies 1
Microcephaly, Hydrocephalus, Cleft palate, Anteriorly placed anus, Colonic atresia, Microphthalmi... OMIM:309801
Chand Syndrome
Cleft palate, Agenesis of permanent teeth, Dry skin, Ankyloblepharon, Abnormal oral frenulum morp... ORPHA:1401
Moebius Syndrome
Epicanthus, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Everted ... ORPHA:570
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Lacrimal duct atresia, Delayed eruption of primary teeth OMIM:300952
Aicardi Syndrome
Spina bifida, Hiatus hernia, Cleft upper lip, Microcephaly, Optic disc coloboma, Cleft palate, Mi... OMIM:304050
Pallister-Hall Syndrome
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Holoprosencephaly, Microphtha... OMIM:146510
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Psoriasis 14, Pustular
Erythema, Geographic tongue, Furrowed tongue OMIM:614204
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations, Ptosis ORPHA:276198
Cockayne Syndrome B
Delayed eruption of primary teeth, Microcephaly, Carious teeth, Dental malocclusion, Hypoplasia o... OMIM:133540
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Furrowed tongue, Keratoconjunctivitis sicca, Microd... OMIM:148210
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Premature loss of primary teeth, Craniosynostosis, Hydrocephalus, Pallor ORPHA:667
Robinow Syndrome, Autosomal Recessive 1
Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival ... OMIM:268310
Adams-Oliver Syndrome 1
Encephalocele, Cleft upper lip, Microcephaly, Cleft palate, Microphthalmia, Calvarial skull defect OMIM:100300
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor, Peptic ulcer ORPHA:98849
Roberts Syndrome
Craniosynostosis, Cleft upper lip, Microcephaly, Brachycephaly, Cleft palate, High palate, Severe... ORPHA:3103
Familial Mediterranean Fever
Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis, Pancreatitis, Lymphad... ORPHA:342
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Narrow mouth, Microphthalmia, Cryptophthalmos, Anal atresia OMIM:617666
Elsahy-Waters Syndrome
Synophrys, Brachycephaly, Anteriorly placed anus, High palate, Bifid uvula, Abnormality of the an... OMIM:211380
Adenohypophysitis
Pallor ORPHA:95512
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Frontal bossing, Epicanthus, Exaggerated cupid's bow, Spina bifida, Narrow mouth, Plagiocephaly, ... OMIM:619480
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Intrauterine growth retardation, Meckel ... OMIM:311900
Aregenerative Anemia
Pallor ORPHA:101096
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Dental malocclusion, High palate, Microphthalmia, Spontaneous conjunctival filtering bleb, Downsl... OMIM:601552
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Panhypophysitis
Pallor ORPHA:95513
Fanconi Anemia, Complementation Group F
Microphthalmia, Intrauterine growth retardation, Microcephaly, Duodenal atresia OMIM:603467
Short-Rib Thoracic Dysplasia 12
Natal tooth, Epicanthus, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Hydroceph... OMIM:269860
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Microphthalmia, Iris coloboma OMIM:221900
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ... ORPHA:958
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Saethre-Chotzen Syndrome
Abnormal nasolacrimal system morphology, Parietal foramina, Oxycephaly, Brachycephaly, Narrow pal... OMIM:101400
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Erythema, Pallor, Steatorrhea OMIM:557000
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Microcep... OMIM:609049
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Hypoglossia-Hypodactyly Syndrome
Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodo... ORPHA:989
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Bifid uvula, Midface retrusion, Cleft palate ORPHA:1427
Fryns Syndrome
Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cleft upper lip, Esoph... OMIM:229850
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Pallor, Ganglioneuroma... ORPHA:653
Robinow Syndrome
Frontal bossing, Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival ove... ORPHA:97360
Orofaciodigital Syndrome Type 2
Natal tooth, Telecanthus, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of max... ORPHA:2751
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Cleft palate, Glossoptosis, Downslanted palpebral fissures, Iris coloboma ORPHA:436003
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Papillorenal Syndrome
Orbital cyst, Microphthalmia, Optic disc coloboma, Retinal coloboma OMIM:120330
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Frontal bossing, Thin upper lip vermilion, Branchial fistula, Epic... OMIM:613406
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Phace Syndrome
Optic nerve hypoplasia, Microcephaly, Lens coloboma, Abnormality of the orbital region, Microphth... ORPHA:42775
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas,... ORPHA:93111
Phace Association
Microphthalmia, Optic nerve hypoplasia, Horner syndrome OMIM:606519
Orofaciodigital Syndrome Type 14
Telecanthus, Hamartoma of tongue, Accessory oral frenulum, Microcephaly, Supernumerary tooth, Apl... ORPHA:434179
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
Catel-Manzke Syndrome
Cleft upper lip, Pierre-Robin sequence, Nasolacrimal duct obstruction, Cleft palate, Upslanted pa... OMIM:616145
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Microcephaly OMIM:610651
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... ORPHA:2752
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Redundant neck skin,... ORPHA:2729
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Tetraamelia Syndrome 2
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate OMIM:618021
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Epicanthus, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis OMIM:277380
Cerebrocostomandibular Syndrome
Anal stenosis, Epicanthus, Cleft soft palate, Microcephaly, Carious teeth, Cleft lip, Pierre-Robi... OMIM:117650
Isolated Arrhinia
Microphthalmia, Eyelid coloboma ORPHA:1134
Stuve-Wiedemann Syndrome 1
Frontal bossing, Pursed lips, Carious teeth, Thin vermilion border, Smooth tongue, Premature skin... OMIM:601559
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Tongue fasciculations, Ptosis OMIM:211530
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Rabson-Mendenhall Syndrome
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... ORPHA:769
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
Cockayne Syndrome
Abnormal dental morphology, Delayed eruption of primary teeth, Carious teeth, Abnormal number of ... ORPHA:191
Tarp Syndrome
Thick eyebrow, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abno... ORPHA:2886
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... OMIM:619381
Idiopathic Hypereosinophilic Syndrome
Colitis, Pallor, Malabsorption ORPHA:3260
Roberts-Sc Phocomelia Syndrome
Craniosynostosis, Cleft upper lip, Microcephaly, Hydrocephalus, Frontal encephalocele, Brachyceph... OMIM:268300
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Abnormality of dental color, Cranial asymmetry OMIM:163200
Tsh-Secreting Pituitary Adenoma
Pallor, Ptosis ORPHA:91347
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis OMIM:175500
Hartnup Disease
Glossitis, Gingivitis, Malabsorption ORPHA:2116
Distal Deletion 15Q
Thin upper lip vermilion, Flat occiput, Abnormality of the dentition, Microcephaly, Cleft palate,... ORPHA:1596
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thin upper lip vermilion, Thick eyebrow, Epicanthus, Optic nerve hypoplasia, High... ORPHA:508488
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Pallor, Intussusception, Acute colitis ORPHA:544482
Pallister-Hall Syndrome
Natal tooth, Ptosis, Accessory oral frenulum, Cleft lip, Scaphocephaly, Cleft palate, Umbilical h... ORPHA:672
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Ectodermal Dysplasia And Immunodeficiency 2
Aplasia of the sweat glands, Splenomegaly, Recurrent infection of the gastrointestinal tract, Hep... OMIM:612132
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Coloboma ORPHA:85167
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess OMIM:600145
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Microcephaly, Pyloric stenosis, Submucous cleft... OMIM:235730
Giant Cell Arteritis
Glossitis, Skin ulcer, Ptosis ORPHA:397
Cowden Syndrome 5
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:615108
Tetraamelia Syndrome 1
Cleft upper lip, Hydrocephalus, Cleft palate, Microphthalmia, Anal atresia OMIM:273395
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Intrauterine growth retardation, Glossitis, Cleft palate ORPHA:79284
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Cowden Syndrome 6
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:615109
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Pallor ORPHA:892
Hydrolethalus Syndrome 1
Median cleft lip, Anencephaly, Cleft palate, Severe hydrocephalus, Microphthalmia, Intrauterine g... OMIM:236680
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Synophrys, Downturned corners of mouth, Short philtrum, Premature loss of ... ORPHA:3455
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy, Optic nerve hypoplasia ORPHA:101085
Stickler Syndrome
Epicanthus, Telecanthus, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft pal... ORPHA:828
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Cockayne Syndrome Type 3
Carious teeth, Keratoconjunctivitis sicca, Microphthalmia, Enamel hypoplasia, Progressive microce... ORPHA:90324
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Microcephaly, Hydrocephalus, Stomatitis, Intrauterine growth retardation, Gloss... ORPHA:79282
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden... ORPHA:1359
Cowden Syndrome 1
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth OMIM:158350
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Oral mucosal blisters, Erythema, Smooth tongue, Enamel hypoplasia ORPHA:79396
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
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
Ulnar-Mammary Syndrome
Anal stenosis, Small scrotum, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Pyloric... OMIM:181450
Mucoepithelial Dysplasia, Hereditary
Erythematous oral mucosa, Keratoconjunctivitis, Furrowed tongue OMIM:158310
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Cleft hard palate, Short philtrum, Iris coloboma, Bifid uvula, Abnormal dental m... ORPHA:261537
Viss Syndrome
Chronic gastritis, High, narrow palate, Brachycephaly, High palate, Broad uvula, Bifid uvula, Cle... OMIM:619472
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Mowat-Wilson Syndrome
Dental crowding, Cleft hard palate, Widely spaced teeth, Iris coloboma, Bifid uvula, Abnormal den... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Cleft hard palate, Short philtrum, Bifid uvula, Iris coloboma, Abnormal dental m... ORPHA:261552
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Intrauterine growth retardation, Bilateral microphthalmos, Persistence of primary ... ORPHA:93325
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Microcephaly OMIM:259770
Pachyonychia Congenita 3
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue OMIM:615726
Kawasaki Disease
Cheilitis, Conjunctivitis, Palmoplantar erythema, Glossitis, Ptosis ORPHA:2331
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis ORPHA:247353
Townes-Brocks Syndrome
Rectoperineal fistula, Blepharophimosis, Anteriorly placed anus, Wide mouth, Rectovaginal fistula... ORPHA:857
Charcot-Marie-Tooth Disease Type 4C
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations ORPHA:99949
Norrie Disease
Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Microcephaly, Hypoplasia... ORPHA:649
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
Williams Syndrome
Colonic diverticula, Hypoplasia of penis, Hypogonadotropic hypogonadism, Peptic ulcer, Malabsorpt... ORPHA:904
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
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
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Enamel hypoplasia OMIM:309000
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
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:175780
Microsporidiosis
Glossitis, Keratoconjunctivitis ORPHA:2552
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Smooth tongue, Abnormality of the dentition ORPHA:3206
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.

There is no histopathology data for Tmem209

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 Tmem209.

No publications found that use IMPC mice or data for Tmem209.

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
Tmem209em1(IMPC)Tcp Exon Deletion Mice, Tissue
Tmem209tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tmem209tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tmem209tm39362(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tmem209tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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