Gene Summary

Name:
transmembrane protein 209
Synonyms:
2700094F01Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Gross Morphology Embryo E18.5

Images

77 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

Histopathology

Images

2 Images

Immunophenotyping

Panel B FCS file(s)

3 Images

Immunophenotyping

Panel A FCS file(s)

3 Images

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