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Gene: Tmem209 MGI:1919899

Gene Summary

Name:

transmembrane protein 209

Synonyms:

2700094F01Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
abnormal embryo size	Tmem209^em1(IMPC)Tcp	HOM	E18.5
abnormal head shape	Tmem209^em1(IMPC)Tcp	HOM	E18.5
exencephaly	Tmem209^em1(IMPC)Tcp	HOM	E18.5
anophthalmia	Tmem209^em1(IMPC)Tcp	HOM	E18.5
microphthalmia	Tmem209^em1(IMPC)Tcp	HOM	E18.5
abnormal seminal vesicle morphology	Tmem209^em1(IMPC)Tcp	HET	Early adult
enlarged spleen	Tmem209^em1(IMPC)Tcp	HET	Early adult
abnormal embryo size	Tmem209^em1(IMPC)Tcp	HET	E18.5
pallor	Tmem209^em1(IMPC)Tcp	HOM	E18.5
abnormal stomach morphology	Tmem209^em1(IMPC)Tcp	HET	Early adult
abnormal head size	Tmem209^em1(IMPC)Tcp	HOM	E18.5
abnormal eyelid fusion	Tmem209^em1(IMPC)Tcp	HOM	E18.5
abnormal placenta morphology	Tmem209^em1(IMPC)Tcp	HOM	E18.5
male infertility	Tmem209^em1(IMPC)Tcp	HOM	Early adult
enlarged lymph nodes	Tmem209^em1(IMPC)Tcp	HET	Early adult
preweaning lethality, incomplete penetrance	Tmem209^em1(IMPC)Tcp	HOM	Early adult
protruding tongue	Tmem209^em1(IMPC)Tcp	HOM	E18.5

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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.

Gross Morphology Embryo E18.5

Images

77 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel A FCS file(s)

3 Images

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Immunophenotyping

Panel B 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.

Human diseases associated with Tmem209 (0 diseases)
Human diseases predicted to be associated with Tmem209 (1130 diseases)

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	Matching phenotypes	Source
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 35	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe...	OMIM:618341
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 62	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619937
Spermatogenic Failure 43	Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 49	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Anencephaly 2	Short palpebral fissure, Anophthalmia, Cleft maxillary alveolar ridge, Anencephaly, Median cleft ...	OMIM:619452
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Iris coloboma, Holoprosencephaly, Microphthalmia, Chorior...	OMIM:611638
Spermatogenic Failure 33	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618152
Spermatogenic Failure 37	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618429
Spermatogenic Failure 18	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:617576
Spermatogenic Failure 46	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:619095
Spermatogenic Failure 27	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:617965
Spermatogenic Failure 72	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular...	OMIM:619867
Spermatogenic Failure 34	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:618153
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 1	Oligospermia, Cryptozoospermia, Male infertility	OMIM:258150
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Spermatogenic Failure 7	Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm	OMIM:612997
Spermatogenic Failure 11	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 5	Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head	OMIM:243060
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 16	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617187
Spermatogenic Failure 44	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:619044
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 47	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:619102
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia	OMIM:619108
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Ankyloblepharon, Microphthalmia, Anophthalmia	ORPHA:85275
Spermatogenic Failure 58	Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog...	OMIM:619585
Spermatogenic Failure 40	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell...	OMIM:618664
Spermatogenic Failure 76	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:620084
Spermatogenic Failure, X-Linked, 3	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:301059
Spermatogenic Failure 56	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:619515
Spermatogenic Failure 78	Microcephalic sperm head, Male infertility, Tapered sperm head	OMIM:620170
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure 65	Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m...	OMIM:619712
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:618670
Spermatogenic Failure 70	Oligospermia, Reduced sperm motility, Azoospermia, Male infertility	OMIM:619828
Spermatogenic Failure 42	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf...	OMIM:618745
Spermatogenic Failure 39	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe...	OMIM:618643
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology	OMIM:619696
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619528
Spermatogenic Failure 54	Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,...	OMIM:619379
Spermatogenic Failure 25	Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo...	OMIM:617960
Male Infertility Due To Acephalic Spermatozoa	Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep...	ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Male infertility, Immotile sperm	OMIM:608653
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia	OMIM:619831
Spermatogenic Failure 63	Oligospermia, Male infertility, Reduced progressive sperm motility	OMIM:619689
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia	OMIM:619145
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Hepatomegaly	ORPHA:294
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia	OMIM:618110
9q subtelomeric deletion syndrome	Synophrys, Protruding tongue, Midface retrusion, Microcephaly	DECIPHER:52
Fryns Microphthalmia Syndrome	Microphthalmia, Bilateral cleft lip and palate, Anophthalmia, Neural tube defect	OMIM:600776
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Iris coloboma, Anophthalmia, Chorioretinal coloboma	OMIM:616428
Microcephaly-Microcornea Syndrome, Seemanova Type	Brachycephaly, High palate, Epicanthus, Narrow mouth, Microphthalmia, Microcephaly, Upslanted pal...	ORPHA:2528
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Deafness-Infertility Syndrome	Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit...	OMIM:611102
Partial Chromosome Y Deletion	Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia	ORPHA:1646
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract	ORPHA:52416
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Oculocerebrocutaneous Syndrome	Anophthalmia, Orbital encephalocele, Eyelid coloboma, Microphthalmia, Cleft palate, Orbital cyst	OMIM:164180
Cerebrooculonasal Syndrome	Brachycephaly, Sparse eyebrow, High palate, Anophthalmia, Long philtrum, Epicanthus, Widely space...	ORPHA:66625
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Isolated, With Coloboma 4	Coloboma, Microphthalmia, Orbital cyst	OMIM:251505
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Anophthalmia Plus Syndrome	Non-midline cleft lip, Anophthalmia, Spina bifida, Blepharophimosis, Iris coloboma, Eyelid colobo...	ORPHA:1104
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Hartsfield Syndrome	Downslanted palpebral fissures, Non-midline cleft lip, Encephalocele, Lobar holoprosencephaly, Pt...	ORPHA:2117
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Skull asymmetry, Bifid uvula, Hydrocephalus, Secondary microcephaly, Protruding tongue, Alveolar ...	OMIM:612938
Microphthalmia, Syndromic 8	Short palpebral fissure, Cleft upper lip, Blepharophimosis, Premature skin wrinkling, Microphthal...	OMIM:601349
Carcinoma Of Esophagus	Gastroesophageal reflux, Esophageal neoplasm, Lymphadenopathy, Abnormal intestine morphology, Dys...	ORPHA:70482
Meckel Syndrome, Type 8	Cleft upper lip, Encephalocele, Anophthalmia, Microphthalmia, Microcephaly, Cleft palate, Occipit...	OMIM:613885
Spermatogenic Failure 21	Infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617644
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Brachycephaly, Horizontal eyebrow, Wide mouth, Protruding tongue, Flat occiput, Thick eyebrow, Gi...	OMIM:618797
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Microcephaly	OMIM:616335
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Down Syndrome	Brachycephaly, Narrow palate, Epicanthus, Thick lower lip vermilion, Microdontia, Aganglionic meg...	ORPHA:870
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Abnormal calvaria morphology, Microphthalmia, Median cleft palate	ORPHA:2432
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Portal Hypertension, Noncirrhotic, 1	Esophageal varix, Portal hypertension, Splenomegaly, Hepatomegaly	OMIM:617068
Gombo Syndrome	Microphthalmia, Microcephaly	OMIM:233270
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Intellectual Developmental Disorder, Autosomal Dominant 58	Downslanted palpebral fissures, High palate, Plagiocephaly, Wide mouth, Submucous cleft hard pala...	OMIM:618106
Microphthalmia, Syndromic 16	Microphthalmia, Ankyloblepharon, Anophthalmia	OMIM:611038
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Poirier-Bienvenu Neurodevelopmental Syndrome	Open mouth, Downturned corners of mouth, Protruding tongue, Smooth philtrum	OMIM:618732
Ring Chromosome 22 Syndrome	Epicanthus, Midface retrusion, Dolichocephaly, Protruding tongue, Microcephaly, Thick eyebrow, Th...	ORPHA:1446
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Craniosynostosis, Arrhinencephaly, Hydrocephalus, Frontal bossing, Microph...	ORPHA:1528
Microphthalmia, Isolated, With Coloboma 7	Coloboma, Microphthalmia	OMIM:614497
Microphthalmia, Isolated 8	Short palpebral fissure, Anophthalmia, Entropion, Optic nerve hypoplasia, True anophthalmia, Micr...	OMIM:615113
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Synophrys, Long eyelashes, Short philtrum, Everted lower lip vermilion, Abnormal sp...	ORPHA:411986
Spermatogenic Failure 75	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619949
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma	OMIM:613703
Hemoglobin H Disease	Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly	OMIM:613978
Kleefstra Syndrome 1	Brachycephaly, Natal tooth, Synophrys, Midface retrusion, Macroglossia, Everted lower lip vermili...	OMIM:610253
Spermatogenic Failure 38	Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility...	OMIM:618433
Congenital Disorder Of Glycosylation, Type Iia	Brachycephaly, Downslanted palpebral fissures, Wide mouth, Long eyelashes, Diastema, Everted lowe...	OMIM:212066
Cerebrooculonasal Syndrome	Brachycephaly, Epicanthus, Optic nerve hypoplasia, Iris coloboma, Sparse eyelashes, Cleft palate,...	OMIM:605627
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Solitary Median Maxillary Central Incisor	Cleft upper lip, Coloboma, Anophthalmia, Prominent median palatal raphe, Torus palatinus, Solitar...	OMIM:147250
Isochromosomy Yp	Male infertility, Azoospermia	ORPHA:98797
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Baraitser-Winter Syndrome 2	Coloboma, Long philtrum, Wide mouth, Long palpebral fissure, Ptosis, Thin upper lip vermilion, Se...	OMIM:614583
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Anteriorly placed anus, Eyelid coloboma, Microphthalmia, Nasolacrimal duct obstruct...	OMIM:248450
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F	ORPHA:46532
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Icf Syndrome	Epicanthus, Malabsorption, Communicating hydrocephalus, Macroglossia, Protruding tongue, Umbilica...	ORPHA:2268
Microcephaly 26, Primary, Autosomal Dominant	Long philtrum, Long palpebral fissure, Prominent eyelashes, Protruding tongue, Microcephaly, Trig...	OMIM:619179
Non-Distal Trisomy 10Q	Brachycephaly, Downslanted palpebral fissures, Aplasia/Hypoplasia affecting the eye, High palate,...	ORPHA:1695
Acrocallosal Syndrome	Coloboma, Everted upper lip vermilion, Epicanthus, Bifid uvula, Abnormal oral frenulum morphology...	OMIM:200990
Raine Syndrome	Brachycephaly, Downslanted palpebral fissures, Enamel hypoplasia, High palate, Plagiocephaly, Wid...	OMIM:259775
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microphthalmia, Syndromic 13	Widely-spaced incisors, Ptosis, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcephaly	OMIM:300915
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Hydrolethalus	Anophthalmia, Gingival cleft, Anencephaly, Arrhinencephaly, Bifid uvula, Submucous cleft hard pal...	ORPHA:2189
Pierre Robin Sequence With Facial And Digital Anomalies	Cleft palate, Pierre-Robin sequence, Glossoptosis, Frontal bossing	OMIM:311895
Facial Clefting, Oblique, 1	Cleft palate, Coloboma, Cleft upper lip, Microphthalmia	OMIM:600251
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Cleft palate, Intrauterine growth retardation, Microcephaly	OMIM:616570
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Hydrocephalus, Microphthalmia, Occipital encephalocele, Orofacial cleft	ORPHA:324416
Pierpont Syndrome	Brachycephaly, Widely spaced teeth, Primary microcephaly, Narrow palpebral fissure, Everted lower...	ORPHA:487825
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Prostate cancer, Biliary t...	ORPHA:157798
Frontofacionasal Dysplasia	Brachycephaly, Non-midline cleft lip, Aplasia/Hypoplasia of the eyebrow, Encephalocele, Blepharop...	ORPHA:1791
Kleefstra Syndrome Due To 9Q34 Microdeletion	Brachycephaly, Synophrys, Midface retrusion, Macroglossia, Everted lower lip vermilion, Downturne...	ORPHA:96147
Immunodeficiency 104	Gastroesophageal reflux, T lymphocytopenia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:608971
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Conical tooth, Brachycephaly, Encephalocele, Coronal craniosynostosis, Frontal bossing, Calvarial...	ORPHA:228390
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft upper lip, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Cleft palate	OMIM:120433
Alpha-Heavy Chain Disease	Anemia, Malabsorption, Lymphadenopathy, Hepatomegaly, Abnormal small intestine morphology, Ascite...	ORPHA:100025
Joubert Syndrome 1	Plagiocephaly, Epicanthus, Macroglossia, Ptosis, Protruding tongue, Occipital myelomeningocele, T...	OMIM:213300
Craniotelencephalic Dysplasia	Frontal encephalocele, Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia, Craniosynostosis	OMIM:218670
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Pyloric stenosis, Abnormal platelet morphology, Abnormal intestine morpho...	ORPHA:2978
Immunodeficiency 84	Splenomegaly, B lymphocytopenia, Perianal abscess	OMIM:619437
Pierpont Syndrome	Brachycephaly, Unilateral narrow palpebral fissure, Prominent median palatal raphe, Blepharophimo...	OMIM:602342
Congenital Sialidosis Type 2	Petechiae, Hydrocephalus, Hypoplasia of the fovea, Protruding tongue, Gingival overgrowth, Umbili...	ORPHA:93400
Angelman Syndrome	Brachycephaly, Wide mouth, Widely spaced teeth, Macroglossia, Secondary microcephaly, Protruding ...	OMIM:105830
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Downslanted palpebral fissures, High palate, Epicanthus, Synophrys, Thin eyebrow, Everted lower l...	OMIM:617804
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H...	OMIM:619126
Kimura Disease	Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia	ORPHA:482
Mmep Syndrome	Microcephaly, Orofacial cleft, Microphthalmia, Median cleft lip	ORPHA:3434
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Splenomegaly, Gastric varix	OMIM:613490
Angelman Syndrome Due To A Point Mutation	Wide mouth, Widely spaced teeth, Cessation of head growth, Secondary microcephaly, Protruding ton...	ORPHA:411511
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Cleft upper lip, Brachyturricephaly, Optic nerve hypoplasia, Frontal bos...	OMIM:607597
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly, Hepatomegaly	OMIM:606445
Tyrosinemia Type 1	Hepatocellular carcinoma, Splenomegaly, Hepatomegaly	ORPHA:882
Trisomy 13	Anophthalmia, Long philtrum, Aplasia/Hypoplasia of the iris, Median cleft lip, Iris coloboma, Mic...	ORPHA:3378
Frontonasal Dysplasia 3	Brachycephaly, Upper eyelid coloboma, Absent eyebrow, Microphthalmia, Sparse eyelashes, Cleft palate	OMIM:613456
Nasopalpebral Lipoma-Coloboma Syndrome	Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Coloboma, Absent lacrimal punctum, ...	OMIM:167730
2Q24 Microdeletion Syndrome	Downslanted palpebral fissures, Coloboma, Short philtrum, Abnormal oral frenulum morphology, Micr...	ORPHA:1617
Oculotrichoanal Syndrome	Cryptophthalmos, Anophthalmia, Anteriorly placed anus, Upper eyelid coloboma, Microphthalmia, Nas...	ORPHA:2717
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Epicanthus, Thick lower lip vermilion, Midface retrusion, Macroglossia, Diastema, Protruding tong...	OMIM:301040
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Microphthalmia With Limb Anomalies	Short palpebral fissure, Downslanted palpebral fissures, Cleft upper lip, High palate, Anophthalm...	OMIM:206920
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Fontaine Progeroid Syndrome	Brachycephaly, Synophrys, Microdontia, Midface retrusion, Everted lower lip vermilion, Smooth phi...	OMIM:612289
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Leukocyte Adhesion Deficiency Type Ii	Skin vesicle, Narrow palate, Deep philtrum, Broad eyebrow, Long eyelashes, Severe periodontitis, ...	ORPHA:99843
Congenital Disorder Of Glycosylation, Type Iie	Short palpebral fissure, Primary microcephaly, Thick vermilion border, Progressive microcephaly, ...	OMIM:608779
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Wide mouth, Widely spaced teeth, Cessation of head growth, Secondary microcephaly, Protruding tongue	ORPHA:98795
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Colitis, Splenomegaly	OMIM:619164
Intellectual Developmental Disorder, Autosomal Dominant 26	Short palpebral fissure, Downslanted palpebral fissures, Brachycephaly, Wide mouth, Epicanthus, D...	OMIM:615834
Pierre Robin Syndrome	Cleft palate, Pierre-Robin sequence, Glossoptosis	OMIM:261800
Ritscher-Schinzel Syndrome 2	Upslanted palpebral fissure, Protruding tongue, Short philtrum	OMIM:300963
Microphthalmia, Isolated 4	Coloboma, Microphthalmia	OMIM:613094
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Malabsorption, Protruding tongue, Macroglossia, Epicanthus	OMIM:242860
Temtamy Syndrome	Thick lower lip vermilion, Dolichocephaly, Iris coloboma, Abnormal palate morphology, Microphthal...	ORPHA:1777
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi...	ORPHA:444463
Developmental And Epileptic Encephalopathy 80	High palate, Long philtrum, Wide mouth, Protruding tongue, Smooth philtrum, Upslanted palpebral f...	OMIM:618580
Braddock-Carey Syndrome 2	Downslanted palpebral fissures, Pierre-Robin sequence, Wide mouth, Microphthalmia, Microcephaly, ...	OMIM:619981
Mast Cell Sarcoma	Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:66661
Frontofacionasal Dysplasia	Brachycephaly, S-shaped palpebral fissures, Cleft upper lip, Hypoplasia of the frontal bone, Cran...	OMIM:229400
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ...	OMIM:133180
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit...	ORPHA:543
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation, Microcephaly	ORPHA:291
Bartsocas-Papas Syndrome 2	Ankyloblepharon, Prominent occiput, Axillary pterygium, Antecubital pterygium, Popliteal pterygiu...	OMIM:619339
Gómez-López-Hernández Syndrome	Brachycephaly, Turricephaly, Hydrocephalus, Midface retrusion, Thin vermilion border, Telecanthus	ORPHA:1532
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:616950
Microphthalmia, Isolated, With Coloboma 3	Iris coloboma, Microphthalmia	OMIM:610092
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Wide mouth, Widely spaced teeth, Cessation of head growth, Secondary microcephaly, Protruding ton...	ORPHA:98794
Hyperbilirubinemia, Shunt, Primary	Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ...	OMIM:237800
Proboscis Lateralis	Abnormal nasolacrimal system morphology, Epicanthus, Abnormality of the ocular adnexa, Optic nerv...	ORPHA:141099
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Splenomegaly	ORPHA:664
Potocki-Shaffer Syndrome	Brachycephaly, Downslanted palpebral fissures, Parietal foramina, Sparse lateral eyebrow, Turrice...	OMIM:601224
Cat-Eye Syndrome	Downslanted palpebral fissures, Anal atresia, Iris coloboma, Microphthalmia, Chorioretinal colobo...	ORPHA:195
Microphthalmia With Brain And Digit Anomalies	High palate, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcephaly	ORPHA:139471
Fetal Alcohol Syndrome	Non-midline cleft lip, Epicanthus, Microdontia, Biparietal narrowing, Ptosis, Thin upper lip verm...	ORPHA:1915
Spermatogenic Failure 2	Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia	OMIM:108420
Whistling Face Syndrome, Recessive Form	Short palpebral fissure, High palate, Long philtrum, Epicanthus, Blepharophimosis, Midface retrus...	OMIM:277720
Marshall-Smith Syndrome	Craniosynostosis, Open mouth, Protruding tongue, Gingival overgrowth	ORPHA:561
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Isochromosomy Yq	Male infertility, Azoospermia	ORPHA:98798
Peroxisome Biogenesis Disorder 1A (Zellweger)	High palate, Brachyturricephaly, Epicanthus, Macroglossia, Redundant neck skin, Protruding tongue...	OMIM:214100
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Malabsorption, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease...	ORPHA:79301
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Iris coloboma, Holopr...	ORPHA:77298
Okur-Chung Neurodevelopmental Syndrome	High palate, Epicanthus, Synophrys, Ptosis, Epicanthus inversus, Thin upper lip vermilion, Protru...	OMIM:617062
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Downslanted palpebral fissures, Optic nerve hypoplasia, Spina bifida occulta, Ptos...	OMIM:618736
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Dermatitis, Atopic	Conjunctivitis, Pallor, Dry skin, Facial erythema	OMIM:603165
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	High palate, Midface retrusion, Tooth agenesis, Microphthalmia, Cleft palate	ORPHA:1135
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Monosomy 18P	Brachycephaly, Epicanthus, Hypodontia, Short philtrum, Ptosis, Downturned corners of mouth, Holop...	ORPHA:1598
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Downslanted palpebral fissures, Sparse eyebrow, Deep philtrum, Epicanthus, Synophrys, Short philt...	OMIM:620098
Isolated Pierre Robin Syndrome	Cleft palate, Glossoptosis	ORPHA:718
Clark-Baraitser Syndrome	Brachycephaly, High palate, Long philtrum, Wide mouth, Epicanthus, Narrow palpebral fissure, Shor...	OMIM:617752
Juvenile Sialidosis Type 2	Protruding tongue, Gingival overgrowth, Umbilical hernia	ORPHA:93399
Frontonasal Dysplasia 2	Short palpebral fissure, Sparse eyebrow, Conical tooth, Brachycephaly, Encephalocele, Anterior pl...	OMIM:613451
Nanophthalmos	Microphthalmia	ORPHA:35612
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Frontonasal Dysplasia 1	Anterior basal encephalocele, Cranium bifidum occultum, Coloboma, Epicanthus, Median cleft lip, P...	OMIM:136760
Colorectal Cancer	Neoplasm of the stomach, Uterine leiomyosarcoma, Hereditary nonpolyposis colorectal carcinoma	OMIM:114500
Holoprosencephaly	Spinal dysraphism, Epicanthus, Synophrys, Median cleft lip, Iris coloboma, Holoprosencephaly, Too...	ORPHA:2162
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Splenomegaly, Hepatomegaly	OMIM:619462
Chromosome 1Q41-Q42 Deletion Syndrome	Downslanted palpebral fissures, Sparse eyebrow, Cleft upper lip, High palate, Deep philtrum, Wide...	OMIM:612530
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Syndromic Recessive X-Linked Ichthyosis	Hypogonadism, Abnormal stomach morphology, Testicular seminoma, Cryptorchidism, Acute leukemia	ORPHA:281090
Baraitser-Winter Syndrome 1	Cleft upper lip, Long philtrum, Wide mouth, Epicanthus, Midface retrusion, Long palpebral fissure...	OMIM:243310
Bresek Syndrome	Plagiocephaly, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Iris coloboma, Micro...	ORPHA:85284
Congenital Myopathy 13	Short palpebral fissure, Downslanted palpebral fissures, Brachycephaly, High palate, Blepharophim...	OMIM:255995
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly, Hepatomegaly	OMIM:616622
Biemond Syndrome Type 2	Coloboma, Hydrocephalus, Microphthalmia	ORPHA:141333
Otodental Syndrome	Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul...	ORPHA:2791
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Plagiocephaly, Anophthalmia, Long philtrum, Dolichocephaly, Abnormal size of the palpebral fissur...	ORPHA:1101
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Microphthalmia, Microcephaly	OMIM:274270
Pfapa Syndrome	Malabsorption, Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:42642
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism...	ORPHA:64743
Trisomy 1Q	Downslanted palpebral fissures, Anophthalmia, Hydrocephalus, Anal atresia, Frontal bossing, Narro...	ORPHA:261344
Angelman Syndrome	Wide mouth, Widely spaced teeth, Ptosis, Protruding tongue, Flat occiput, Microcephaly	ORPHA:72
Cornelia De Lange Syndrome 2	Brachycephaly, Downslanted palpebral fissures, High palate, Synophrys, Long eyelashes, Ptosis, Th...	OMIM:300590
Progressive Familial Intrahepatic Cholestasis	Malabsorption, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly	ORPHA:172
Developmental Delay With Variable Neurologic And Brain Abnormalities	Sparse lateral eyebrow, Widely spaced teeth, Microdontia, Long palpebral fissure, Microphthalmia,...	OMIM:619694
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly	OMIM:224100
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Primary Lateral Sclerosis, Juvenile	Difficulty in tongue movements, Pallor	OMIM:606353
Spinocerebellar Ataxia Type 32	Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Meckel Syndrome, Type 4	Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Microphthalmia, Microcephaly, Cleft palat...	OMIM:611134
Sandestig-Stefanova Syndrome	High palate, Epicanthus, Primary microcephaly, Sparse medial eyebrow, Laterally extended eyebrow,...	OMIM:618804
Cockayne Syndrome Type 2	Conjunctivitis, Enamel hypoplasia, Anophthalmia, Delayed eruption of primary teeth, Anodontia, Wi...	ORPHA:90322
Acute Myelomonocytic Leukemia	Abnormality of the gingiva, Pallor	ORPHA:517
Nanophthalmos 4	Microphthalmia	OMIM:615972
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Everted lower lip vermilion, Protruding tongue, Smooth philtrum	ORPHA:324410
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, High palate, Plagiocephaly, Epicanthus, Short philtrum, Dolichocephaly, Alobar hol...	OMIM:615433
Meckel Syndrome, Type 5	Cleft upper lip, Anencephaly, Microphthalmia, Cleft palate, Occipital encephalocele	OMIM:611561
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Ptosis, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Bilateral cleft lip and palate	ORPHA:1473
Xk Aprosencephaly Syndrome	Anal atresia, Narrow mouth, Microphthalmia, Microcephaly	ORPHA:3469
X-Linked Dystonia-Parkinsonism	Blepharospasm, Protruding tongue	ORPHA:53351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Microphthalmia	OMIM:614830
Cholestasis-Lymphedema Syndrome	Cirrhosis, Malabsorption, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly	OMIM:214900
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Downslanted palpebral fissures, Epicanthus, Hydrocephalus, Microphthalmia, Smooth philtrum	OMIM:602501
Ring Chromosome 10 Syndrome	Downslanted palpebral fissures, Long philtrum, Aganglionic megacolon, Frontal bossing, Microphtha...	ORPHA:1438
Meckel Syndrome, Type 2	Meningocele, Encephalocele, Anencephaly, Intestinal malrotation, Microphthalmia, Cleft palate, In...	OMIM:603194
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Chromosome 3Pter-P25 Deletion Syndrome	Brachycephaly, High palate, Long philtrum, Epicanthus, Macular hypoplasia, Synophrys, Blepharophi...	OMIM:613792
Craniosynostosis 6	Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, Right unilambdoid synostosis, Spin...	OMIM:616602
Cofs Syndrome	Microphthalmia, Everted lower lip vermilion, Intrauterine growth retardation, Microcephaly	ORPHA:1466
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel...	OMIM:602450
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Colitis, Thrombocytopenia, Splenom...	OMIM:613101
Kleefstra Syndrome 2	Plagiocephaly, Bifid uvula, Midface retrusion, Everted lower lip vermilion, Microcephaly, Thick e...	OMIM:617768
Optic Atrophy 1	Pallor	OMIM:165500
Microphthalmia, Syndromic 5	Coloboma, Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Cleft palate	OMIM:610125
Oculodentodigital Dysplasia, Autosomal Recessive	Short palpebral fissure, Downslanted palpebral fissures, Dental malocclusion, Brachycephaly, Long...	OMIM:257850
Degcags Syndrome	Plagiocephaly, Synophrys, Abnormal eyelash morphology, Smooth philtrum, Intestinal atresia, Abnor...	OMIM:619488
Walker-Warburg Syndrome	Anophthalmia, Bifid uvula, Submucous cleft hard palate, Hydrocephalus, Iris coloboma, Microphthal...	ORPHA:899
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:86893
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Microcephaly	OMIM:278780
Holoprosencephaly 7	Synophrys, Midface retrusion, Lobar holoprosencephaly, Median cleft lip, Iris coloboma, Holoprose...	OMIM:610828
Autoimmune Hemolytic Anemia, Cold Type	Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly	ORPHA:228312
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Fanconi Anemia, Complementation Group S	Thick upper lip vermilion, Dental malocclusion, Narrow palate, Epicanthus, Blepharophimosis, Long...	OMIM:617883
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Lipomas of eyelids, Coloboma, Lacrimal punctal atresia, Dolichocephaly, Bilateral...	ORPHA:2399
Neurooculocardiogenitourinary Syndrome	Coloboma, Epicanthus, Redundant neck skin, Downturned corners of mouth, Secondary microcephaly, M...	OMIM:618652
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis	OMIM:269600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Microphthalmia, Microcephaly, Macroglossia	OMIM:613155
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Nodular goiter, Colon cancer, Chronic noninfectious lymphadenopat...	ORPHA:97290
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Short philtrum, Platybasia, Frontal bossing, Cloverleaf skull, Downturned corners of mouth, Micro...	ORPHA:93267
Camptodactyly Syndrome, Guadalajara Type 1	Brachycephaly, Dental malocclusion, High palate, Epicanthus, Spina bifida, Synophrys, Blepharophi...	ORPHA:1327
Plummer-Vinson Syndrome	Esophageal web, Tongue atrophy, Glossitis, Pallor, Narrow mouth, Intra-oral hyperpigmentation, Ch...	ORPHA:54028
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cryptophthalmos, Coloboma, Anophthalmia, Epicanthus, Long philtrum, Long eyelashes, Microphthalmia	OMIM:615877
Spermatogenic Failure 77	Multiflagellar spermatozoa, Oligospermia, Male infertility, Azoospermia	OMIM:620103
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the rectum, Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding, Anal canal s...	ORPHA:424019
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly, Downslanted palpebral fissures, Long philtrum, Bilateral ptosis, Deep philtrum, Bl...	ORPHA:404440
Pitt-Hopkins-Like Syndrome 2	Protruding tongue, Wide mouth	OMIM:614325
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg...	ORPHA:846
Retinitis Pigmentosa 27	Pallor	OMIM:613750
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Downslanted palpebral fissures, Long philtrum, Deep philtrum, Epicanthus, Thick lower lip vermili...	OMIM:152950
Hallermann-Streiff Syndrome	Brachycephaly, Selective tooth agenesis, Everted lower lip vermilion, Iris coloboma, Sparse eyela...	OMIM:234100
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, Medial flaring of the eyebrow, Widely spaced teeth, Microdontia, Premature loss of...	OMIM:617364
8Q12 Microduplication Syndrome	Brachycephaly, Long philtrum, Epicanthus, Long palpebral fissure, Everted lower lip vermilion, Na...	ORPHA:228399
Hypertriglyceridemia, Transient Infantile	Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly	OMIM:614480
Joubert Syndrome 14	Meningocele, Downslanted palpebral fissures, Encephalocele, Coloboma, Epicanthus, Hydrocephalus, ...	OMIM:614424
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia...	OMIM:615285
Splenoportal Vascular Anomalies	Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly	OMIM:271500
Holoprosencephaly 9	Dental malocclusion, Agenesis of incisor, Cleft upper lip, Anophthalmia, Hydrocephalus, Short phi...	OMIM:610829
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Downslanted palpebral fissures, High palate, Long philtrum, Epicanthus, Short philtrum, Frontal b...	OMIM:614105
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Iris coloboma, Microphthalmia	OMIM:610023
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly	OMIM:610293
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:100024
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Brachycephaly, High palate, Long philtrum, Epicanthus, Long palpebral fissure, Frontal bossing, D...	ORPHA:163649
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Horizontal eyebrow, High palate, Plagiocephaly, Wide mouth, Epicanthus, Widely spa...	ORPHA:369891
Follicular Lymphoma	Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum	ORPHA:545
Deafness, X-Linked 7	Ptosis, Telecanthus, Thick eyebrow, Unilateral microphthalmos	OMIM:301018
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Nodular goiter, Colon cancer, Chronic noninfectious lymphadenopat...	ORPHA:319487
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Ptosis, Pallor	OMIM:613561
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short palpebral fissure, Downslanted palpebral fissures, High palate, Pierre-Robin sequence, Glos...	OMIM:613604
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Intrauterine growth retardation, Microcephaly	OMIM:616171
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ...	OMIM:614470
Vacterl With Hydrocephalus	Anophthalmia, Aqueductal stenosis, Esophageal atresia, Spina bifida, Arrhinencephaly, Hydrocephal...	ORPHA:3412
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm...	OMIM:619375
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Narrow mouth, Gingival overgrowth	OMIM:230600
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo...	OMIM:615513
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,...	OMIM:603552
Immunodeficiency 69	Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly	OMIM:618963
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly	ORPHA:75234
Warburg Micro Syndrome 1	Ptosis, Narrow mouth, Microphthalmia, Microcephaly, Thin vermilion border	OMIM:600118
Breath-Holding Spells	Pallor	OMIM:607578
3Q29 Microduplication Syndrome	Downslanted palpebral fissures, High palate, Ectopic anus, Deep philtrum, Biparietal narrowing, I...	ORPHA:251038
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi...	OMIM:617514
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Protruding tongue, Microcephaly	OMIM:619580
Auriculocondylar Syndrome 2	Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Ptosis, Narrow mouth, Microg...	OMIM:614669
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, High palate, Oligodontia, Narrow palpebral fissure, Frontal bossing, Microcephaly,...	OMIM:600325
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly, Downslanted palpebral fissures, Epicanthus, Primary microcephaly, Synophrys, Long ...	OMIM:618828
Developmental And Epileptic Encephalopathy 100	Short palpebral fissure, Enamel hypoplasia, High palate, Synophrys, Microdontia, Protruding tongu...	OMIM:619777
Budd-Chiari Syndrome	Cirrhosis, Malabsorption, Jaundice, Esophageal varix, Cholecystitis, Gastrointestinal infarctions...	ORPHA:131
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Coloboma, Shallow orbits, Microphthalmia, Frontal bossing	OMIM:617306
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Malabsorption, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasi...	OMIM:602347
Coproporphyria, Hereditary	Jaundice, Increased fecal coproporphyrin 3, Hepatomegaly, Increased fecal coproporphyrin III:copr...	OMIM:121300
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma, Anal atresia, Unilateral microphthalmos, Bilateral microphthalmos, Microcephaly, Unilat...	OMIM:619318
Seckel Syndrome 2	Microdontia, Microglossia, Microphthalmia, Microcephaly	OMIM:606744
Intrinsic Factor Deficiency	Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distribution width, Increased me...	OMIM:261000
Down Syndrome	Brachycephaly, Epicanthus, Aganglionic megacolon, Macroglossia, Duodenal stenosis, Redundant neck...	OMIM:190685
Cataract 9, Multiple Types	Iris coloboma, Microphthalmia	OMIM:604219
Skin Creases, Congenital Symmetric Circumferential, 1	Short palpebral fissure, Brachycephaly, High palate, Long philtrum, Epicanthus, Blepharophimosis,...	OMIM:156610
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Stevenson-Carey Syndrome	Brachycephaly, Downslanted palpebral fissures, Pierre-Robin sequence, Coloboma, Downturned corner...	OMIM:611961
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Short upper lip, High palate, Wide mouth, Epicanthus, Thick lower lip vermilion, Midface retrusio...	OMIM:309580
Temtamy Syndrome	Downslanted palpebral fissures, Long philtrum, Frontal bossing, Iris coloboma, Microphthalmia, Ch...	OMIM:218340
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Frontorhiny	Encephalocele, Cranium bifidum occultum, Bifid tongue, Epicanthus, Basal encephalocele, Ptosis, I...	ORPHA:391474
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Downslanted palpebral fissures, Long philtrum, Thick lower lip vermilion, Optic nerve hypoplasia,...	ORPHA:137634
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Pierre-Robin sequence, Synophrys, Thin eyebrow, Oligodontia, Everted low...	ORPHA:364577
Hemochromatosis, Type 2B	Hepatic fibrosis, Anemia, Cirrhosis, Hypogonadism, Hepatomegaly, Splenomegaly	OMIM:613313
Fraser Syndrome 1	Difficulty in tongue movements, Cleft upper lip, Cryptophthalmos, Myelomeningocele, Encephalocele...	OMIM:219000
Hemifacial Atrophy, Progressive	Dental malocclusion, Horner syndrome, Delayed eruption of teeth, Blepharophimosis, Tongue atrophy...	OMIM:141300
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Male infertility, Obstructive azoospermia	ORPHA:48
Cebalid Syndrome	Brachycephaly, Downslanted palpebral fissures, High palate, Plagiocephaly, Turricephaly, Midface ...	OMIM:618774
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Horizontal eyebrow, Long philtrum, Deep philtrum, Epicanthus, Narrow palpebral fissure, Dolichoce...	OMIM:618571
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Long philtrum, Hydrocephalus, Long eyelashes, Midface retrusion, Un...	OMIM:618577
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thick upper lip vermilion, Plagiocephaly, Epicanthus, Short lingual frenulum, Microdontia, Promin...	OMIM:617360
Oculocerebrofacial Syndrome, Kaufman Type	Short palpebral fissure, Brachycephaly, Wide mouth, Epicanthus, Blepharophimosis, Microdontia, Th...	ORPHA:2707
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Anophthalmia, Long philtrum,...	ORPHA:2526
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Intrauterine growth retardation, Microcephaly	ORPHA:858
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Brachycephaly, Encephalocele, High palate, Epicanthus, Delayed eruption of t...	OMIM:619148
Familial Melanoma	Neoplasm of the stomach, Abnormality of the lymphatic system, Neoplasm of the pancreas	ORPHA:618
Chopra-Amiel-Gordon Syndrome	Brachycephaly, Pierre-Robin sequence, Short philtrum, Midface retrusion, Almond-shaped palpebral ...	OMIM:619504
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Brachycephaly, Downslanted palpebral fissures, Exencephaly, Encephalocele, Long philtrum, Ptosis,...	ORPHA:2211
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Esophageal varix, Hepatocellular carcinoma, Hepatomega...	OMIM:619463
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Gastric adenocarcinoma, Fundic gland polyposis, Melena	OMIM:619182
Catel-Manzke Syndrome	Cleft palate, Oral synechia, Highly arched eyebrow, Glossoptosis	ORPHA:1388
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Ankyloblepharon, Cryptophthalmos, Microphthalmia	OMIM:123570
Cataract-Intellectual Disability-Hypogonadism Syndrome	Brachycephaly, High palate, Short philtrum, Midface retrusion, Everted lower lip vermilion, Micro...	ORPHA:1387
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Fraser Syndrome	Dental malocclusion, Cleft upper lip, Cryptophthalmos, Myelomeningocele, Encephalocele, Anophthal...	ORPHA:2052
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly, Coloboma, Cutis laxa, Microphthalmia, Dry skin	OMIM:612379
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Microphthalmia, Retinal coloboma	OMIM:601794
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Blepharophimosis, Microdontia, Ptosis, Microphthalmia, Microcephaly, Cleft p...	ORPHA:2728
Richieri-Costa/Guion-Almeida Syndrome	Brachycephaly, Downslanted palpebral fissures, Cleft upper lip, Palmoplantar cutis laxa, Spina bi...	OMIM:268850
Erythrocytosis, Familial, 8	Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly	OMIM:222800
Meckel Syndrome	Aplasia/Hypoplasia of the tongue, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, An...	ORPHA:564
Microgastria-Limb Reduction Defect Syndrome	Plagiocephaly, Anophthalmia, Esophageal atresia, Arrhinencephaly, Perineal fistula, Anal atresia,...	ORPHA:2538
Matthew-Wood Syndrome	Microphthalmia, Intrauterine growth retardation, Duodenal stenosis, Anophthalmia	ORPHA:2470
Lissencephaly 8	Occipital encephalocele, Microphthalmia, Microcephaly	OMIM:617255
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Lymphoproliferative Syndrome, X-Linked, 2	Hepatitis, Pancytopenia, Inflammation of the large intestine, Hemophagocytosis, Hepatomegaly, Col...	OMIM:300635
Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:98293
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Wide mouth, Hydrocephalus, Short philtrum, Frontal bossing, Microphthalmia, Intrauterine growth r...	ORPHA:163966
Achondrogenesis, Type Ia	Protruding tongue, Turricephaly	OMIM:200600
Oculofaciocardiodental Syndrome	Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Submucous cleft hard pa...	ORPHA:2712
Fanconi Anemia, Complementation Group G	Microphthalmia, Microcephaly	OMIM:614082
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Primary microcephaly	OMIM:615771
Immunodeficiency 64 With Lymphoproliferation	Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In...	OMIM:618534
Fetal Trimethadione Syndrome	Brachycephaly, High palate, Epicanthus, Synophrys, Midface retrusion, Ptosis, Microcephaly, Intra...	ORPHA:1913
Fish-Eye Disease	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:79292
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, I...	ORPHA:2250
Spermatogenic Failure 14	Male infertility, Azoospermia, Late spermatogenesis maturation arrest	OMIM:615842
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Brachycephaly, Downslanted palpebral fissures, High palate, Pyloric stenosis, Frontal bossing, Th...	ORPHA:314575
Nk-Cell Enteropathy	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,...	ORPHA:263665
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Ectopic anus, Short philtrum, Downturned corners of mouth, Cleft palate, Highly ar...	ORPHA:94066
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Splenomegaly, Cholestasis, Hepatomegaly	OMIM:620010
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Ptosis, Long philtrum, Tented upper lip vermilion	OMIM:619972
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip, Microphthalmia	OMIM:614402
Spherocytosis, Type 5	Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S...	OMIM:612690
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Ulcerative colitis, Lymphopen...	OMIM:618935
Wolman Disease	Anemia, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Esophageal varix, Ascites, Splenomegaly	ORPHA:75233
Treacher-Collins Syndrome	Brachycephaly, Blepharospasm, Midface retrusion, Iris coloboma, Tooth agenesis, Cleft palate, Glo...	ORPHA:861
Robin Sequence-Oligodactyly Syndrome	Cleft palate, Glossoptosis, Abnormality of the dentition	ORPHA:3104
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg...	OMIM:615631
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Horizontal eyebrow, High palate, Epicanthus, Thick lower lip vermilion, Frontal bo...	OMIM:615828
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Microphthalmia, Microcephaly	OMIM:308350
Crouzon Syndrome	Conjunctivitis, Brachycephaly, Narrow palate, Turricephaly, Hydrocephalus, Midface retrusion, Fro...	ORPHA:207
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Fanconi Anemia, Complementation Group I	Pallor, Optic nerve hypoplasia, Microphthalmia, Microcephaly, Intrauterine growth retardation	OMIM:609053
Jacobsen Syndrome	Epicanthus, Macular hypoplasia, Pyloric stenosis, Hydrocephalus, Ptosis, Iris coloboma, Eyelid co...	OMIM:147791
Trichothiodystrophy 3, Photosensitive	Natal tooth, Pyloric stenosis, Eclabion, Meckel diverticulum, Microphthalmia, Ectropion, Trigonoc...	OMIM:616395
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Long eyelashes, Intrauterine growth retardation	ORPHA:48431
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
14Q22Q23 Microdeletion Syndrome	Brachycephaly, Downslanted palpebral fissures, Anophthalmia, Epicanthus, Optic nerve aplasia, Pto...	ORPHA:264200
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia	OMIM:618086
German Syndrome	Brachycephaly, Downslanted palpebral fissures, Abnormal eyebrow morphology, High palate, Synophry...	ORPHA:2077
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Acholic stools, Portal fibrosis, Hepatomegaly, Splenomegaly	OMIM:619868
Deafness-Craniofacial Syndrome	Bifid tongue, Short lingual frenulum, Short philtrum, Frontal bossing, Abnormal palate morphology...	ORPHA:3241
Joubert Syndrome 21	Ptosis, Occipital encephalocele, Anophthalmia	OMIM:615636
Nephronophthisis 19	Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,...	OMIM:616217
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal...	OMIM:615234
Cyclic Vomiting Syndrome	Microcephaly, Pallor	OMIM:500007
Momo Syndrome	Thick upper lip vermilion, Downslanted palpebral fissures, Dental malocclusion, Brachycephaly, Hi...	ORPHA:2563
Orofaciodigital Syndrome Xix	Downslanted palpebral fissures, Lobulated tongue, Narrow palate, Cleft soft palate, High palate, ...	OMIM:620107
Fanconi Anemia, Complementation Group J	Microphthalmia, Intrauterine growth retardation	OMIM:609054
Desmoplastic Small Round Cell Tumor	Anemia, Ileus, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Mediasti...	ORPHA:83469
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas...	ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Fat malabsorption, Hepatocellular carcinoma, Intrahepatic chole...	OMIM:601847
Joubert Syndrome 22	Microphthalmia, Coloboma, Intrauterine growth retardation	OMIM:615665
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Generalized lymphadenopathy, Hepatosplenomegaly, Autoimmune thrombocytope...	OMIM:615559
Blomstrand Lethal Chondrodysplasia	Long philtrum, Protruding tongue, Telecanthus, Natal tooth	ORPHA:50945
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Curry-Jones Syndrome	Lip pit, Blepharophimosis, Lipomyelomeningocele, Intestinal malrotation, Iris coloboma, Unicorona...	OMIM:601707
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Brachycephaly, Thick eyebrow, Long eyelashes	ORPHA:1514
Oculopalatocerebral Syndrome	Cleft palate, Remnants of the hyaloid vascular system, Microphthalmia, Microcephaly	OMIM:257910
3P25.3 Microdeletion Syndrome	Brachycephaly, Downslanted palpebral fissures, Deep philtrum, Epicanthus, Blepharophimosis, Pylor...	ORPHA:435638
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Microphthalmia, Cho...	ORPHA:231736
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Immunodeficiency 27A	Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge...	OMIM:209950
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Bifid uvula, Iris coloboma, Phthisis bulbi, Thick eyebrow, Anophthalmi...	OMIM:300166
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Duodenal stenosis, Frontal bossing	ORPHA:2547
Leishmaniasis	Abnormal oral mucosa morphology, Skin ulcer, Abnormal oral cavity morphology, Pallor	ORPHA:507
17Q12 Microduplication Syndrome	Tracheoesophageal fistula, Synophrys, Microphthalmia, Cleft palate	ORPHA:261272
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Hydrocephalus, Intrauterine growth retardation, Frontal bossing	OMIM:300863
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Occipital encephalocele, Craniosynostosis	OMIM:614416
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo...	OMIM:612840
Teebi-Shaltout Syndrome	Scaphocephaly, Turricephaly, Prominent palatine ridges, High, narrow palate, Wide mouth, Oligodon...	OMIM:272950
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Open mouth, Protruding tongue, Macroglossia	ORPHA:258
Cronkhite-Canada Syndrome	Stomach cancer, Anemia, Malabsorption, Gastrointestinal carcinoma, Intestinal polyposis, Colon ca...	ORPHA:2930
Microphthalmia, Syndromic 3	Coloboma, Anophthalmia, Esophageal atresia, Optic nerve aplasia, Optic nerve hypoplasia, Frontal ...	OMIM:206900
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Blepharophimosis, Broad eyebrow, Frontal bossing, Ptosis, Iris coloboma, Microphthalm...	ORPHA:494344
Myoclonic-Astatic Epilepsy	Long philtrum, Wide mouth, Thick lower lip vermilion, Premature skin wrinkling, Thin upper lip ve...	ORPHA:1942
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short palpebral fissure, High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median to...	OMIM:608670
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly	OMIM:619658
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Crohn's disease, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolyt...	OMIM:616100
Marden-Walker Syndrome	High palate, Long philtrum, Epicanthus, Blepharophimosis, Pyloric stenosis, Ptosis, Narrow mouth,...	OMIM:248700
Cohen Syndrome	Downslanted palpebral fissures, Abnormal eyelid morphology, Aplasia/Hypoplasia of the tongue, Hig...	ORPHA:193
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Distichiasis, High palate, Microcephaly, Pallor	OMIM:600462
Hemochromatosis, Type 2A	Cirrhosis, Azoospermia, Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly	OMIM:602390
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Biliary tract abnormality...	ORPHA:234
Isolated Optic Nerve Hypoplasia/Aplasia	Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp...	ORPHA:137902
Microphthalmia With Limb Anomalies	Cleft upper lip, Abnormal eyebrow morphology, High palate, Long philtrum, Blepharophimosis, Arrhi...	ORPHA:1106
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Gastrointestin...	OMIM:263300
Ménétrier Disease	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Multiple gastric pol...	ORPHA:2494
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Increased fecal harderoporphyrin, Hepatomegaly, Prolonged neon...	OMIM:618892
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol...	OMIM:235700
Acrofrontofacionasal Dysostosis 1	Brachycephaly, S-shaped palpebral fissures, Cleft upper lip, Wide mouth, Long eyebrows, Oligodont...	OMIM:201180
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Hydrocephalus, Midface retrusion, Craniosynostosis	OMIM:612247
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ...	OMIM:619849
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Plagiocephaly, Coloboma, Wide mouth, Macroglossia, Frontal bossing, Everted lower ...	OMIM:616789
Cockayne Syndrome Type 1	Conjunctivitis, Enamel hypoplasia, Anophthalmia, Delayed eruption of primary teeth, Anodontia, Wi...	ORPHA:90321
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Chromosome 17Q12 Duplication Syndrome	Downslanted palpebral fissures, Cleft soft palate, Esophageal atresia, Microphthalmia, Smooth phi...	OMIM:614526
Microphthalmia, Isolated, With Coloboma 9	Long philtrum, Narrow palpebral fissure, Ptosis, Iris coloboma, Microphthalmia, Macular coloboma	OMIM:615145
Basel-Vanagaite-Smirin-Yosef Syndrome	Downslanted palpebral fissures, High palate, Epicanthus, Short philtrum, Everted lower lip vermil...	OMIM:616449
Congenital Muscular Dystrophy With Cerebellar Involvement	Coloboma, Hydrocephalus, Macroglossia, Optic nerve hypoplasia, Microphthalmia, Microcephaly, Occi...	ORPHA:370959
Orofaciodigital Syndrome V	Downslanted palpebral fissures, Lobulated tongue, Bifid tongue, High palate, Hypodontia, Aganglio...	OMIM:174300
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Enamel hypoplasia, High palate, Ankyloglossia, Unilateral microphthalmos, Thin up...	OMIM:618874
Multiple Benign Circumferential Skin Creases On Limbs	Long philtrum, Epicanthus, Microphthalmia, Microcephaly, Cleft palate, Umbilical hernia	ORPHA:2505
Griscelli Syndrome	Leukopenia, Hepatitis, Jaundice, Pyloric stenosis, Abnormality of neutrophils, Lymphadenopathy, B...	ORPHA:381
Spherocytosis, Type 1	Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis	OMIM:182900
Orofaciodigital Syndrome Type 5	Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p...	ORPHA:2919
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive...	OMIM:601859
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	High palate, Plagiocephaly, Epicanthus, Short philtrum, Everted lower lip vermilion, Thin upper l...	OMIM:616579
Cdags Syndrome	Brachycephaly, Sparse eyebrow, Sagittal craniosynostosis, Parietal foramina, Coronal craniosynost...	OMIM:603116
Myasthenic Syndrome, Congenital, 10	Ptosis, Tongue atrophy	OMIM:254300
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly, Wide mouth, Synophrys, Ptosis, Upslanted palpebral fissure	OMIM:616083
Chronic Granulomatous Disease	Liver abscess, Malabsorption, Pyloric stenosis, Abnormality of neutrophils, Tracheoesophageal fis...	ORPHA:379
Warburg Micro Syndrome 4	Brachycephaly, Long philtrum, Ptosis, Secondary microcephaly, Narrow mouth, Microphthalmia	OMIM:615663
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Brachycephaly, Lip pit, Hypodontia, Frontal bossing, Iris coloboma, Abnormal palate morphology, M...	ORPHA:1236
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue, Ptosis	ORPHA:2743
Cerebrooculofacioskeletal Syndrome 1	Long philtrum, Delayed eruption of teeth, Blepharophimosis, Microphthalmia, Microcephaly, Carious...	OMIM:214150
Trisomy 18	Non-midline cleft lip, Narrow palate, Epicanthus, Spina bifida, Blepharophimosis, Anencephaly, Es...	ORPHA:3380
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Immunodeficiency, Common Variable, 2	Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly	OMIM:240500
Joubert Syndrome 37	Ptosis, High palate, Microphthalmia, Frontal bossing	OMIM:619185
Microcephaly-Micromelia Syndrome	Short palpebral fissure, Aqueductal stenosis, Narrow mouth, Microphthalmia, Microcephaly, Cleft p...	OMIM:251230
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Microcephaly	OMIM:251270
Hypomandibular Faciocranial Dysostosis	Brachycephaly, Downslanted palpebral fissures, Aplasia/Hypoplasia of the tongue, Bifid uvula, Mid...	ORPHA:1790
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Abnormally large globe, Cleft upper lip, Plagiocephaly, Aganglionic megacolon, Hydrocephalus, Sho...	OMIM:239300
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Brachycephaly, Skull asymmetry, Long philtrum, Bilateral ptosis, Synophrys, Velopharyngeal insuff...	OMIM:614701
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Pallor	ORPHA:163596
Indolent Systemic Mastocytosis	Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m...	ORPHA:98848
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Coloboma, Hydrocephalus, Progressive microcephaly, Microphthalmia, Microc...	OMIM:615249
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Lobulated tongue, Encephalocele, Bifid tongue, Natal tooth, Midface retrusion, An...	OMIM:616300
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Fat malabsorption, Jaundice, Acholic stools, Steatorrhea, Intrahepatic cholestasis, Gi...	OMIM:607765
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Fat malabsorption, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis wi...	OMIM:211600
8Q21.11 Microdeletion Syndrome	Downslanted palpebral fissures, High palate, Epicanthus, Blepharophimosis, Short philtrum, Ptosis...	ORPHA:284160
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte...	OMIM:616278
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Warburg Micro Syndrome 3	Brachycephaly, Narrow palate, Blepharophimosis, Downturned corners of mouth, Secondary microcepha...	OMIM:614222
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Blepharophimosis, Anal atresia, Anteriorly placed anus, Microphthalmia, Microcephaly, Upslanted p...	ORPHA:1352
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Oculogastrointestinal Muscular Dystrophy	Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Spo...	ORPHA:1876
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Iris coloboma, Optic disc coloboma, Microphthalmia	OMIM:169550
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:618495
Microphthalmia With Linear Skin Defects Syndrome	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Anophthalmia, Abnormality of...	ORPHA:2556
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto...	OMIM:616689
Holoprosencephaly-Craniosynostosis Syndrome	Short palpebral fissure, Brachycephaly, Plagiocephaly, Epicanthus, Holoprosencephaly, Microcephal...	ORPHA:2163
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Pallor	ORPHA:536516
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Long philtrum, Microphthalmia, Thin vermilion border, Aplasia/Hypopl...	ORPHA:85194
Familial Male-Limited Precocious Puberty	Oligospermia, Male infertility	ORPHA:3000
Acrofrontofacionasal Dysostosis	Brachycephaly, Downslanted palpebral fissures, Non-midline cleft lip, Aplasia/Hypoplasia of the e...	ORPHA:1784
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Steatorrhea, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate prod...	OMIM:612714
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo...	ORPHA:75564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Charge Syndrome	Cleft upper lip, Anophthalmia, Aqueductal stenosis, Epicanthus, Delayed eruption of teeth, Abnorm...	ORPHA:138
Lymphoproliferative Syndrome 2	Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas...	OMIM:615122
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly	OMIM:185000
Arthrogryposis And Ectodermal Dysplasia	Brachycephaly, Cleft upper lip, Entropion, Blepharophimosis, Oligodontia, Narrow palpebral fissur...	OMIM:601701
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Long philtrum, Bifid uvula, Frontal bossing, Thin upper lip vermilion, Microphthalmia, Microcepha...	OMIM:241410
Osteopetrosis, Autosomal Dominant 3	Hyperparathyroidism, Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto...	OMIM:150550
Pelvis-Shoulder Dysplasia	Short palpebral fissure, Spina bifida, Hydrocephalus, Hydranencephaly, Bilateral microphthalmos, ...	ORPHA:2839
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Prostate cancer, Hepatocellula...	ORPHA:158057
Spherocytosis, Type 4	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:612653
Immunodeficiency 54	Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg...	OMIM:609981
Fibular Hemimelia	Spina bifida, Craniosynostosis, Anophthalmia	ORPHA:93323
Microphthalmia, Syndromic 6	Brachycephaly, High palate, Coloboma, Anophthalmia, Plagiocephaly, Bifid uvula, Midface retrusion...	OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Coloboma, Hydrocephalus, Microphthalmia	OMIM:613153
Msh3-Related Attenuated Familial Adenomatous Polyposis	Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Juvenile g...	ORPHA:480536
Developmental And Epileptic Encephalopathy 84	Short palpebral fissure, Plagiocephaly, Epicanthus, Blepharophimosis, Synophrys, Thick lower lip ...	OMIM:618792
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor	ORPHA:49827
Heart And Brain Malformation Syndrome	Thick lower lip vermilion, Prominent occiput, Everted lower lip vermilion, Microphthalmia, Cleft ...	OMIM:616920
Adams-Oliver Syndrome 2	Hydrocephalus, Narrow palpebral fissure, Microphthalmia, Microcephaly	OMIM:614219
Cold Agglutinin Disease	Hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:56425
Lelis Syndrome	Sparse lateral eyebrow, Furrowed tongue, Absent lower eyelashes, Hypodontia, Midface retrusion, C...	ORPHA:140936
Burning Mouth Syndrome	Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Xerostomia, Smooth to...	ORPHA:353253
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Narrow mouth, Microphthalmia, Microcephaly, Optic nerve hypoplasia	OMIM:614833
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Cousin Syndrome	Short palpebral fissure, Blepharophimosis, Hydrocephalus, Narrow palpebral fissure, Frontal bossi...	OMIM:260660
Gracile Bone Dysplasia	Ankyloglossia, Hydrocephalus, Microphthalmia, Aniridia	OMIM:602361
Gamma-Heavy Chain Disease	Neoplasm of the tongue, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphad...	ORPHA:100026
1Q21.1 Microdeletion Syndrome	High palate, Long philtrum, Epicanthus, Ankyloglossia, Hydrocephalus, Frontal bossing, Iris colob...	ORPHA:250989
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Microcephaly 20, Primary, Autosomal Recessive	Arrhinencephaly, Optic nerve hypoplasia, Microphthalmia, Microcephaly, Intrauterine growth retard...	OMIM:617914
Subaortic Stenosis-Short Stature Syndrome	Microdontia, Microphthalmia, Epicanthus	ORPHA:3191
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ...	ORPHA:54251
Acrodermatitis Enteropathica	Conjunctivitis, Abnormal eyebrow morphology, Abnormal eyelid morphology, Malabsorption, Skin ulce...	ORPHA:37
Beta-Thalassemia	Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia,...	ORPHA:848
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Momo Syndrome	Brachycephaly, Downslanted palpebral fissures, Dental malocclusion, High palate, Long philtrum, D...	OMIM:157980
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Blepharophimosis, Biparietal narrowing, Ptosis, Chorioretinal coloboma, Glossoptosis	ORPHA:2031
Sclerosing Cholangitis, Neonatal	Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ...	OMIM:617394
Microphthalmia, Syndromic 9	Blepharophimosis, Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia	OMIM:601186
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen...	OMIM:615387
Joubert Syndrome 18	Lobulated tongue, Arrhinencephaly, Cleft palate, Occipital encephalocele, Intrauterine growth ret...	OMIM:614815
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Steatorrhea, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly	OMIM:235555
Curry-Jones Syndrome	Intestinal malrotation, Iris coloboma, Microphthalmia, Optic disc coloboma, Craniosynostosis	ORPHA:1553
Irida Syndrome	Abnormal intestine morphology, Pallor	ORPHA:209981
Crouzon Syndrome	Conjunctivitis, Brachycephaly, Sagittal craniosynostosis, High palate, Coronal craniosynostosis, ...	OMIM:123500
Glycogen Storage Disease Ixb	Increased hepatic glycogen content, Splenomegaly, Hepatomegaly	OMIM:261750
2Q31.1 Microdeletion Syndrome	Short palpebral fissure, Downslanted palpebral fissures, Coloboma, Long philtrum, Epicanthus, Dee...	ORPHA:251014
Muenke Syndrome	Brachycephaly, Plagiocephaly, Coronal craniosynostosis, Hydrocephalus, Ptosis, High, narrow palate	ORPHA:53271
Elliptocytosis 1	Elliptocytosis, Hemolytic anemia, Jaundice, Splenomegaly	OMIM:611804
Blepharophimosis, Ptosis, And Epicanthus Inversus	High palate, Blepharophimosis, Ptosis, Epicanthus inversus, Microphthalmia, Highly arched eyebrow...	OMIM:110100
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Monosomy 9P	Brachycephaly, Downslanted palpebral fissures, High palate, Long philtrum, Epicanthus, Blepharoph...	ORPHA:261112
Pseudotrisomy 13 Syndrome	Cleft upper lip, Encephalocele, Hydrocephalus, Anal atresia, Median cleft lip and palate, Holopro...	OMIM:264480
X-Linked Dominant Chondrodysplasia Punctata	Downslanted palpebral fissures, Sparse eyebrow, High palate, Frontal bossing, Scaling skin, Micro...	ORPHA:35173
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:603909
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Hallermann-Streiff Syndrome	Brachycephaly, Sparse eyebrow, Glossoptosis, Natal tooth, Supernumerary tooth, Frontal bossing, N...	ORPHA:2108
Fumarase Deficiency	Frontal bossing, High palate, Microcephaly, Pallor	OMIM:606812
Bilateral Perisylvian Polymicrogyria	Protruding tongue, Intrauterine growth retardation, Microcephaly	ORPHA:98889
Hartnup Disorder	Glossitis	OMIM:234500
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis	OMIM:179010
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas...	OMIM:607594
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Downslanted palpebral fissures, Submucous cleft hard palate, Pierre-Ro...	OMIM:192445
Chromosome 13Q14 Deletion Syndrome	High palate, Deep philtrum, Epicanthus, Dolichocephaly, Frontal bossing, Everted lower lip vermil...	OMIM:613884
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Long philtrum, Epicanthus, Thin upper lip vermilion, Anteriorly placed anus, Microphthalmia, Clef...	OMIM:618494
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Impaired neutrophil bactericidal activity, Jaundice, Cholecystitis,...	OMIM:613470
Overhydrated Hereditary Stomatocytosis	Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea...	ORPHA:3203
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growth retardation, Microcephaly	ORPHA:290
Immunodeficiency 97 With Autoinflammation	Reduced natural killer cell count, Enterocolitis, Monocytopenia, Decreased proportion of CD4+CD25...	OMIM:619802
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:612526
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Biparietal narrowing, Prominent occiput, Frontal bossing, Iris coloboma, Microphth...	ORPHA:2612
Hemochromatosis, Type 1	Cirrhosis, Hepatocellular carcinoma, Azoospermia, Testicular atrophy, Hepatomegaly, Hypogonadotro...	OMIM:235200
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Hepatitis, Jaundice, Acholic stools, Steatorrhea, Hepatic bridging fibrosis, Intrahepa...	OMIM:613812
Spherocytosis, Type 2	Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Moebius Syndrome	High palate, Epicanthus, Bifid uvula, Microphthalmia, Congenital fibrosis of extraocular muscles,...	OMIM:157900
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Retinal coloboma	ORPHA:363741
Galloway-Mowat Syndrome 3	Downslanted palpebral fissures, High palate, Epicanthus, Midface retrusion, Frontal bossing, Narr...	OMIM:617729
Chromosome 8Q21.11 Deletion Syndrome	Short palpebral fissure, Downslanted palpebral fissures, High palate, Epicanthus, Short philtrum,...	OMIM:614230
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Sparse eyebrow, Hypoplasia of the frontal bone, Cranium bifidum occultum, Epicanthus, Ptosis, Eye...	ORPHA:306542
Trisomy 8Q	Non-midline cleft lip, Myelomeningocele, Bifid tongue, High palate, Abnormal oral frenulum morpho...	ORPHA:1752
Orofaciodigital Syndrome I	Bifid tongue, Epicanthus, Median cleft lip, Alveolar ridge overgrowth, Cleft palate, Telecanthus,...	OMIM:311200
Monosomy 9Q22.3	Downslanted palpebral fissures, Odontogenic keratocysts of the jaw, Long philtrum, Delayed erupti...	ORPHA:77301
Incontinentia Pigmenti	Conical tooth, Delayed eruption of teeth, Hypodontia, Oligodontia, Pallor, Hypoplasia of the fove...	OMIM:308300
Adams-Oliver Syndrome 6	Portal hypertension, Hepatic fibrosis, Esophageal varix, Splenomegaly	OMIM:616589
Griscelli Syndrome Type 2	Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly	ORPHA:79477
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis	OMIM:614876
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Jaundice, Decrea...	ORPHA:276
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Lobulated tongue, Short philtrum, Thin upper lip vermilion, Downturned corners of mouth, Upslante...	OMIM:613443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Encephalocele, Hydrocephalus, Macroglossia, Buphthalmos, Microphthalmia, Microce...	OMIM:613150
Osteogenesis Imperfecta, Type Xx	Brachycephaly, Sparse lateral eyebrow, High palate, Narrow palate, Plagiocephaly, Midface retrusi...	OMIM:618644
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Secondary microcephaly, Microphthalmia	OMIM:613730
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea...	OMIM:266200
Lysosomal Acid Lipase Deficiency	Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic...	OMIM:278000
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Anal atresia, Intestinal malrotation, Holoprosencephaly, Narrow mou...	ORPHA:2166
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Ulcerative colitis, Pancytopenia, Colitis, Decreased proportion of memory B cell...	OMIM:618394
Neuroocular Syndrome	Lagophthalmos, Synophrys, Midface retrusion, Torus palatinus, Lens coloboma, Iris coloboma, Disti...	OMIM:619539
Branchiooculofacial Syndrome	Upslanted palpebral fissure, Cleft upper lip, Anophthalmia, Branchial anomaly, Lower lip pit, Pyl...	OMIM:113620
Nance-Horan Syndrome	Supernumerary tooth, Microphthalmia, Abnormality of the dentition	ORPHA:627
Focal Dermal Hypoplasia	Enamel hypoplasia, Dental malocclusion, Cleft upper lip, Myelomeningocele, Anophthalmia, Delayed ...	OMIM:305600
Evans Syndrome	Petechiae, Pallor	ORPHA:1959
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Intrauterine growth retardation, Microcephaly	OMIM:610756
Gastrointestinal Stromal Tumor	Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract...	ORPHA:44890
Hereditary Folate Malabsorption	Glossitis, Cheilitis, Pallor	ORPHA:90045
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Secondary microcephaly, Pallor	OMIM:613839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hypoplasia of the retina, Coloboma, Hydrocephalus, Midface retrusion, Pallor, Everted lower lip v...	OMIM:253280
Bronchogenic Cyst	Abnormal esophagus morphology, Abnormal stomach morphology, Abnormality of the peritoneum, Dysphagia	ORPHA:2357
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Keratoconjunctivitis sicca, Microphthalmia, Microcephaly, Sparse eyelashes, Hypoplasi...	OMIM:234050
Distal Monosomy 3P	Brachycephaly, High palate, Long philtrum, Epicanthus, Blepharophimosis, Ptosis, Downturned corne...	ORPHA:1620
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Ohdo Syndrome, X-Linked	Downslanted palpebral fissures, Sparse eyebrow, High palate, Long philtrum, Epicanthus, Blepharop...	OMIM:300895
Auriculocondylar Syndrome 3	Bifid uvula, Ectropion, Glossoptosis	OMIM:615706
Ectodermal Dysplasia-Blindness Syndrome	Keratoconjunctivitis sicca, Skin ulcer, Microphthalmia, Abnormality of the dentition	ORPHA:1806
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Cat Eye Syndrome	Downslanted palpebral fissures, Rectal fistula, Rectal atresia, Epicanthus, Volvulus, Anal atresi...	OMIM:115470
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ptosis, Pallor	ORPHA:13
Lig4 Syndrome	Brachycephaly, Epicanthus, Malabsorption, Biparietal narrowing, Microcephaly, Erythema, Upslanted...	ORPHA:99812
Dubowitz Syndrome	Short palpebral fissure, Sparse lateral eyebrow, High palate, Epicanthus, Blepharophimosis, Hypop...	OMIM:223370
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia, Cryptorchidism	ORPHA:2617
Craniosynostosis 2	Brachycephaly, Cleft soft palate, Turricephaly, Supernumerary tooth, Frontal bossing, Unicoronal ...	OMIM:604757
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Pyloric stenosis, Increased mean platelet volume, Intestina...	OMIM:300048
Osteopetrosis, Autosomal Recessive 8	Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly	OMIM:615085
Microphthalmia, Lenz Type	Abnormality of the dentition, Delayed eruption of teeth, Ankyloblepharon, Abnormality of dental m...	ORPHA:568
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Brachycephaly, Hooded eyelid, Plagiocephaly, Primary microcephaly, Synophrys, Microdontia, Smooth...	OMIM:610759
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Frontal bossing	ORPHA:2788
Joubert Syndrome 2	High palate, Encephalocele, Hydrocephalus, Dolichocephaly, Frontal bossing, Microphthalmia, Chori...	OMIM:608091
Martsolf Syndrome 1	Brachycephaly, Downslanted palpebral fissures, High palate, Long philtrum, Epicanthus, Short phil...	OMIM:212720
Osteopathia Striata-Cranial Sclerosis Syndrome	Brachycephaly, Delayed eruption of teeth, Epicanthus, Bifid uvula, Submucous cleft hard palate, F...	ORPHA:2780
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Ascites, Splenomegaly, Hepatomegaly	ORPHA:2414
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Bifid tongue, Intestinal malrotation, Flat occiput, Upslanted palpebral fissure, Bilateral cleft ...	ORPHA:2001
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Thrombocytopenia	OMIM:188025
Dravet Syndrome	Pallor	ORPHA:33069
Mosaic Trisomy 9	High palate, Spina bifida, Biparietal narrowing, Prominent occiput, Intestinal malrotation, Micro...	ORPHA:99776
Ritscher-Schinzel Syndrome 3	Downslanted palpebral fissures, Thin upper lip vermilion, Microphthalmia, Chorioretinal coloboma,...	OMIM:619135
Branchioskeletogenital Syndrome	Brachycephaly, Synophrys, Bifid uvula, Periorbital wrinkles, Telecanthus, Microcephaly, Premature...	ORPHA:1299
Deafness-Lymphedema-Leukemia Syndrome	Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli...	ORPHA:3226
Carey-Fineman-Ziter Syndrome	Downslanted palpebral fissures, Aplasia/Hypoplasia of the tongue, High palate, Pierre-Robin seque...	ORPHA:1358
Monosomy 13Q14	Epicanthus, Ptosis, Iris coloboma, Holoprosencephaly, Microphthalmia, Microcephaly, Trigonocephal...	ORPHA:1587
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis	OMIM:619817
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly	ORPHA:59303
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund...	OMIM:194380
3Q29 Microdeletion Syndrome	Downslanted palpebral fissures, High palate, Short philtrum, Everted lower lip vermilion, Microph...	ORPHA:65286
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Microcephaly, Pallor	OMIM:246450
Auriculocondylar Syndrome	Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Bifid uvula, ...	ORPHA:137888
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Cleft palate, Long philtrum, Glossoptosis	ORPHA:166100
Galloway-Mowat Syndrome 1	High palate, Wide mouth, Epicanthus, Hypoplasia of the iris, Midface retrusion, Ptosis, Secondary...	OMIM:251300
Primary Myelofibrosis	Ecchymosis, Purpura, Petechiae, Pallor	ORPHA:824
9Q21.13 Microdeletion Syndrome	Long palpebral fissure, Ptosis, Downturned corners of mouth, Abnormal tongue morphology, Craniosy...	ORPHA:531151
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Enamel hypoplasia, Unilateral narrow palpebral fissure, Micro...	OMIM:618727
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Microcephaly	ORPHA:77299
Holoprosencephaly 2	Proboscis, Bifid uvula, Submucous cleft hard palate, Midface retrusion, Median cleft lip and pala...	OMIM:157170
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Glossitis, Abnormal eyelid morphology, Macroglossia	ORPHA:2221
Diamond-Blackfan Anemia 1	Downslanted palpebral fissures, Cleft upper lip, Parietal foramina, High palate, Epicanthus, Pall...	OMIM:105650
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm...	OMIM:613179
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma	OMIM:212550
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Hydrocephalus, Anal atresia, Iris coloboma, Narrow mouth, Microphthalmia, ...	ORPHA:3301
Basel-Vanagaite-Smirin-Yosef Syndrome	Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Short philtrum, Everted lower lip ver...	ORPHA:464738
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Downslanted palpebral fissures, High palate, Coloboma, Furrowed tongue, Epicanthus, Blepharophimo...	OMIM:616975
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Oculodentodigital Dysplasia	Short palpebral fissure, Enamel hypoplasia, Cleft upper lip, High palate, Selective tooth agenesi...	OMIM:164200
Kapur-Toriello Syndrome	Retinal coloboma, Intestinal malrotation, Iris coloboma, Microphthalmia, Orofacial cleft	ORPHA:2328
Basal Cell Nevus Syndrome 1	Hamartomatous stomach polyps, Cleft upper lip, Odontogenic keratocysts of the jaw, Spina bifida, ...	OMIM:109400
Myelofibrosis	Purpura, Pallor	OMIM:254450
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy...	OMIM:301078
Xeroderma Pigmentosum, Complementation Group D	Conjunctivitis, Entropion, Keratoconjunctivitis sicca, Ectropion, Microphthalmia, Microcephaly	OMIM:278730
Stromme Syndrome	Jejunal atresia, Wide mouth, Hydrocephalus, Optic nerve hypoplasia, Intestinal malrotation, Iris ...	OMIM:243605
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Left unicoronal synostosis, Anterior plagiocephaly, Plagiocephaly, Aganglionic megacolon, Anal at...	OMIM:614749
Au-Kline Syndrome	Downslanted palpebral fissures, Lagophthalmos, Dental malocclusion, Sparse lateral eyebrow, Bifid...	OMIM:616580
Dominant Beta-Thalassemia	Skin ulcer, Frontal bossing, Pallor, Upslanted palpebral fissure, Abnormality of the dentition	ORPHA:231226
Beta-Thalassemia Intermedia	Splenomegaly, Cirrhosis, Abnormality of the liver, Hypogonadism, Increased HbA2 hemoglobin, Jaund...	ORPHA:231222
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph...	OMIM:613011
Cerebrooculofacioskeletal Syndrome 4	Blepharophimosis, Short philtrum, Bilateral microphthalmos, Microcephaly, Intrauterine growth ret...	OMIM:610758
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Cleft upper lip, Blepharophimosis, Absent eyelashes, Ankyloblepharon, ...	OMIM:263650
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Autosomal Dominant Keratitis	Coloboma, Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microph...	ORPHA:2334
Gorlin-Chaudhry-Moss Syndrome	Brachycephaly, Abnormal eyelid morphology, Coronal craniosynostosis, Oligodontia, Upper eyelid co...	ORPHA:2095
Refsum Disease	Ptosis, Dry skin, Microphthalmia	ORPHA:773
Bosma Arhinia Microphthalmia Syndrome	Dental malocclusion, High palate, Coloboma, Synophrys, Midface retrusion, Microphthalmia, Cleft l...	OMIM:603457
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:85414
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy	ORPHA:496689
Anemia, Congenital Dyserythropoietic, Type Iv	Splenomegaly, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells...	OMIM:613673
Muir-Torre Syndrome	Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Colon cancer, Salivary gland ne...	ORPHA:587
Adenocarcinoma Of The Anal Canal	Neoplasm of the rectum, Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding, Anal canal a...	ORPHA:424016
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E...	OMIM:603554
Rothmund-Thomson Syndrome, Type 2	Sparse eyebrow, High palate, Epicanthus, Absent eyelashes, Delayed eruption of teeth, Microdontia...	OMIM:268400
Ring Chromosome Y Syndrome	Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S...	ORPHA:261529
Kapur-Toriello Syndrome	Cleft upper lip, Intestinal malrotation, Iris coloboma, Microphthalmia, Cleft palate, Intrauterin...	OMIM:244300
Erythrocytosis, Familial, 1	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly	OMIM:133100
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Sparse eyelashes...	OMIM:616367
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Arthrogryposis, Distal, Type 5D	Lagophthalmos, Tongue atrophy, Ptosis, Narrow mouth, Furrowed tongue, Cleft palate, Open mouth, H...	OMIM:615065
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal fallopian tube morphology, High palate, Pulmonary lymphangiectasia, Hepatosplenomegaly, ...	ORPHA:1655
Charge Syndrome	Downslanted palpebral fissures, Cleft upper lip, Anophthalmia, Coloboma, Esophageal atresia, Arrh...	OMIM:214800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	High palate, Coloboma, Branchial anomaly, Plagiocephaly, Oligodontia, Bifid uvula, Shallow orbits...	ORPHA:453499
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L...	ORPHA:220460
Micro Syndrome	High palate, Short philtrum, Microphthalmia, Microcephaly, Intrauterine growth retardation, Retin...	ORPHA:2510
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Umbilical hernia, Lens coloboma	OMIM:618914
Oculo-Palato-Cerebral Syndrome	Remnants of the hyaloid vascular system, Microphthalmia, Microcephaly, Cleft palate, High, narrow...	ORPHA:2714
American Trypanosomiasis	Achalasia, Aganglionic megacolon, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Glycogen Storage Disease Ixc	Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Splenomegaly	OMIM:613027
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Anemia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyp...	OMIM:174900
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Microphthalmia, Chorioretinal colob...	OMIM:120200
Rodrigues Blindness	Microphthalmia, Tooth malposition	OMIM:268320
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Orofaciodigital Syndrome Iv	Lobulated tongue, High palate, Tongue nodules, Epicanthus, Accessory oral frenulum, Cleft palate,...	OMIM:258860
Congenital Disorder Of Glycosylation, Type Iig	Downslanted palpebral fissures, Pierre-Robin sequence, High palate, Glossoptosis, Long philtrum, ...	OMIM:611209
Autosomal Recessive Robinow Syndrome	Bifid tongue, Ectopic anus, Epicanthus, Midface retrusion, Gingival overgrowth, Orofacial cleft, ...	ORPHA:1507
Auriculocondylar Syndrome 1	Dental malocclusion, Mandibular condyle hypoplasia, Dental crowding, Narrow mouth, Mandibular con...	OMIM:602483
Anterior Segment Dysgenesis 2	Coloboma, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia, Aniridia	OMIM:610256
Fanconi Anemia, Complementation Group C	Epicanthus, Microphthalmia, Microcephaly, Anemic pallor, Intrauterine growth retardation	OMIM:227645
Agnathia-Otocephaly Complex	Downslanted palpebral fissures, Holoprosencephaly, Microglossia, Narrow mouth, Cleft palate, Aglo...	OMIM:202650
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Glossitis, Pallor	ORPHA:35858
Reynolds Syndrome	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Jaundice, Xerostomia, Hep...	ORPHA:779
Treacher Collins Syndrome 1	Downslanted palpebral fissures, Lacrimal duct stenosis, Cleft soft palate, Wide mouth, Abnormal p...	OMIM:154500
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Downslanted palpebral fissures, Plagiocephaly, Turricephaly, Epicanthus, Aganglionic megacolon, H...	OMIM:613603
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus, Calvarial skull defect, Microphthalmia, Esophageal varix	ORPHA:974
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Downslanted palpebral fissures, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Ep...	ORPHA:2759
Focal Dermal Hypoplasia	Abnormality of the dentition, Spina bifida, Hypoplasia of the iris, Abnormality of dental morphol...	ORPHA:2092
Anterior Segment Dysgenesis 5	Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia	OMIM:604229
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	High palate, Microphthalmia	OMIM:619053
Histiocytoid Cardiomyopathy	Hydrocephalus, Pallor, Microphthalmia, Congenital aphakia, Cleft palate	ORPHA:137675
Beta-Thalassemia Major	Skin ulcer, Frontal bossing, Pallor, Upslanted palpebral fissure, Abnormality of the dentition	ORPHA:231214
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Brachycephaly, Parietal foramina, Plagiocephaly, Ectopic anus, Wide mouth, Absent eyelashes, Thic...	ORPHA:85199
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly	OMIM:619183
22Q11.2 Deletion Syndrome	Meningocele, Epicanthus, Cleft palate, Telecanthus, Abnormal dental enamel morphology, Spina bifi...	ORPHA:567
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Renal-Hepatic-Pancreatic Dysplasia 1	Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly...	OMIM:208540
Mosaic Trisomy 1	Short upper lip, Downslanted palpebral fissures, Wide mouth, Thick lower lip vermilion, Congenita...	ORPHA:1692
Yunis-Varon Syndrome	Primary microcephaly, Redundant neck skin, Sparse eyelashes, Glossoptosis, Short upper lip, Prema...	ORPHA:3472
Anterior Segment Dysgenesis 7	Buphthalmos, Iris coloboma, Microphthalmia	OMIM:269400
Skin Creases, Congenital Symmetric Circumferential, 2	Short palpebral fissure, Downslanted palpebral fissures, Epicanthus, Blepharophimosis, Synophrys,...	OMIM:616734
Autoimmune Hemolytic Anemia	Pallor	ORPHA:98375
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Frontal bossing, Optic nerve hypoplasia, Remnants of the hyaloid va...	OMIM:614643
Oculoauricular Syndrome	Macular hypoplasia, Spina bifida occulta, Iris coloboma, Microphthalmia, Chorioretinal coloboma, ...	OMIM:612109
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema, Microphth...	OMIM:302350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cleft upper lip, Coloboma, Hydrocephalus, Meningoencephalocele, Anal atresia, Optic nerve hypopla...	OMIM:236670
Letterer-Siwe Disease	Stomatitis, Pallor	OMIM:246400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypoplasia, To...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypoplasia, To...	ORPHA:352665
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Scleroderma	Hypereosinophilia, Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intes...	ORPHA:801
Cleidocranial Dysplasia	Brachycephaly, Delayed eruption of teeth, Midface retrusion, Supernumerary tooth, Frontal bossing...	ORPHA:1452
Orofaciodigital Syndrome Xv	Lobulated tongue, Midline notch of upper alveolar ridge	OMIM:617127
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Pallor	ORPHA:98870
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Atrophic gastritis, B lymphocytopenia, Villous atrophy, Generalized lymphade...	OMIM:614700
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Hydrocephalus, Limbal dermoid, Eyelid coloboma, Microphthalmia	OMIM:613001
Lymphedema-Distichiasis Syndrome	Conjunctivitis, Cleft upper lip, Ptosis, Ectropion, Microphthalmia, Distichiasis, Cleft palate	OMIM:153400
Trichothiodystrophy 1, Photosensitive	Malabsorption, Keratoconjunctivitis sicca, Microphthalmia, Intestinal obstruction, Microcephaly, ...	OMIM:601675
Steinfeld Syndrome	Bifid uvula, Median cleft lip and palate, Iris coloboma, Holoprosencephaly, Microphthalmia, Retin...	OMIM:184705
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Sickle Cell Disease	Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Increased red cell sickling tendenc...	OMIM:603903
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Lipoid Proteinosis	High palate, Tongue nodules, Thick lower lip vermilion, Abnormal oral mucosa morphology, Microglo...	ORPHA:530
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Aglossia, Optic disc coloboma, Pursed lips	OMIM:241310
Mohr Syndrome	Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Hydrocephalus, Median cleft lip, Acc...	OMIM:252100
Fanconi Anemia	Epicanthus, Aplasia/Hypoplasia of the iris, Cleft palate, Aplasia/Hypoplasia of the uvula, Short ...	ORPHA:84
Meckel Syndrome, Type 1	Lobulated tongue, Cleft upper lip, Wide mouth, Natal tooth, Anencephaly, Hydrocephalus, Anal atre...	OMIM:249000
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Cleft palate, Midface retrusion, Glossoptosis, Frontal bossing	ORPHA:440354
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa...	OMIM:233710
Cerebrocostomandibular Syndrome	Meningocele, Myelomeningocele, Glossoptosis, Spina bifida, Hydranencephaly, Microcephaly, Short h...	ORPHA:1393
Mend Syndrome	High palate, Hydrocephalus, Midface retrusion, Asymmetry of the mouth, Microphthalmia, Upslanted ...	ORPHA:401973
Warburg Micro Syndrome 2	Brachycephaly, Secondary microcephaly, Microphthalmia, Microcephaly	OMIM:614225
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Tracheoesophageal fistula, Iris coloboma, Eyelid coloboma, Microphthalmia, Chorior...	ORPHA:268249
Autosomal Dominant Robinow Syndrome	Bifid tongue, Epicanthus, Midface retrusion, Gingival overgrowth, Supernumerary tooth, Frontal bo...	ORPHA:3107
Idiopathic Pulmonary Hemosiderosis	Pallor	ORPHA:99931
Robinow Syndrome, Autosomal Dominant 3	Dental malocclusion, Bifid tongue, Long philtrum, Epicanthus, Long eyelashes, Midface retrusion, ...	OMIM:616894
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Myopathy, Mitochondrial, And Ataxia	High palate, Pallor	OMIM:617675
Mosaic Variegated Aneuploidy Syndrome	Downslanted palpebral fissures, Stomach cancer, Epicanthus, Intestinal polyposis, Frontal bossing...	ORPHA:1052
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Bifid tongue, Turricephaly, Cleft palate, Intrauterine growth r...	ORPHA:2167
Holoprosencephaly 1	Proboscis, Midface retrusion, Median cleft lip and palate, Alobar holoprosencephaly, Microphthalm...	OMIM:236100
Hardikar Syndrome	Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac disease, Hepatomegaly, Hematem...	OMIM:301068
Caroli Disease	Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Eso...	ORPHA:53035
Ramos-Arroyo Syndrome	Dacryocystitis, Long philtrum, Primary microcephaly, Aganglionic megacolon, Narrow palpebral fiss...	ORPHA:1051
Aicardi Syndrome	Cleft upper lip, Sparse lateral eyebrow, Plagiocephaly, Malabsorption, Short philtrum, Intestinal...	ORPHA:50
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po...	OMIM:224120
Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Craniofacial Microsomia	Transverse facial cleft, Cleft upper lip, Branchial anomaly, Anophthalmia, Wide mouth, Blepharoph...	OMIM:164210
Fanconi Anemia, Complementation Group D2	Esophageal atresia, Blepharophimosis, Hydrocephalus, Tracheoesophageal fistula, Microphthalmia, M...	OMIM:227646
Autoimmune Hepatitis	Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Hepatocellular...	ORPHA:2137
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Microphthalmia, Syndromic 1	Cleft upper lip, Tooth malposition, High palate, Anophthalmia, Agenesis of maxillary lateral inci...	OMIM:309800
Systemic Sclerosis	Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab...	ORPHA:90291
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Hypodontia, Submucous cleft hard palate, Microcephaly, High, narrow palate, Glossoptosis	ORPHA:3201
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Esophageal varix, Hemat...	OMIM:263200
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Adams-Oliver Syndrome 5	Splenomegaly, Hypersplenism, Portal vein thrombosis, Esophageal varix, Right ventricular hypertrophy	OMIM:616028
Fryns Syndrome	Non-midline cleft lip, High palate, Long philtrum, Ectopic anus, Wide mouth, Aganglionic megacolo...	ORPHA:2059
Carey-Fineman-Ziter Syndrome 1	Downslanted palpebral fissures, Lagophthalmos, Pierre-Robin sequence, High palate, Plagiocephaly,...	OMIM:254940
Agammaglobulinemia, X-Linked	Anemia, T lymphocytopenia, Prostatitis, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral ...	OMIM:300755
Dehydrated Hereditary Stomatocytosis	Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ...	ORPHA:3202
Duane-Radial Ray Syndrome	Palpebral fissure narrowing on adduction, Epicanthus, Aganglionic megacolon, Optic disc hypoplasi...	OMIM:607323
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa...	OMIM:233690
Hereditary Acrokeratotic Poikiloderma	Gingivitis, Abnormal pigmentation of the oral mucosa, Keratoconjunctivitis, Turricephaly, Prematu...	ORPHA:2907
Choreoacanthocytosis	Blepharospasm, Protruding tongue	ORPHA:2388
Congenital Fibrinogen Deficiency	Volvulus, Gingival bleeding, Microphthalmia	ORPHA:335
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachycephaly, Epicanthus, Synophrys, Microdontia, Bifid uvula, Prominent occiput, Smooth philtru...	OMIM:612474
Renpenning Syndrome 1	Brachycephaly, Sparse lateral eyebrow, Coloboma, High palate, Epicanthus, Short philtrum, Anal at...	OMIM:309500
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Progressive microcephaly, Tongue atrophy	OMIM:614678
Orofaciodigital Syndrome Type 1	Downslanted palpebral fissures, Lobulated tongue, Lip pit, High palate, Epicanthus, Tongue nodule...	ORPHA:2750
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Peroxisome Biogenesis Disorder 12A (Zellweger)	Scaphocephaly, Epicanthus, Hydrocephalus, Microcephaly, Cranial asymmetry	OMIM:614886
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Aniridia, Pallor	ORPHA:29072
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis...	OMIM:300908
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Tay-Sachs Disease	Pallor	OMIM:272800
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Thin calvarium, Narrow philtrum, Midface retrusion, Frontal bossing, M...	OMIM:601812
Robinow Syndrome, Autosomal Dominant 1	Bifid tongue, Epicanthus, Short lingual frenulum, Delayed eruption of teeth, Midface retrusion, G...	OMIM:180700
Classic Galactosemia	Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf...	ORPHA:79239
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Congenital pyloric atresia, Esophageal atresia	OMIM:226730
Fanconi Anemia, Complementation Group E	Anemic pallor, Microphthalmia, Microcephaly	OMIM:600901
Orofaciodigital Syndrome Type 6	Lobulated tongue, High palate, Epicanthus, Tongue nodules, Biparietal narrowing, Midline notch of...	ORPHA:2754
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Tongue atrophy, Buphthalmos, Ptosis, Penetrating foot ulcers	ORPHA:99956
Waldenström Macroglobulinemia	Malabsorption, Purpura, Gingival bleeding, Pallor	ORPHA:33226
Otopalatodigital Syndrome Type 2	Downslanted palpebral fissures, Myelomeningocele, Encephalocele, Pierre-Robin sequence, Oligodont...	ORPHA:90652
Chondrodysplasia Punctata 2, X-Linked Dominant	Downslanted palpebral fissures, Sparse eyebrow, Frontal bossing, Microphthalmia, Sparse eyelashes	OMIM:302960
Incontinentia Pigmenti	Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Skin ulcer, Spina bifida...	ORPHA:464
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Immotile sperm	OMIM:613807
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Villous atrophy, Jaundice, Hepatic steatosis, H...	ORPHA:567983
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Anemic pallor, Rectal po...	ORPHA:329971
Orofaciodigital Syndrome Vi	Lobulated tongue, Cleft upper lip, High palate, Epicanthus, Tongue nodules, Arrhinencephaly, Inco...	OMIM:277170
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Scaphocephaly, Blepharophimosis, Microdontia, Frontal bossing, Microphthalmia, Smooth philtrum, M...	OMIM:620005
Meckel Syndrome 14	Occipital encephalocele, Holoprosencephaly, Decreased calvarial ossification, Microphthalmia	OMIM:619879
Fanconi Anemia, Complementation Group L	Esophageal atresia, Hydrocephalus, Anal atresia, Tracheoesophageal fistula, Microphthalmia, Upsla...	OMIM:614083
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cleft palate, Glossoptosis, Microcephaly	OMIM:618356
Sepsis In Premature Infants	Enterocolitis, Purpura, Petechiae, Pallor	ORPHA:90051
Mandibuloacral Dysplasia	Abnormally large globe, High palate, Abnormal tongue morphology, Dental crowding, Hypoplasia of t...	ORPHA:2457
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Brachycephaly, Natal tooth, Anal atresia, Frontal bossing, Esophageal diverticulum, Microphthalmi...	OMIM:617925
Oculocerebrorenal Syndrome Of Lowe	Gingivitis, Delayed eruption of teeth, Skin ulcer, Taurodontia, Everted lower lip vermilion, Buph...	ORPHA:534
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h...	ORPHA:86843
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia	OMIM:618398
Fanconi Anemia, Complementation Group A	Anemic pallor, Microphthalmia, Microcephaly	OMIM:227650
Hereditary Elliptocytosis	Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo...	ORPHA:288
Myhre Syndrome	Blepharophimosis, Narrow palpebral fissure, Short philtrum, Midface retrusion, Thin upper lip ver...	OMIM:139210
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Metachromatic Leukodystrophy	Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Neoplasm of the gallb...	ORPHA:512
Cleft Palate With Or Without Ankyloglossia, X-Linked	Cleft palate, Ankyloglossia, Bifid uvula	OMIM:303400
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Non-Functioning Pituitary Adenoma	Ptosis, Pallor	ORPHA:91349
Chilton-Okur-Chung Neurodevelopmental Syndrome	Hooded eyelid, Plagiocephaly, Synophrys, Smooth philtrum, Agenesis of incisor, Dolichocephaly, Fr...	OMIM:619841
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue	ORPHA:2928
Congenital Tracheal Stenosis	Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi...	ORPHA:141127
Esophageal Atresia	Coloboma, Pyloric stenosis, Pallor, Tracheoesophageal fistula, Intestinal malrotation, Cleft lip,...	ORPHA:1199
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Periportal fibrosis, Fat malabsorption, Jaundice, Hypopituitarism...	ORPHA:30391
Odontoonychodermal Dysplasia	Sparse eyebrow, Palmoplantar erythema, Hypodontia, Widely spaced primary teeth, Agenesis of perma...	OMIM:257980
Trichothiodystrophy	Conjunctivitis, Enamel hypoplasia, Epicanthus, Craniosynostosis, Keratoconjunctivitis sicca, Bila...	ORPHA:33364
Immunodeficiency 31C	Villous atrophy, Intussusception, Lymphopenia, Impaired lymphocyte transformation with phytohemag...	OMIM:614162
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Median cleft lip, Iris coloboma, Holoprosencephaly, Microphthalmia, Cyclopia, Microcephaly, Orofa...	ORPHA:3186
Tarp Syndrome	Short palpebral fissure, High palate, Glossoptosis, Tongue nodules, Cleft palate, Intrauterine gr...	OMIM:311900
Pituitary Apoplexy	Ptosis, Pallor	ORPHA:95613
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Hydrocephalus, Microphthalmia	OMIM:616538
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short palpebral fissure, Coloboma, Long philtrum, Spina bifida, Optic nerve hypoplasia, Almond-sh...	ORPHA:508498
Smith-Lemli-Opitz Syndrome	Bifid tongue, Epicanthus, Biparietal narrowing, Iris coloboma, Holoprosencephaly, Tooth agenesis,...	ORPHA:818
Common Variable Immunodeficiency	Abnormality of the liver, Hemolytic anemia, Anal atresia, Lymphopenia, Autoimmune thrombocytopeni...	ORPHA:1572
Craniosynostosis And Dental Anomalies	Brachycephaly, Downslanted palpebral fissures, Dental malocclusion, Oxycephaly, Narrow palate, Hi...	OMIM:614188
Alternating Hemiplegia Of Childhood	Thin eyebrow, Exaggerated cupid's bow, Downturned corners of mouth, Pallor	ORPHA:2131
Orofaciodigital Syndrome Xiv	Lobulated tongue, Bifid tongue, Natal tooth, Supernumerary tooth, Aplasia of the epiglottis, Ante...	OMIM:615948
Marshall-Smith Syndrome	Irregular dentition, Synophrys, Microdontia, Midface retrusion, Prominent occiput, Optic nerve hy...	OMIM:602535
Neu-Laxova Syndrome 1	Cleft upper lip, Primary microcephaly, Spina bifida, Short umbilical cord, Absent eyelashes, Thic...	OMIM:256520
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Hyperlipoproteinemia, Type Id	Recurrent pancreatitis, Splenomegaly, Hepatomegaly, Colitis, Pancreatitis	OMIM:615947
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Acro-Renal-Ocular Syndrome	Short palpebral fissure, Coloboma, Epicanthus, Aganglionic megacolon, Optic disc hypoplasia, Ptos...	ORPHA:959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Holoprosencephaly, Hydrocephalus, Encephalocele, Microphthalmia	OMIM:253800
Orofaciodigital Syndrome Iii	Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth	OMIM:258850
Fryns Syndrome	Cleft upper lip, Long philtrum, Wide mouth, Esophageal atresia, Blepharophimosis, Aganglionic meg...	OMIM:229850
Prolactinoma	Ptosis, Pallor	ORPHA:2965
X-Linked Agammaglobulinemia	Conjunctivitis, Skin ulcer, Glossoptosis, Malabsorption	ORPHA:47
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormality of the orbital region, Lobar holoprosencephaly, Optic nerve hypoplasia, Bilateral mic...	ORPHA:468631
Spinocerebellar Ataxia 36	Tongue fasciculations, Ptosis, Tongue atrophy	OMIM:614153
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Anal atresia, Anteriorly placed anus, Iris coloboma, Colonic atresia, Microphthalm...	OMIM:309801
Rare Circulatory System Disease	Pallor	ORPHA:98028
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	High palate, Furrowed tongue, Diastema, Thin upper lip vermilion, Microcephaly, Smooth philtrum, ...	OMIM:300534
Blackfan-Diamond Anemia	High palate, Adenocarcinoma of the colon, Cleft soft palate, Epicanthus, Pallor, Ptosis, Microcep...	ORPHA:124
Familial Exudative Vitreoretinopathy	Microphthalmia, Microcephaly	ORPHA:891
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Agel Amyloidosis	Blepharochalasis, Cutis laxa, Bilateral ptosis, Tongue atrophy, Keratoconjunctivitis sicca, Xeros...	ORPHA:85448
Baller-Gerold Syndrome	Brachycephaly, Epicanthus, Bifid uvula, Optic nerve hypoplasia, Spina bifida occulta, Cleft palat...	OMIM:218600
Chand Syndrome	Bifid tongue, Agenesis of maxillary incisor, Ankyloblepharon, Commissural lip pit, Abnormal oral ...	ORPHA:1401
Persistent Hyperplastic Primary Vitreous	Macular hypoplasia, Hyaloid vascular remnant and retrolental mass, Buphthalmos, Remnants of the h...	ORPHA:91495
Hereditary Spherocytosis	Skin ulcer, Pallor	ORPHA:822
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Parietal foramina, High palate, Epicanthus, Blepharophimosis, Antecubital pterygium, Ptosis, Popl...	OMIM:609945
Apolipoprotein C-Ii Deficiency	Pancreatitis, Splenomegaly, Hepatomegaly	OMIM:207750
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Epicanthus, Microdontia, Everted lower lip vermili...	ORPHA:570
3-Hydroxy-3-Methylglutaric Aciduria	Microcephaly, Pallor	ORPHA:20
Linear Skin Defects With Multiple Congenital Anomalies 3	Lacrimal duct atresia, Microphthalmia, Delayed eruption of primary teeth	OMIM:300952
Pallister-Hall Syndrome	Cleft upper lip, Natal tooth, Anal atresia, Anteriorly placed anus, Holoprosencephaly, Microgloss...	OMIM:146510
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati...	OMIM:610199
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth, Hydrocephalus, Pallor, Craniosynostosis	ORPHA:667
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Tongue atrophy	OMIM:601596
Cockayne Syndrome B	Dental malocclusion, Thickened calvaria, Delayed eruption of primary teeth, Normal pressure hydro...	OMIM:133540
Aicardi Syndrome	Cleft upper lip, Sparse lateral eyebrow, Spina bifida, Microphthalmia, Microcephaly, Cleft palate...	OMIM:304050
Hypoglossia-Hypodactylia	Aglossia, Microglossia, Narrow mouth, Epicanthus	OMIM:103300
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Ptosis, Tongue atrophy	ORPHA:276198
Familial Mediterranean Fever	Splenomegaly, Malabsorption, Lymphadenopathy, Gastrointestinal infarctions, Intestinal obstructio...	ORPHA:342
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Psoriasis 14, Pustular	Furrowed tongue, Geographic tongue, Erythema	OMIM:614204
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyebrow, Microdontia, Keratoconjunctivitis sicca, Oral leukoplakia, Furrowed tongue, Spars...	OMIM:148210
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Pallor	ORPHA:98849
Robinow Syndrome, Autosomal Recessive 1	Downslanted palpebral fissures, Bifid tongue, Long philtrum, Wide mouth, Long eyelashes, Long pal...	OMIM:268310
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi...	ORPHA:2442
Roberts Syndrome	Brachycephaly, Cleft upper lip, High palate, Microphthalmia, Microcephaly, Severe intrauterine gr...	ORPHA:3103
Adams-Oliver Syndrome 1	Cleft upper lip, Encephalocele, Microphthalmia, Microcephaly, Calvarial skull defect, Cleft palate	OMIM:100300
Elsahy-Waters Syndrome	Brachycephaly, Abnormality of the anus, Delayed eruption of teeth, Synophrys, Bifid uvula, Midfac...	OMIM:211380
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa...	OMIM:306400
Short-Rib Thoracic Dysplasia 12	Lobulated tongue, Natal tooth, Epicanthus, Anencephaly, Hydrocephalus, Median cleft lip and palat...	OMIM:269860
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Adenohypophysitis	Pallor	ORPHA:95512
Ulnar-Mammary Syndrome	Ectopic anus, Pyloric stenosis, Hypoplasia of penis, Breast aplasia, Anal atresia, Abnormality of...	ORPHA:3138
Acro-Renal-Mandibular Syndrome	Downslanted palpebral fissures, Aplasia/Hypoplasia of the tongue, High palate, Short philtrum, Tr...	ORPHA:958
Aregenerative Anemia	Pallor	ORPHA:101096
Autosomal Recessive Polycystic Kidney Disease	Fat malabsorption, Cholangiocarcinoma, Hepatosplenomegaly, Hepatoblastoma, Protein-losing enterop...	ORPHA:731
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Iris coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Phthisis bulbi	OMIM:221900
Saethre-Chotzen Syndrome	Brachycephaly, Abnormal nasolacrimal system morphology, Oxycephaly, Skull asymmetry, Narrow palat...	OMIM:101400
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Ptosis, Tongue atrophy	OMIM:211530
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasia of the iris, Poste...	OMIM:609049
Panhypophysitis	Pallor	ORPHA:95513
Fanconi Anemia, Complementation Group F	Microphthalmia, Duodenal atresia, Intrauterine growth retardation, Microcephaly	OMIM:603467
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Malabsorption, Steatorrhea, Pallor, Erythema	OMIM:557000
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Otospondylomegaepiphyseal Dysplasia	Cleft palate, Bifid uvula, Midface retrusion, Glossoptosis	ORPHA:1427
Ciliary Dyskinesia, Primary, 19	Male infertility	OMIM:614935
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Downslanted palpebral fissures, Dental malocclusion, High palate, Bifid uvula, Microphthalmia, Sp...	OMIM:601552
Multiple Endocrine Neoplasia Type 2	Ganglioneuromatosis, Aganglionic megacolon, Pallor, Abnormal tongue morphology, Thick vermilion b...	ORPHA:653
Postaxial Acrofacial Dysostosis	Midgut malrotation, Pyloric stenosis, Supernumerary nipple, Cryptorchidism, Cleft palate, Micropenis	OMIM:263750
Papillorenal Syndrome	Optic disc coloboma, Microphthalmia, Retinal coloboma, Orbital cyst	OMIM:120330
Contractures-Developmental Delay-Pierre Robin Syndrome	Downslanted palpebral fissures, Iris coloboma, Cleft palate, High, narrow palate, Glossoptosis	ORPHA:436003
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Robinow Syndrome	Marked delay in eruption of permanent teeth, Dental malocclusion, Tooth malposition, Bifid tongue...	ORPHA:97360
Hyperlipoproteinemia, Type I	Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Phace Syndrome	Abnormality of the orbital region, Lens coloboma, Optic nerve hypoplasia, Ptosis, Iris coloboma, ...	ORPHA:42775
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental morphology, Abnormality of dental color, Coloboma, Cranial asymmetry	OMIM:163200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Bicornuate uter...	ORPHA:93111
Phace Association	Horner syndrome, Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Witteveen-Kolk Syndrome	Short palpebral fissure, Downslanted palpebral fissures, Medial flaring of the eyebrow, High pala...	OMIM:613406
Isolated Arrhinia	Eyelid coloboma, Microphthalmia	ORPHA:1134
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Microcephaly	OMIM:610651
Orofaciodigital Syndrome Type 14	Lobulated tongue, Bifid tongue, Supernumerary tooth, Aplasia of the epiglottis, Trigonocephaly, M...	ORPHA:434179
Catel-Manzke Syndrome	Cleft upper lip, Pierre-Robin sequence, High palate, Glossoptosis, Thin eyebrow, Bifid uvula, Nar...	OMIM:616145
Orofaciodigital Syndrome Type 3	Irregular dentition, Lobulated tongue, Bifid uvula, Hamartoma of tongue, Abnormality of the denti...	ORPHA:2752
Okamoto Syndrome	Abnormally large globe, Exaggerated median tongue furrow, Midface retrusion, Long palpebral fissu...	ORPHA:2729
Cerebrocostomandibular Syndrome	Downslanted palpebral fissures, Pierre-Robin sequence, Cleft soft palate, High palate, Epicanthus...	OMIM:117650
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Tetraamelia Syndrome 2	Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip	OMIM:618021
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis	ORPHA:2483
Methylmalonic Aciduria And Homocystinuria, Cblf Type	High palate, Epicanthus, Glossitis, Stomatitis, Tracheoesophageal fistula, Thin upper lip vermilion	OMIM:277380
Rabson-Mendenhall Syndrome	High palate, Advanced eruption of teeth, Macroglossia, Intrauterine growth retardation, Furrowed ...	ORPHA:769
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis	ORPHA:93346
Orofaciodigital Syndrome Type 2	Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ...	ORPHA:2751
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Hypodontia, Anal atresia, Narrow ...	ORPHA:989
Stuve-Wiedemann Syndrome 1	Short palpebral fissure, Premature skin wrinkling, Midface retrusion, Frontal bossing, Smooth ton...	OMIM:601559
Tarp Syndrome	Short palpebral fissure, Pierre-Robin sequence, Glossoptosis, Tongue nodules, Abnormal duodenum m...	ORPHA:2886
Pallister-Hall Syndrome	Downslanted palpebral fissures, Scaphocephaly, Natal tooth, Arrhinencephaly, Bifid uvula, Anal at...	ORPHA:672
Cockayne Syndrome	Enamel hypoplasia, Dental malocclusion, Abnormal number of teeth, Delayed eruption of primary tee...	ORPHA:191
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Downslanted palpebral fissures, High palate, Long philtrum, Plagiocephaly, Synophrys, Long eyelas...	ORPHA:444077
Idiopathic Hypereosinophilic Syndrome	Malabsorption, Colitis, Pallor	ORPHA:3260
Immunodeficiency 82 With Systemic Inflammation	Anemia, Reduced natural killer cell count, Crohn's disease, T lymphocytopenia, B lymphocytopenia,...	OMIM:619381
Roberts-Sc Phocomelia Syndrome	Brachycephaly, Downslanted palpebral fissures, Cleft upper lip, High palate, Coloboma, Craniosyno...	OMIM:268300
Androgen Insensitivity Syndrome	Male infertility	ORPHA:754
Tsh-Secreting Pituitary Adenoma	Ptosis, Pallor	ORPHA:91347
47,Xyy Syndrome	Oligospermia, Male infertility, Azoospermia	ORPHA:8
Bazex Syndrome	Furrowed tongue	OMIM:301845
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Glossitis, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy	OMIM:175500
Tetraamelia Syndrome 1	Cleft upper lip, Hydrocephalus, Anal atresia, Microphthalmia, Cleft palate	OMIM:273395
Hydrolethalus Syndrome 1	Anencephaly, Arrhinencephaly, Median cleft lip, Microphthalmia, Cleft palate, Severe hydrocephalu...	OMIM:236680
Hartnup Disease	Malabsorption, Gingivitis, Glossitis	ORPHA:2116
Infection-Related Hemolytic Uremic Syndrome	Intussusception, Intestinal perforation, Acute colitis, Pallor	ORPHA:544482
Autosomal Dominant Cerebellar Ataxia	Tongue fasciculations, Ptosis, Erythema, Tongue atrophy	ORPHA:99
Cowden Syndrome 5	Colonic diverticula, High palate, Narrow mouth, Furrowed tongue, Hamartomatous polyposis	OMIM:615108
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent infection of the gastrointestinal tract, Aplasia of the sweat glands, Splenomegaly, Hep...	OMIM:612132
Distal Monosomy 15Q	Bifid tongue, Blepharophimosis, Short philtrum, Thin upper lip vermilion, Flat occiput, Microceph...	ORPHA:1596
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Coloboma, Microphthalmia	ORPHA:85167
Junctional Epidermolysis Bullosa With Pyloric Atresia	Intestinal atresia, Congenital pyloric atresia, Urethral stricture	ORPHA:79403
Giant Cell Arteritis	Ptosis, Skin ulcer, Glossitis	ORPHA:397
Cowden Syndrome 6	Colonic diverticula, High palate, Narrow mouth, Furrowed tongue, Hamartomatous polyposis	OMIM:615109
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of dental morphology, Scaling skin, Anoperineal fistula, Abnormal tongue morphology, ...	ORPHA:158668
Mowat-Wilson Syndrome	Downslanted palpebral fissures, Delayed eruption of teeth, Widely spaced teeth, Broad eyebrow, Py...	OMIM:235730
Methylmalonic Acidemia With Homocystinuria Type Cblf	Cleft palate, Stomatitis, Glossitis, Intrauterine growth retardation	ORPHA:79284
8Q24.3 Microdeletion Syndrome	Upslanted palpebral fissure, Long philtrum, Cleft maxillary alveolar ridge, Epicanthus, Long eyel...	ORPHA:508488
Wiedemann-Rautenstrauch Syndrome	Lagophthalmos, Synophrys, Submucous cleft soft palate, Cranial asymmetry, Optic disc hypoplasia, ...	ORPHA:3455
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Pallor	ORPHA:892
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy, Optic nerve hypoplasia	ORPHA:101085
Stickler Syndrome	Cleft upper lip, Long philtrum, Glossoptosis, Epicanthus, Advanced eruption of teeth, Midface ret...	ORPHA:828
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus, Stomatitis, Glossitis, Microcephaly, Smooth philtrum, Macular coloboma, Intrauteri...	ORPHA:79282
Cowden Syndrome 1	Colonic diverticula, High palate, Narrow mouth, Furrowed tongue, Hamartomatous polyposis	OMIM:158350
Cockayne Syndrome Type 3	Enamel hypoplasia, Keratoconjunctivitis sicca, Progressive microcephaly, Microphthalmia, Carious ...	ORPHA:90324
Complete Androgen Insensitivity Syndrome	Male infertility, Primary amenorrhea	ORPHA:99429
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Oral mucosal blisters, Smooth tongue, Erythema, Craniosynostosis	ORPHA:79396
Myopathy, Myofibrillar, 7	Tongue atrophy	OMIM:617114
Partial Androgen Insensitivity Syndrome	Male infertility, Azoospermia, Male sexual dysfunction, Primary amenorrhea	ORPHA:90797
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft upper lip, Bifid tongue, Anal atresia, Intestinal malrotation, Cleft palate, Hamartoma of t...	OMIM:613091
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased fertility, Irregular menstruation, Male hypogonadism, Male infertility, Primary amenorrhea	ORPHA:90793
Ulnar-Mammary Syndrome	Imperforate hymen, Anterior pituitary hypoplasia, Bicornuate uterus, Shawl scrotum, Pyloric steno...	OMIM:181450
Ciliary Dyskinesia, Primary, 1	Male infertility	OMIM:244400
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Erythematous oral mucosa, Keratoconjunctivitis	OMIM:158310
Viss Syndrome	Brachycephaly, Bifid tongue, Cleft soft palate, Bifid uvula, Submucous cleft soft palate, Celiac ...	OMIM:619472
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Delayed eruption of teeth, Primary microcephaly, Broad eyebrow, Bifid uvula, Iris coloboma, Cleft...	ORPHA:261537
Mowat-Wilson Syndrome	Delayed eruption of teeth, Broad eyebrow, Bifid uvula, Everted lower lip vermilion, Iris coloboma...	ORPHA:2152
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Persistence of primary teeth, Bilateral microphthalmos, Intrauterine growth retard...	ORPHA:93325
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Epicanthus, Delayed eruption of teeth, Broad eyebrow, Primary microcephaly, Bifid uvula, Iris col...	ORPHA:261552
Epidermolysis Bullosa Simplex With Pyloric Atresia	Congenital pyloric atresia, Abnormality of the urethra	ORPHA:158684
Aromatase Deficiency	Female infertility, Male infertility, Hypergonadotropic hypogonadism, Primary amenorrhea	ORPHA:91
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia, Microcephaly	OMIM:259770
Pachyonychia Congenita 3	Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia	OMIM:615726
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Spondyloepiphyseal Dysplasia Congenita	Cleft palate, Glossoptosis	ORPHA:94068
Kawasaki Disease	Conjunctivitis, Palmoplantar erythema, Glossitis, Ptosis, Cheilitis	ORPHA:2331
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700
Townes-Brocks Syndrome	Wide mouth, Blepharophimosis, Rectoperineal fistula, Limbal dermoid, Anal atresia, Anteriorly pla...	ORPHA:857
Norrie Disease	Hypoplasia of the iris, Remnants of the hyaloid vascular system, Microphthalmia, Microcephaly, Th...	ORPHA:649
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy	ORPHA:99949
Williams Syndrome	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Peptic ulcer, Precocious puberty, Co...	ORPHA:904
Cowden Syndrome	Colorectal polyposis, High palate, Macroglossia, Conjunctival hamartoma, Furrowed tongue, Hamarto...	ORPHA:201
Glucagonoma	Stomatitis, Glossitis, Steatorrhea, Intestinal obstruction, Necrolytic migratory erythema	ORPHA:97280
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Microcephaly, Tongue atrophy	ORPHA:466768
46,Xy Partial Gonadal Dysgenesis	Decreased fertility in females, Azoospermia, Male infertility, Hypergonadotropic hypogonadism, Pr...	ORPHA:251510
Plague	Enterocolitis, Skin ulcer, Glossitis, Chapped lip, Inflammation of the large intestine, Dry skin,...	ORPHA:707
Lowe Oculocerebrorenal Syndrome	Enamel hypoplasia, Microphthalmia	OMIM:309000
Goodpasture Syndrome	Pallor	OMIM:233450
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cleft upper lip, Bifid tongue, Long philtrum, Ectopic anus, Esophageal atresia, Epicanthus, Anal ...	ORPHA:93271
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Hydrocephalus, Microphthalmia	OMIM:175780
Microsporidiosis	Glossitis, Keratoconjunctivitis	ORPHA:2552
Stüve-Wiedemann Syndrome	Intrauterine growth retardation, Smooth tongue, Abnormality of the dentition	ORPHA:3206
Carney Complex	Nodular changes affecting the eyelids, Neoplasm of the stomach, Striae distensae, Abnormal hard p...	ORPHA:1359
Congenital Total Pulmonary Venous Return Anomaly	Pallor	ORPHA:99125

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tmem209

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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.

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MGI Allele	Allele Type	Produced
Tmem209^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Tmem209^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tmem209^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tmem209^{tm39362(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Tmem209^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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Gene: Tmem209 MGI:1919899

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E18.5

X-ray

X-ray

Gross Pathology and Tissue Collection

X-ray

Histopathology

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Tmem209 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data