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Gene: Tmem209 MGI:1919899

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Gene Summary

Name:
transmembrane protein 209
Synonyms:
2700094F01Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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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 Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

3 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

3 Images

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Human diseases caused by Tmem209 mutations

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

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

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

The table below shows human diseases predicted to be associated to Tmem209 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 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
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Anencephaly 2
Short palpebral fissure, Anencephaly, Anophthalmia, Median cleft palate, Cleft maxillary alveolar... OMIM:619452
Microphthalmia/Coloboma 5
Orofacial cleft, Bilateral microphthalmos, Microphthalmia, Anophthalmia, Holoprosencephaly, Chori... OMIM:611638
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Ankyloblepharon, Anophthalmia ORPHA:85275
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619528
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 25
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia OMIM:617960
Spermatogenic Failure 63
Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 50
Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Spermatogenic Failure 30
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Microphthalmia, High palate, Narrow mouth, Microcephaly, Epicanthus, Upslanted pal... ORPHA:2528
Microphthalmia/Coloboma 10
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Anophthalmia OMIM:616428
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip OMIM:600776
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia ORPHA:1646
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Orbital cyst, Orbital encephalocele, Cleft palate, Eyelid coloboma OMIM:164180
Mantle Cell Lymphoma
Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy ORPHA:52416
Cerebrooculonasal Syndrome
Brachycephaly, Widely spaced teeth, Solitary median maxillary central incisor, Anophthalmia, High... ORPHA:66625
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia/Coloboma 4
Orbital cyst, Microphthalmia, Coloboma OMIM:251505
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Anophthalmia Plus Syndrome
Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bifida, Cleft pal... ORPHA:1104
9q subtelomeric deletion syndrome
Microcephaly, Protruding tongue, Synophrys DECIPHER:52
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Hartsfield Syndrome
Microphthalmia, Encephalocele, Telecanthus, Non-midline cleft of the upper lip, Lobar holoprosenc... ORPHA:2117
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Microphthalmia, Syndromic 8
Short palpebral fissure, Microphthalmia, Orofacial cleft, Premature skin wrinkling, Microcephaly,... OMIM:601349
Meckel Syndrome, Type 8
Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Microcephaly, Cleft upper l... OMIM:613885
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Brachycephaly, Gingival overgrowth, Dry skin, Protruding tongue, Horizontal eyebrow, Thick eyebro... OMIM:618797
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Secondary microcephaly, Thin vermilion border, Hydrocephalus, Alveolar ridge overgrowth, Protrudi... OMIM:612938
Non-Distal Duplication 10Q
Brachycephaly, High palate, Everted lower lip vermilion, Microcephaly, Frontal bossing, Downslant... ORPHA:1695
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Lymphadenopathy, Gastroesophageal reflux ORPHA:99976
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Intellectual Developmental Disorder, Autosomal Dominant 58
Plagiocephaly, Dental crowding, High palate, Protruding tongue, Microcephaly, Downslanted palpebr... OMIM:618106
Portal Hypertension, Noncirrhotic, 1
Esophageal varix, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate, Abnormal calvaria morphology ORPHA:2432
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Gombo Syndrome
Microcephaly, Microphthalmia OMIM:233270
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Microphthalmia, Syndromic 16
Microphthalmia, Ankyloblepharon, Anophthalmia OMIM:611038
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Downturned corners of mouth, Smooth philtrum, Protruding tongue OMIM:618732
Craniotelencephalic Dysplasia
Microphthalmia, Craniosynostosis, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Frontal bos... ORPHA:1528
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Anophthalmia, Short philtrum, Everted lower lip vermilion, Synophrys, Long eyelashes... ORPHA:411986
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Microphthalmia, Isolated 8
Short palpebral fissure, Microphthalmia, True anophthalmia, Entropion, Anophthalmia, Optic nerve ... OMIM:615113
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma OMIM:613703
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Cerebrooculonasal Syndrome
Solitary median maxillary central incisor, Optic nerve hypoplasia, Broad philtrum, Long philtrum,... OMIM:605627
Ring Chromosome 22 Syndrome
Protruding tongue, Microcephaly, Dolichocephaly, Thick eyebrow, Thick vermilion border, Epicanthus ORPHA:1446
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Microphthalmia, Syndromic 12
Intestinal malrotation, Microphthalmia, Cleft palate, Anophthalmia OMIM:615524
Microcephaly 26, Primary, Autosomal Dominant
Gingival overgrowth, Protruding tongue, Microcephaly, Trigonocephaly, Long palpebral fissure, Lon... OMIM:619179
Baraitser-Winter Syndrome 2
Secondary microcephaly, Orofacial cleft, Microphthalmia, Telecanthus, Highly arched eyebrow, Colo... OMIM:614583
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Solitary Median Maxillary Central Incisor
Microphthalmia, Cyclopia, Solitary median maxillary central incisor, Anophthalmia, Coloboma, Prom... OMIM:147250
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Kleefstra Syndrome 1
Brachycephaly, Everted lower lip vermilion, Synophrys, Microcephaly, Persistence of primary teeth... OMIM:610253
Pierpont Syndrome
Brachycephaly, Thin vermilion border, Microphthalmia, Widely spaced teeth, Telecanthus, Long uppe... ORPHA:487825
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Congenital Disorder Of Glycosylation, Type Iia
Brachycephaly, Thin vermilion border, Gingival overgrowth, Everted lower lip vermilion, Long eyel... OMIM:212066
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Syndromic 13
Microphthalmia, Microcephaly, Ptosis, Widely-spaced incisors, Chorioretinal coloboma, Iris coloboma OMIM:300915
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Acrocallosal Syndrome
Everted upper lip vermilion, Prominent occiput, Abnormal oral frenulum morphology, Bifid uvula, W... OMIM:200990
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia, Cleft palate, Microcephaly OMIM:616570
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Short palpebral fissure, Short philtrum, Highly arched eyebrow, Narrow mouth, Micr... OMIM:615834
Joubert Syndrome 1
Plagiocephaly, Highly arched eyebrow, Protruding tongue, Occipital myelomeningocele, Ptosis, Micr... OMIM:213300
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Icf Syndrome
Protruding tongue, Communicating hydrocephalus, Epicanthus, Umbilical hernia, Macroglossia ORPHA:2268
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia, Orofacial cleft, Hydrocephalus, Coloboma ORPHA:324416
Facial Clefting, Oblique, 1
Cleft upper lip, Microphthalmia, Cleft palate, Coloboma OMIM:600251
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Raine Syndrome
Brachycephaly, Plagiocephaly, Hydrocephalus, Highly arched eyebrow, Gingival overgrowth, High pal... OMIM:259775
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Serrated Polyposis Syndrome
Ovarian neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis, Pros... ORPHA:157798
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Microphthalmia, Encephalocele, Telecanthus, Conical tooth, Abnormality of the dent... ORPHA:228390
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, T lymphocytopenia, Splenomegaly OMIM:608971
Adenylosuccinate Lyase Deficiency
Brachycephaly, Flat occiput, Microcephaly, Smooth philtrum, Long philtrum, Thin upper lip vermilion ORPHA:46
Neurodevelopmental Disorder With Variable Motor And Language Impairment
High palate, Everted lower lip vermilion, Synophrys, Microcephaly, Protruding tongue, Downslanted... OMIM:617804
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Iris coloboma OMIM:120433
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho... ORPHA:2978
Hydrolethalus
Microphthalmia, Gingival cleft, Anencephaly, Anophthalmia, Hydrocephalus, Bifid uvula, Unilateral... ORPHA:2189
Potocki-Shaffer Syndrome
Brachycephaly, Turricephaly, Telecanthus, Short philtrum, Parietal foramina, Sparse lateral eyebr... OMIM:601224
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Kleefstra Syndrome Due To 9Q34 Microdeletion
Brachycephaly, Highly arched eyebrow, Everted lower lip vermilion, Synophrys, Microcephaly, Protr... ORPHA:96147
Angelman Syndrome
Secondary microcephaly, Brachycephaly, Widely spaced teeth, Protruding tongue, Wide mouth, Flat o... OMIM:105830
Clark-Baraitser Syndrome
Brachycephaly, Short philtrum, Exaggerated cupid's bow, High palate, Microcephaly, Downturned cor... OMIM:617752
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Angelman Syndrome Due To A Point Mutation
Secondary microcephaly, Widely spaced teeth, Cessation of head growth, Protruding tongue, Wide mo... ORPHA:411511
Frontofacionasal Dysplasia
Brachycephaly, Microphthalmia, Upper eyelid coloboma, Encephalocele, Telecanthus, Absent inner ey... ORPHA:1791
Congenital Sialidosis Type 2
Hydrocephalus, Petechiae, Gingival overgrowth, Protruding tongue, Hypoplasia of the fovea, Umbili... ORPHA:93400
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Pierpont Syndrome
Brachycephaly, Thin vermilion border, Microphthalmia, Widely spaced teeth, Telecanthus, Long uppe... OMIM:602342
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Optic ner... OMIM:618736
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, High, narrow palate, Telecanthus, Ethmoidal encephalocele, Optic nerve ... OMIM:607597
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Mmep Syndrome
Microcephaly, Orofacial cleft, Microphthalmia, Median cleft upper lip ORPHA:3434
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Upper eyelid coloboma, Telecanthus, Coloboma, Conjunctival hyperemia, Absent lacr... OMIM:167730
Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Upper eyelid coloboma, Anophthalmia, Cryptophthalmos, Anteriorly p... ORPHA:2717
Trisomy 13
Long philtrum, Microphthalmia, High, narrow palate, Anophthalmia, Abnormal eyelash morphology, Ab... ORPHA:3378
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia, Craniosynostosis OMIM:218670
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology ORPHA:100025
Frontonasal Dysplasia 3
Brachycephaly, Microphthalmia, Upper eyelid coloboma, Absent eyebrow, Sparse eyelashes, Cleft palate OMIM:613456
Down Syndrome
Brachycephaly, Narrow palate, Aganglionic megacolon, Thick lower lip vermilion, Narrow mouth, Abn... ORPHA:870
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Gómez-López-Hernández Syndrome
Brachycephaly, Thin vermilion border, Turricephaly, Telecanthus, Hydrocephalus ORPHA:1532
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Microphthalmia With Limb Anomalies
Short palpebral fissure, Microphthalmia, Anophthalmia, Abnormal eyelash morphology, High palate, ... OMIM:206920
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
2Q24 Microdeletion Syndrome
Microphthalmia, Short philtrum, Coloboma, Abnormal oral frenulum morphology, Downslanted palpebra... ORPHA:1617
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Fontaine Progeroid Syndrome
Microphthalmia, Turricephaly, Aplastic/hypoplastic lacrimal glands, Redundant skin, Everted lower... OMIM:612289
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Secondary microcephaly, Widely spaced teeth, Cessation of head growth, Protruding tongue, Wide mouth ORPHA:98795
Congenital Disorder Of Glycosylation, Type Iie
Short palpebral fissure, Excessive wrinkled skin, Progressive microcephaly, Upslanted palpebral f... OMIM:608779
Cornelia De Lange Syndrome 2
Brachycephaly, Highly arched eyebrow, High palate, Long eyelashes, Microcephaly, Synophrys, Downs... OMIM:300590
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Microphthalmia, Prominent occiput, Bilateral cleft palat... OMIM:619339
Leukocyte Adhesion Deficiency Type Ii
Narrow palate, Palpebral edema, Severe periodontitis, Broad eyebrow, Premature loss of teeth, Lon... ORPHA:99843
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Temtamy Syndrome
Abnormal palate morphology, Microphthalmia, Thick lower lip vermilion, Telecanthus, Dolichocephal... ORPHA:1777
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis OMIM:619164
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Developmental And Epileptic Encephalopathy 31B
Secondary microcephaly, Gingival overgrowth, Protruding tongue, Long palpebral fissure, Almond-sh... OMIM:620352
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Burkitt Lymphoma
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality ... ORPHA:543
Developmental And Epileptic Encephalopathy 80
High palate, Protruding tongue, Wide mouth, Tented upper lip vermilion, Smooth philtrum, Long phi... OMIM:618580
Braddock-Carey Syndrome 2
Microphthalmia, Microcephaly, Downslanted palpebral fissures, Pierre-Robin sequence, Cleft palate... OMIM:619981
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Corneopalpebral synechiae, Anophthalmia, Cryptophthalmos, Eyelid c... OMIM:248450
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Microphthalmia/Coloboma 3
Microphthalmia, Iris coloboma OMIM:610092
Chromosome 3Pter-P25 Deletion Syndrome
Brachycephaly, Long philtrum, Flat occiput, Thin vermilion border, Highly arched eyebrow, High pa... OMIM:613792
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Epicanthus, Protruding tongue OMIM:242860
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Secondary microcephaly, Widely spaced teeth, Cessation of head growth, Protruding tongue, Wide mo... ORPHA:98794
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia, Microcephaly ORPHA:291
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ... OMIM:616602
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Splenomegaly ORPHA:664
Cat-Eye Syndrome
Microphthalmia, Anal atresia, Downslanted palpebral fissures, Chorioretinal coloboma, Intrauterin... ORPHA:195
Fetal Alcohol Syndrome
Microphthalmia, Telecanthus, Non-midline cleft of the upper lip, Biparietal narrowing, Microdonti... ORPHA:1915
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, High palate, Microcephaly, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin, Conjunctivitis OMIM:603165
Proboscis Lateralis
Microphthalmia, Optic nerve hypoplasia, Abnormal eyebrow morphology, Long philtrum, Nasolacrimal ... ORPHA:141099
Peroxisome Biogenesis Disorder 1A (Zellweger)
Redundant neck skin, High, narrow palate, High palate, Brachyturricephaly, Protruding tongue, Epi... OMIM:214100
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Thick lower lip vermilion, Protruding tongue, Microcephaly, Thick vermilion border, Epicanthus, U... OMIM:301040
Marshall-Smith Syndrome
Craniosynostosis, Gingival overgrowth, Open mouth, Protruding tongue ORPHA:561
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, High palate, Synophrys, Microcephaly, Ptosis, Protruding tongue, Epicanthu... OMIM:617062
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, Medial flaring of the eyebrow, Widely spaced teeth, Dry skin, Microdontia, Microce... OMIM:617364
Frontofacionasal Dysplasia
Brachycephaly, S-shaped palpebral fissures, Microphthalmia, Iris coloboma, Orofacial cleft, Telec... OMIM:229400
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Short philtrum, Alobar holoprosencephaly, High palate, Ptosis, Down... OMIM:615433
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
8Q12 Microduplication Syndrome
Brachycephaly, Telecanthus, Highly arched eyebrow, Narrow mouth, Everted lower lip vermilion, Lon... ORPHA:228399
Frontonasal Dysplasia 2
Brachycephaly, Short palpebral fissure, Microphthalmia, Widely spaced teeth, Encephalocele, Telec... OMIM:613451
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Monosomy 18P
Brachycephaly, Microphthalmia, Short philtrum, Tooth malposition, Microcephaly, Ptosis, Carious t... ORPHA:1598
Peripheral Cone Dystrophy
Pallor OMIM:609021
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Isolated Pierre Robin Syndrome
Cleft palate, Glossoptosis ORPHA:718
Nabais Sa-De Vries Syndrome, Type 1
Brachycephaly, Telecanthus, Highly arched eyebrow, Optic nerve hypoplasia, Long eyelashes, Synoph... OMIM:618828
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Juvenile Sialidosis Type 2
Gingival overgrowth, Protruding tongue, Umbilical hernia ORPHA:93399
Kleefstra Syndrome 2
Plagiocephaly, Everted lower lip vermilion, Microcephaly, Bifid uvula, Thick eyebrow OMIM:617768
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Esophageal atresia, Anophthalmia, Hydrocephalus, Tracheoesophageal fistula, Holop... ORPHA:77298
Frontonasal Dysplasia 1
Microphthalmia, Coloboma, Anterior basal encephalocele, Median cleft palate, Ptosis, Epicanthus, ... OMIM:136760
Nanophthalmos
Microphthalmia ORPHA:35612
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Brachycephaly, Bilateral ptosis, Downslanted palpebral fissures, Downturned corners of mouth, Dee... OMIM:618859
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, High, narrow palate, Aniridia, Anophthalmia, Abnormal size of the palpebral fissur... ORPHA:1101
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Holoprosencephaly
Microphthalmia, Solitary median maxillary central incisor, Highly arched eyebrow, Tooth agenesis,... ORPHA:2162
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Testicular seminoma, Hypogonadism, Abnormal stomach morphology, Cryptorchidism ORPHA:281090
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Highly arched eyebrow, Oligodontia, High palate, Microcephaly, Frontal bossing, Cl... OMIM:600325
Angelman Syndrome
Widely spaced teeth, Protruding tongue, Microcephaly, Ptosis, Wide mouth, Flat occiput ORPHA:72
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Camptodactyly Syndrome, Guadalajara Type 1
Brachycephaly, Telecanthus, Highly arched eyebrow, Open bite, High palate, Narrow mouth, Spina bi... ORPHA:1327
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Widely spaced teeth, Microdontia, Microcephaly, Sparse lateral eyebrow, Long palp... OMIM:619694
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Brachycephaly, Thick upper lip vermilion, Thick lower lip vermilion, Wide mouth OMIM:309545
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Widely spaced teeth, Short philtrum, High palate, Cleft upper lip, Microcephaly, ... OMIM:612530
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Long philtrum, Thick lower lip vermilion, Optic nerve hypoplasia, Cranial asymmetry, Downslanted ... ORPHA:137634
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari... ORPHA:64743
Bresek Syndrome
Plagiocephaly, Microphthalmia, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Micr... ORPHA:85284
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Sandestig-Stefanova Syndrome
Orofacial cleft, Microphthalmia, Highly arched eyebrow, Laterally extended eyebrow, High palate, ... OMIM:618804
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Microphthalmia, Coloboma OMIM:274270
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Microcephaly, Plagiocephaly, Flat occiput, Brachycephaly ORPHA:2898
Otodental Syndrome
Microphthalmia, Taurodontia, Agenesis of premolar, Abnormality of canine, Delayed eruption of tee... ORPHA:2791
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft palate, Ptosis, Chorioretinal coloboma, Iris coloboma ORPHA:1473
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Prominent occiput, Highly arched eyebrow, Microdontia, Microcephaly, Intraut... OMIM:617360
Cockayne Syndrome Type 2
Hypoplasia of the primary teeth, Anophthalmia, Enamel hypoplasia, Conjunctivitis, Intrauterine gr... ORPHA:90322
Trisomy 1Q
Anophthalmia, Hydrocephalus, Narrow mouth, Anal atresia, Frontal bossing, Downslanted palpebral f... ORPHA:261344
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Coloboma ORPHA:141333
Primary Lateral Sclerosis, Juvenile
Pallor, Difficulty in tongue movements OMIM:606353
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Short philtrum, Exaggerated cupid's bow, Synophrys, Microcephaly, Frontal bossing... OMIM:620098
Ritscher-Schinzel Syndrome 2
Short philtrum, High palate, Protruding tongue, Intestinal malrotation, Upslanted palpebral fissure OMIM:300963
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Microcephaly, Cleft palat... OMIM:611134
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Nanophthalmos 4
Microphthalmia OMIM:615972
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Acute Myelomonocytic Leukemia
Pallor, Abnormality of the gingiva ORPHA:517
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Baraitser-Winter Syndrome 1
Orofacial cleft, Microphthalmia, Highly arched eyebrow, Microcephaly, Trigonocephaly, Ptosis, Lon... OMIM:243310
Oculocerebrofacial Syndrome, Kaufman Type
Brachycephaly, Short palpebral fissure, Thin vermilion border, High, narrow palate, Telecanthus, ... ORPHA:2707
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Neurooculocardiogenitourinary Syndrome
Secondary microcephaly, Redundant neck skin, Microphthalmia, Coloboma, Downturned corners of mout... OMIM:618652
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Brachycephaly, Plagiocephaly, Bilateral microphthalmos, Widely spaced teeth, High palate, Horizon... ORPHA:369891
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Cleft palate OMIM:610125
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Cleft upper lip, Cleft palate OMIM:611561
Ring Chromosome 10 Syndrome
Long philtrum, Microphthalmia, Aganglionic megacolon, Thin vermilion border, Frontal bossing, Dow... ORPHA:1438
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Brachycephaly, Bilateral ptosis, Microphthalmia, Highly arched eyebrow, Abnormal oral frenulum mo... ORPHA:404440
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Plagiocephaly, Frontal bossing, Dental crowding, Synophrys OMIM:619264
X-Linked Dystonia-Parkinsonism
Blepharospasm, Protruding tongue ORPHA:53351
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly, Dental crowding, Synophrys, Ptosis, Downslanted palpebral fissures, Downturned cor... OMIM:615761
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly, Ptosis, Tented upper lip vermilion, Long philtrum OMIM:619972
Degcags Syndrome
Microphthalmia, Microcephaly, Abnormal eyebrow morphology, Wide mouth, Long philtrum, Intrauterin... OMIM:619488
Cofs Syndrome
Intrauterine growth retardation, Microphthalmia, Microcephaly, Everted lower lip vermilion ORPHA:1466
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia... OMIM:602450
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Intestinal malrotation, Cleft palate, In... OMIM:603194
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Xk Aprosencephaly Syndrome
Microcephaly, Microphthalmia, Narrow mouth, Anal atresia ORPHA:3469
Richieri-Costa/Guion-Almeida Syndrome
Brachycephaly, Spina bifida occulta, Microcephaly, Ptosis, Downslanted palpebral fissures, Cleft ... OMIM:268850
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc... OMIM:620367
Cebalid Syndrome
Brachycephaly, Plagiocephaly, Turricephaly, Highly arched eyebrow, High palate, Platystencephaly,... OMIM:618774
Intellectual Developmental Disorder, Autosomal Dominant 74
Brachycephaly, Microcephaly, Downslanted palpebral fissures, Smooth philtrum, Intrauterine growth... OMIM:620688
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Short philtrum, Highly arched eyebrow, Ectopic anus, Downturned corners of mouth, ... ORPHA:94066
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Co... OMIM:613101
Fanconi Anemia, Complementation Group S
Narrow palate, Microphthalmia, Long eyelashes, Microcephaly, Thick upper lip vermilion, Epicanthu... OMIM:617883
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Telecanthus, Whistling appearance, High palate, Narrow mouth, Ptosis, Ep... OMIM:277720
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Colon canc... ORPHA:97290
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Brachycephaly, High palate, Pyloric stenosis, Frontal bossing, Downslanted palpebral fissures, Cr... ORPHA:314575
Vulto-Van Silfhout-De Vries Syndrome
Brachycephaly, Thick lower lip vermilion, High palate, Horizontal eyebrow, Frontal bossing, Tente... OMIM:615828
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus, Downslanted palpebral fissures, Smooth philtrum, Epicanthus OMIM:602501
Plummer-Vinson Syndrome
Cheilitis, Glossitis, Intra-oral hyperpigmentation, Narrow mouth, Esophageal web, Pallor, Tongue ... ORPHA:54028
Chopra-Amiel-Gordon Syndrome
Brachycephaly, Short philtrum, Almond-shaped palpebral fissure, Microcephaly, Cleft palate, Pierr... OMIM:619504
Hallermann-Streiff Syndrome
Microphthalmia, Everted lower lip vermilion, Microcephaly, Thin calvarium, Narrow palate, Selecti... OMIM:234100
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Microphthalmia OMIM:278780
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Microcephaly, Bifid uvula, Cleft palate, Submucous c... ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microphthalmia, Macroglossia, Microcephaly OMIM:613155
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Plagiocephaly, Short philtrum, Microcephaly, Frontal bossing, Downslanted palpebra... OMIM:616801
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Brachycephaly, Synophrys, Microcephaly, Horizontal eyebrow, Downturned corners of mouth, Epicanth... ORPHA:352530
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Cornelia De Lange Syndrome 5
Brachycephaly, Thin vermilion border, Widely spaced teeth, Telecanthus, Highly arched eyebrow, Hi... OMIM:300882
6Q25 Microdeletion Syndrome
Plagiocephaly, High palate, Microcephaly, Downslanted palpebral fissures, Cleft palate, Epicanthu... ORPHA:251056
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Telecanthus, Abnormal eyelash morphology, Coloboma, Mic... ORPHA:2399
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Coloboma, Long eyelashes, Cryptophthalmos, Epicanthus, Long philtrum OMIM:615877
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Short philtrum, Cloverleaf skull, Frontal bossing, Downturned corners of mouth, P... ORPHA:93267
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Long philtrum, Microphthalmia, Thick lower lip vermilion, Microcephaly, Downslanted palpebral fis... OMIM:152950
Potocki-Shaffer Syndrome
Brachycephaly, Short philtrum, Parietal foramina, Downturned corners of mouth, Epicanthus ORPHA:52022
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Sporadic Fetal Brain Disruption Sequence
Microcephaly, Plagiocephaly, Prominent occiput ORPHA:1665
Spermatogenic Failure 77
Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia OMIM:620103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Colon canc... ORPHA:319487
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Hydrocephalus, Long eyelashes, Broad philtrum, Long philtrum, Unila... OMIM:618577
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, Microphthalmia, High palate, Anterior plagiocephaly, Frontal bossing, Long palpebr... ORPHA:163649
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Brachycephaly ORPHA:404493
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Biliary tract abnormality, Spleno... ORPHA:79301
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Iris coloboma, Coloboma OMIM:610023
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Lymphadenopathy, Anal canal squamous cell carcinoma, Neoplasm of ... ORPHA:424019
Holoprosencephaly 9
Microphthalmia, Solitary median maxillary central incisor, Optic nerve hypoplasia, Bilateral clef... OMIM:610829
Joubert Syndrome 14
Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Highly arched eyebrow, Coloboma, Short... OMIM:614424
Deafness, X-Linked 7
Ptosis, Thick eyebrow, Unilateral microphthalmos, Telecanthus OMIM:301018
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ptosis, Pallor OMIM:613561
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Microcephaly OMIM:616171
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Holoprosencephaly 7
Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Cranial asymme... OMIM:610828
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Ectopic anus, High palate, Abnormality of the dentition, Biparietal nar... ORPHA:251038
Pontocerebellar Hypoplasia, Type 3
Brachycephaly, High, narrow palate, Progressive microcephaly, High palate, Long palpebral fissure... OMIM:608027
Skin Creases, Congenital Symmetric Circumferential, 1
Brachycephaly, Short palpebral fissure, Microphthalmia, High palate, Narrow mouth, Microcephaly, ... OMIM:156610
Craniodigital-Intellectual Disability Syndrome
Brachycephaly, Thick eyebrow, Spina bifida occulta, Long eyelashes ORPHA:1514
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly... OMIM:603552
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short palpebral fissure, Glossoptosis, High palate, Frontal bossing, Downslanted palpebral fissur... OMIM:613604
Stevenson-Carey Syndrome
Brachycephaly, Microphthalmia, Coloboma, Narrow mouth, Downturned corners of mouth, Downslanted p... OMIM:611961
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Microcephaly, Protruding tongue OMIM:619580
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Short philtrum, High palate, Microcephaly, Frontal bossing, Downslanted palpebral... OMIM:614105
2Q32Q33 Microdeletion Syndrome
Brachycephaly, Thin vermilion border, Dental crowding, Oligodontia, High palate, Narrow mouth, Mi... ORPHA:251019
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Abs... OMIM:261000
Warburg Micro Syndrome 1
Thin vermilion border, Microphthalmia, Narrow mouth, Microcephaly, Ptosis OMIM:600118
Auriculocondylar Syndrome 2A
Short mandibular rami, Mandibular condyle hypoplasia, Dental crowding, Glossoptosis, Narrow mouth... OMIM:614669
Developmental And Epileptic Encephalopathy 100
Short palpebral fissure, Gingival overgrowth, High palate, Microdontia, Synophrys, Protruding ton... OMIM:619777
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Abnormal intestine morph... ORPHA:397596
Gm1-Gangliosidosis, Type Ii
Gingival overgrowth, Narrow mouth, Protruding tongue OMIM:230600
Breath-Holding Spells
Pallor OMIM:607578
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly ORPHA:75234
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Splenomegaly, ... OMIM:121300
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Fetal Trimethadione Syndrome
Brachycephaly, High palate, Synophrys, Microcephaly, Ptosis, Epicanthus, Intrauterine growth reta... ORPHA:1913
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Down Syndrome
Brachycephaly, Redundant neck skin, Aganglionic megacolon, Anal atresia, Protruding tongue, Duode... OMIM:190685
Temtamy Syndrome
Microphthalmia, Highly arched eyebrow, Dental crowding, Frontal bossing, Downslanted palpebral fi... OMIM:218340
Cataract 9, Multiple Types
Microphthalmia, Iris coloboma OMIM:604219
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Cleft palate, High palate, Tooth agenesis ORPHA:1135
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Coloboma, Unilateral microphthalmos, Anal atresia, Microcephaly, Unilat... OMIM:619318
Developmental And Epileptic Encephalopathy 65
Microcephaly, Plagiocephaly, Tented upper lip vermilion, Highly arched eyebrow OMIM:618008
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Narrow mouth, Everted lower lip vermilion, Long eyelashes, Microcephaly, Downslant... OMIM:618089
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Retinal coloboma, Horizontal eyebrow, Frontal bossing, Cleft lip, Dolichocephaly,... OMIM:618571
Frontorhiny
Microphthalmia, Encephalocele, Ptosis, Bifid tongue, Basal encephalocele, Cleft palate, Epicanthu... ORPHA:391474
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Esophageal varix, Ascites, Portal hypertension, Thrombocy... OMIM:619463
Oculodentodigital Dysplasia, Autosomal Recessive
Brachycephaly, Short palpebral fissure, Microphthalmia, Hypoplasia of the primary teeth, Thin ver... OMIM:257850
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Brachycephaly, Long philtrum, Encephalocele, Ptosis, Downslanted palpebral fissures, Eyelid colob... ORPHA:2211
Blepharophimosis-Impaired Intellectual Development Syndrome
Plagiocephaly, Widely spaced teeth, Short philtrum, Dental malocclusion, Highly arched eyebrow, E... OMIM:619293
Fraser Syndrome 1
Bilateral microphthalmos, Difficulty in tongue movements, Upper eyelid coloboma, Encephalocele, A... OMIM:219000
Seckel Syndrome 2
Microphthalmia, Microdontia, Microcephaly, Microglossia, Primary microcephaly OMIM:606744
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Brachycephaly, Synophrys, Ptosis, Wide mouth, Upslanted palpebral fissure OMIM:616083
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Plagiocephaly, Coloboma, Everted lower lip vermilion, Frontal bossing, Wide mouth,... OMIM:616789
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Brachycephaly, Craniosynostosis, Thickened calvaria ORPHA:178377
Blepharocheilodontic Syndrome 1
Neural tube defect, Conical tooth, Euryblepharon, Distichiasis, Anal atresia, Cleft upper lip, Ec... OMIM:119580
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Plagiocephaly, Short philtrum, Tooth agenesis, Microcephaly, Ptosis, Downturned corners of mouth,... OMIM:618731
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Oligodontia, Long palpebral fissure, Frontal bossing, Thin upper lip vermilion OMIM:618330
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Microphthalmia, Skin ulcer, Anophthalmia, Abnormal eyelid morphology, Abnormal naso... ORPHA:2526
Lissencephaly 8
Microcephaly, Occipital encephalocele, Microphthalmia OMIM:617255
Vacterl With Hydrocephalus
Aqueductal stenosis, Microphthalmia, Esophageal atresia, Anophthalmia, Hydrocephalus, Tracheoesop... ORPHA:3412
Crouzon Syndrome
Brachycephaly, Narrow palate, Turricephaly, Hydrocephalus, Multiple suture craniosynostosis, Fron... ORPHA:207
Chromosome 13Q33-Q34 Deletion Syndrome
Brachycephaly, Microphthalmia, Advanced eruption of teeth, Anencephaly, Encephalocele, Short phil... OMIM:619148
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis OMIM:613313
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Short palpebral fissure, Microphthalmia, Abnormality of canine, Telecanthus, Oligodontia, Exagger... ORPHA:364577
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Dental malocclusion, Blepharophimosis, Horner s... OMIM:141300
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Occipital encephalocele, Craniosynostosis OMIM:614416
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Plagiocephaly, Short philtrum, High palate, Everted lower lip vermilion, Microcephaly, Tented upp... OMIM:616579
Optic Atrophy 1
Pallor OMIM:165500
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Microphthalmia, Ankyloblepharon OMIM:123570
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Short philtrum, Tooth malposition, High palate, Everted lower lip vermilion, Furro... ORPHA:1387
German Syndrome
Brachycephaly, Orofacial cleft, High palate, Everted lower lip vermilion, Synophrys, Abnormal eye... ORPHA:2077
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia ORPHA:48
Congenital Disorder Of Glycosylation, Type Iq
Brachycephaly, Microphthalmia, Coloboma, Dry skin, Cutis laxa OMIM:612379
Momo Syndrome
Brachycephaly, Bilateral microphthalmos, Thick lower lip vermilion, Delayed eruption of teeth, Hi... ORPHA:2563
Intellectual Developmental Disorder, X-Linked 1
Secondary microcephaly, Brachycephaly OMIM:309530
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Primary microcephaly OMIM:615771
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A... ORPHA:251380
X-Linked Intellectual Disability, Sutherland-Haan Type
Microcephaly, Upslanted palpebral fissure, Brachycephaly, Anal atresia ORPHA:93950
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Widely spaced teeth, Microdontia, Microcephaly, Ptosis, Hypoplasia of teeth, Clef... ORPHA:2728
Catel-Manzke Syndrome
Highly arched eyebrow, Cleft palate, Glossoptosis, Oral synechia ORPHA:1388
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation of the large intestin... OMIM:300635
Congenital Toxoplasmosis
Hydrocephalus, Microphthalmia, Intrauterine growth retardation, Microcephaly ORPHA:858
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thick lower lip vermilion, High palate, Short upper lip, Hypoplastic philtrum, Microcephaly, Ptos... OMIM:309580
Coffin-Siris Syndrome 6
Plagiocephaly, High, narrow palate, Short philtrum, Frontal bossing, Downslanted palpebral fissur... OMIM:617808
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Thin vermilion border, Turricephaly, Hydrocephalus, Umbilical hernia, Long philtru... ORPHA:171839
Orofaciodigital Syndrome Xix
Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Narrow mouth, Micro... OMIM:620107
Linear Skin Defects With Multiple Congenital Anomalies 2
Microcephaly, Long philtrum, Microphthalmia, Highly arched eyebrow OMIM:300887
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Duodenal stenosis, Anophthalmia ORPHA:2470
Al Kaissi Syndrome
Brachycephaly, Long philtrum, High, narrow palate, Telecanthus, Synophrys, Microcephaly, Downslan... OMIM:617694
Congenital Disorder Of Glycosylation, Type Iiy
Microcephaly, Brachycephaly OMIM:620200
Fanconi Anemia, Complementation Group G
Microcephaly, Microphthalmia OMIM:614082
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Short palpebral fissure, Turricephaly, Short philtrum, High palate, Long palpebral... OMIM:613174
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Short philtrum, Prominent occiput, Downturned corners of mouth, Dol... OMIM:618672
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Achondrogenesis, Type Ia
Turricephaly, Protruding tongue OMIM:200600
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Furrowed tongue, Microce... ORPHA:564
Budd-Chiari Syndrome
Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint... ORPHA:131
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Sp... OMIM:618534
Intellectual Developmental Disorder, Autosomal Dominant 67
Posterior plagiocephaly, Thick vermilion border, Telecanthus OMIM:619927
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo... ORPHA:263665
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Microphthalmia, Solitary median maxillary central incisor, Tooth malp... ORPHA:2712
Muenke Syndrome
Brachycephaly, Plagiocephaly, Cloverleaf skull, High palate, Coronal craniosynostosis, Ptosis, Do... OMIM:602849
Lessel-Kreienkamp Syndrome
Plagiocephaly, Frontal bossing, Epicanthus, Open mouth, Dental malocclusion, Upslanted palpebral ... OMIM:619149
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly OMIM:620010
Craniofrontonasal Dysplasia
Brachycephaly, Plagiocephaly, Orofacial cleft, High palate, Abnormality of the dentition, Microce... ORPHA:1520
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly, Dysphagia ORPHA:77260
Peroxisomal Acyl-Coa Oxidase Deficiency
Brachycephaly, Frontal bossing, Epicanthus OMIM:264470
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Tooth malposition, Anophthalmia, Bifid uvula, Cleft palate, Failure of eruption o... ORPHA:2250
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Bilateral ptosis, Thin vermilion border, Highly arched eyebrow, Synophrys, Microce... OMIM:614701
Developmental And Epileptic Encephalopathy 1
Microcephaly, Plagiocephaly, Microphthalmia OMIM:308350
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Short philtrum, Hydrocephalus, Frontal bossing, Wide mouth, Intrauterine growth r... ORPHA:163966
Microphthalmia, Syndromic 11
Cleft upper lip, Microphthalmia, Cleft palate OMIM:614402
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegaly ORPHA:75233
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Plagiocephaly, Exaggerated cupid's bow, Narrow mouth, Everted lower lip vermilion, Microcephaly, ... OMIM:619720
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Microphthalmia, Retinal coloboma OMIM:601794
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Tooth malposition, High palate, Microcephaly, Cleft palate OMIM:618603
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachycephaly, Abnormal palate morphology, Turricephaly, Hydrocephalus, Frontal bossing, Ptosis ORPHA:93262
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly ORPHA:35099
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Developmental And Epileptic Encephalopathy 84
Plagiocephaly, Short palpebral fissure, Thick lower lip vermilion, Synophrys, Microcephaly, Ptosi... OMIM:618792
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Malan Overgrowth Syndrome
Plagiocephaly, Optic disc hypoplasia, High palate, Narrow mouth, Frontal bossing, Downslanted pal... ORPHA:420179
Chromosome 17P13.1 Deletion Syndrome
Brachycephaly, Plagiocephaly, High, narrow palate, Turricephaly, Telecanthus, Short philtrum, Hyd... OMIM:613776
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Plagiocephaly, Aganglionic megacolon, Abnormally large globe, Short philtrum, Hydrocephalus, High... OMIM:239300
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatom... ORPHA:83469
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Brachycephaly, Telecanthus, Dental crowding, High palate, Narrow mouth, Frontal bossing, Downslan... OMIM:615539
Arthrogryposis And Ectodermal Dysplasia
Brachycephaly, Trichiasis, Orofacial cleft, Entropion, Abnormal dental enamel morphology, Oligodo... OMIM:601701
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Plagiocephaly, Short palpebral fissure, Microcephaly, Holoprosencephaly, Epicanthu... ORPHA:2163
17Q12 Microduplication Syndrome
Microphthalmia, Cleft palate, Tracheoesophageal fistula, Synophrys ORPHA:261272
3P25.3 Microdeletion Syndrome
Brachycephaly, Microphthalmia, High, narrow palate, Short philtrum, Pyloric stenosis, Downslanted... ORPHA:435638
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools OMIM:619868
Trichothiodystrophy 3, Photosensitive
Ectropion, Microphthalmia, Meckel diverticulum, Trigonocephaly, Eclabion, Carious teeth, Pyloric ... OMIM:616395
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa... OMIM:618935
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Plagiocephaly, Orofacial cleft, Microcephaly, Intestinal malrotation, Incomplete cleft of the upp... ORPHA:77300
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Brachycephaly, Plagiocephaly, High palate, Microcephaly, Upslanted palpebral fissure, Thin upper ... OMIM:618862
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia, Microcephaly, Intrauterine growth retardation, Pallor OMIM:609053
14Q22Q23 Microdeletion Syndrome
Brachycephaly, Anophthalmia, Ptosis, Downslanted palpebral fissures, Optic nerve aplasia, Downtur... ORPHA:264200
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Momo Syndrome
Brachycephaly, Thick lower lip vermilion, Delayed eruption of teeth, High palate, Retinal colobom... OMIM:157980
Robin Sequence-Oligodactyly Syndrome
Cleft palate, Glossoptosis, Abnormality of the dentition ORPHA:3104
Cyclic Vomiting Syndrome
Microcephaly, Pallor OMIM:500007
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Microcephaly, Dental crowding, Brachycephaly ORPHA:320385
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia OMIM:609054
2Q23.1 Microdeletion Syndrome
Brachycephaly, Highly arched eyebrow, Everted lower lip vermilion, Synophrys, Microcephaly, Tente... ORPHA:228402
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Brachycephaly, Microcephaly, Wide mouth, Smooth philtrum, Intrauterine growth retardation, Thin u... OMIM:615419
Curry-Jones Syndrome
Microphthalmia, Anal stenosis, Unicoronal synostosis, Intestinal pseudo-obstruction, Bicoronal sy... OMIM:601707
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst... ORPHA:1414
Deafness-Craniofacial Syndrome
Abnormal palate morphology, Short philtrum, Short lingual frenulum, Abnormality of the dentition,... ORPHA:3241
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Treacher-Collins Syndrome
Microphthalmia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth, Encephalocel... ORPHA:861
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia, Coloboma OMIM:615665
Immunodeficiency 27A
Anemia, Lymphadenopathy, Thrombocytosis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Myoclonic-Astatic Epilepsy
Microphthalmia, Thick lower lip vermilion, Premature skin wrinkling, Microcephaly, Wide mouth, Br... ORPHA:1942
Fraser Syndrome
Orofacial cleft, Microphthalmia, Anal stenosis, Encephalocele, Anophthalmia, Dental crowding, Ect... ORPHA:2052
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Brachycephaly, Broad eyebrow, Short philtrum, Highly arched eyebrow, High palate, Dry skin, Micro... OMIM:619244
Chromosome 2P16.1-P15 Deletion Syndrome
Brachycephaly, Short palpebral fissure, Long philtrum, High, narrow palate, Telecanthus, Optic ne... OMIM:612513
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Brachycephaly, Long philtrum, Flat occiput, Highly arched eyebrow, High palate, Long eyelashes, M... OMIM:617452
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Microphthalmia, Syndromic 2
Microphthalmia, Microcephaly, Bifid uvula, Umbilical hernia, Long philtrum, Phthisis bulbi, Later... OMIM:300166
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Cdags Syndrome
Brachycephaly, Ectropion, Rectourethral fistula, Lambdoidal craniosynostosis, Rectovaginal fistul... OMIM:603116
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Highly arched eyebrow, Synophrys, Microcephaly, Long palpebral fissure, Open mouth... OMIM:617751
Jacobsen Syndrome
U-Shaped upper lip vermilion, Microphthalmia, Flat occiput, Iris coloboma, Telecanthus, Hydroceph... OMIM:147791
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia OMIM:618086
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Remnants of the hyaloid vascular system, Chorioretinal colo... ORPHA:231736
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Noonan Syndrome 13
Plagiocephaly, Widely spaced teeth, Broad eyebrow, Highly arched eyebrow, High palate, Dry skin, ... OMIM:619087
Acrofrontofacionasal Dysostosis 1
Brachycephaly, S-shaped palpebral fissures, Microphthalmia, Oligodontia, Long eyebrows, Long eyel... OMIM:201180
Trisomy 20P
Highly arched eyebrow, Everted lower lip vermilion, Microdontia, Umbilical hernia, Short philtrum... ORPHA:261318
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Open mouth, Protruding tongue ORPHA:258
Leishmaniasis
Pallor, Skin ulcer, Abnormal oral mucosa morphology, Abnormal oral cavity morphology ORPHA:507
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Short palpebral fissure, Microphthalmia, Long philtrum, Telecanthus, Oligodontia, Exaggerated cup... OMIM:608670
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bilateral cleft palate, High palate, Unilateral microphthalmos, Ankyloglossia, Microcephaly, Spar... OMIM:618874
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcephaly, Pallor, High palate, Distichiasis OMIM:600462
Blomstrand Lethal Chondrodysplasia
Long philtrum, Natal tooth, Telecanthus, Protruding tongue ORPHA:50945
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Microcephaly, Dental crowding, Brachycephaly OMIM:615031
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A... ORPHA:2133
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Frontal bossing, Microphthalmia, Duodenal stenosis ORPHA:2547
Muenke Syndrome
Brachycephaly, Plagiocephaly, High, narrow palate, Hydrocephalus, Coronal craniosynostosis, Ptosis ORPHA:53271
Houge-Janssens Syndrome 3
Plagiocephaly, Short philtrum, High palate, Microcephaly, Frontal bossing, Epicanthus, Umbilical ... OMIM:618354
Oculopalatocerebral Syndrome
Microcephaly, Microphthalmia, Cleft palate, Remnants of the hyaloid vascular system OMIM:257910
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Broad eyebrow, Frontal bossing, Ptosis, Chorioretinal coloboma, Epicanthus, Intra... ORPHA:494344
Microphthalmia, Syndromic 3
Microphthalmia, Esophageal atresia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microcephaly,... OMIM:206900
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis, Brachycephaly OMIM:612247
Microgastria-Limb Reduction Defect Syndrome
Plagiocephaly, Microphthalmia, Esophageal atresia, Rectovaginal fistula, Anophthalmia, Microgastr... ORPHA:2538
Acrofrontofacionasal Dysostosis
Brachycephaly, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Ptos... ORPHA:1784
Craniosynostosis 2
Brachycephaly, Supernumerary tooth, Turricephaly, Unicoronal synostosis, Cleft soft palate, Bicor... OMIM:604757
Marden-Walker Syndrome
Long philtrum, Microphthalmia, High, narrow palate, High palate, Narrow mouth, Microcephaly, Ptos... OMIM:248700
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachycephaly, Long philtrum, Biparietal narrowing, Microcephaly, Frontal bossing, Thick eyebrow,... ORPHA:1292
Cockayne Syndrome Type 1
Hypoplasia of the primary teeth, Anophthalmia, Abnormality of the dentition, Enamel hypoplasia, C... ORPHA:90321
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Esophageal atresia, Cleft soft palate, Downslanted palpebral fissures, Smooth phi... OMIM:614526
Cohen Syndrome
Microphthalmia, High, narrow palate, Short philtrum, Abnormal eyelid morphology, Abnormal eyelash... ORPHA:193
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Teebi-Shaltout Syndrome
Microphthalmia, Turricephaly, High, narrow palate, Telecanthus, Highly arched eyebrow, Oligodonti... OMIM:272950
Congenital Muscular Dystrophy, Fukuyama Type
Brachycephaly, Plagiocephaly, Hydrocephalus, Dolichocephaly, Intrauterine growth retardation ORPHA:272
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph... OMIM:616100
Auriculocondylar Syndrome 4
Narrow mouth, Cleft palate, Glossoptosis OMIM:620457
Microphthalmia/Coloboma 9
Macular coloboma, Microphthalmia, Ptosis, Long philtrum, Narrow palpebral fissure, Iris coloboma OMIM:615145
Dubin-Johnson Syndrome
Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit... ORPHA:234
Acrofrontofacionasal Dysostosis 2
Brachycephaly, Redundant neck skin, High palate, Microcephaly, Ptosis, Downslanted palpebral fiss... OMIM:239710
Chromosome 6Pter-P24 Deletion Syndrome
Brachycephaly, Short palpebral fissure, Telecanthus, Hydrocephalus, Dental crowding, High palate,... OMIM:612582
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Warburg Micro Syndrome 4
Secondary microcephaly, Brachycephaly, Microphthalmia, Narrow mouth, Ptosis, Long philtrum OMIM:615663
Harderoporphyria
Increased fecal harderoporphyrin, Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Spl... OMIM:618892
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h... OMIM:263300
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism OMIM:602390
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Plagiocephaly, Medial flaring of the eyebrow, Hydrocephalus, Exaggerated cupid's bow, High palate... OMIM:619833
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Coloboma, Microce... ORPHA:370959
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Brachycephaly, Widely spaced teeth, Hydrocephalus, Trigonocephaly, Downslanted palpebral fissures... ORPHA:459061
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Frontal bossing, Microphthalmia, Intrauterine growth retardation OMIM:300863
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Telecanthus, Highly arched eyebrow, High palate, Microcephaly, Ptosis, Epicanthus... OMIM:110100
Intellectual Developmental Disorder, Autosomal Dominant 64
Plagiocephaly, Short philtrum, High palate, Synophrys, Microcephaly, Epicanthus, Smooth philtrum,... OMIM:619188
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Ménétrier Disease
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc... ORPHA:2494
Desanto-Shinawi Syndrome
Brachycephaly, Synophrys, Downturned corners of mouth, Thick eyebrow, Thin upper lip vermilion OMIM:616708
Inverted Duplicated Chromosome 15 Syndrome
Brachycephaly, Short philtrum, High palate, Synophrys, Microcephaly, Downslanted palpebral fissur... ORPHA:3306
Cortical Dysplasia, Complex, With Other Brain Malformations 13
Microcephaly, Plagiocephaly, Downslanted palpebral fissures OMIM:614563
Pentasomy X
Microcephaly, Plagiocephaly, Upslanted palpebral fissure ORPHA:11
Distal Deletion 3P
Brachycephaly, Long philtrum, Thin vermilion border, Telecanthus, High palate, Microcephaly, Ptos... ORPHA:1620
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Brachycephaly, Long philtrum, Flat occiput, Highly arched eyebrow, High palate, Long eyelashes, M... ORPHA:505237
Myasthenic Syndrome, Congenital, 10
Ptosis, Tongue atrophy OMIM:254300
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Short philtrum, High palate, Everted lower lip vermilion, Furrowed tongue, Microc... OMIM:616449
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Microcephaly, Cleft palate, Epicanthus, Umbilical hernia, Long philtrum ORPHA:2505
Orofaciodigital Syndrome V
Aganglionic megacolon, High palate, Ankyloglossia, Microcephaly, Frontal bossing, Downslanted pal... OMIM:174300
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Brachycephaly, Highly arched eyebrow, High palate, Microcephaly, Intrauterine growth retardation,... OMIM:618142
Fg Syndrome Type 1
Plagiocephaly, Prominent occiput, Hydrocephalus, Optic nerve hypoplasia, Dental crowding, High pa... ORPHA:93932
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Brachycephaly, Abnormal palate morphology, Microphthalmia, Telecanthus, Microcephaly, Frontal bos... ORPHA:1236
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly, Absent extraocular muscles, Telecanthus, Hydrocephalus, Rieger anomaly OMIM:109120
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Ritscher-Schinzel Syndrome 1
Brachycephaly, Prominent occiput, Hydrocephalus, Coloboma, Anal atresia, Downslanted palpebral fi... OMIM:220210
Osteopathia Striata-Cranial Sclerosis Syndrome
Brachycephaly, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Submucous cl... ORPHA:2780
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Joubert Syndrome 37
Frontal bossing, Microphthalmia, High palate, Ptosis OMIM:619185
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Hypomandibular Faciocranial Dysostosis
Brachycephaly, Narrow mouth, Trigonocephaly, Downslanted palpebral fissures, Bifid uvula, Cleft p... ORPHA:1790
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis, Furrowed tongue ORPHA:2743
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Highly arched eyebrow, Microdontia, Long philtrum, Primary microcephaly, Nasolacrimal duct obstru... OMIM:610759
Crouzon Syndrome
Brachycephaly, Lambdoidal craniosynostosis, Hydrocephalus, Dental crowding, High palate, Shallow ... OMIM:123500
Kury-Isidor Syndrome
Brachycephaly, Widely spaced teeth, Triangular mouth, High palate, Frontal bossing, Downslanted p... OMIM:619762
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Cerebrooculofacioskeletal Syndrome 1
Thin vermilion border, Microphthalmia, Delayed eruption of teeth, Microcephaly, Carious teeth, Lo... OMIM:214150
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microcephaly, Microphthalmia OMIM:251270
Osteogenesis Imperfecta, Type Xx
Brachycephaly, Plagiocephaly, Narrow palate, Highly arched eyebrow, High palate, Microcephaly, Sp... OMIM:618644
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Microphthalmia, Short palpebral fissure, Narrow mouth, Microcephaly, Cleft p... OMIM:251230
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Bone marrow hypocellularity, ... ORPHA:381
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Spina bifida occulta, Iris coloboma OMIM:169550
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Rhizomelic Limb Shortening With Dysmorphic Features
Long philtrum, Plagiocephaly, Downslanted palpebral fissures, Smooth philtrum OMIM:618821
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Microcephaly, Ptosis, Unilateral cleft lip, Flat occiput ORPHA:2511
Williams-Beuren Region Duplication Syndrome
Brachycephaly, Short philtrum, Hydrocephalus, High palate, Long eyelashes, Horizontal eyebrow, Di... OMIM:609757
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi... OMIM:612714
Trisomy 18
Narrow palate, Microphthalmia, Cyclopia, Anencephaly, Esophageal atresia, Prominent occiput, Non-... ORPHA:3380
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Steatorrhea, S... OMIM:607765
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Brachycephaly OMIM:300699
Warburg Micro Syndrome 3
Brachycephaly, Secondary microcephaly, Microphthalmia, Narrow palate, Microcephaly, Downturned co... OMIM:614222
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Lig4 Syndrome
Brachycephaly, Thin vermilion border, Telecanthus, Biparietal narrowing, Microcephaly, Epicanthus... ORPHA:99812
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Developmental And Epileptic Encephalopathy 110
Posterior plagiocephaly, High palate, Microcephaly, Ptosis, Tented upper lip vermilion OMIM:620149
8Q21.11 Microdeletion Syndrome
Microphthalmia, Short philtrum, Exaggerated cupid's bow, High palate, Abnormality of the dentitio... ORPHA:284160
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Anal atresia, Microcephaly, Intrauterine growth retardation, Upslanted palpebral ... ORPHA:1352
Myopathic Ehlers-Danlos Syndrome
High, narrow palate, Pallor ORPHA:536516
Even-Plus Syndrome
Brachycephaly, Highly arched eyebrow, High palate, Anal atresia, Synophrys, Hypodontia OMIM:616854
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Plagiocephaly, Aganglionic megacolon, Anal stenosis, Anal atresia, Microcephaly, Long palpebral f... OMIM:614749
Temtamy Preaxial Brachydactyly Syndrome
Plagiocephaly, Highly arched eyebrow, Talon cusp, Microdontia, Synophrys, Cleft palate, Diastema,... OMIM:605282
Houge-Janssens Syndrome 2
Plagiocephaly, Hydrocephalus, Microcephaly, Downslanted palpebral fissures, Tented upper lip verm... OMIM:616362
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Thin vermilion border, Turricephaly, High palate, Downslanted palpebral fissures, ... OMIM:601853
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Branchioskeletogenital Syndrome
Highly arched eyebrow, Microcephaly, Bifid uvula, Blepharochalasis, Umbilical hernia, Craniosynos... ORPHA:1299
Burning Mouth Syndrome
Smooth tongue, Tongue pain, Abnormality of taste sensation, Parageusia, Strawberry tongue, Abnorm... ORPHA:353253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Hydrocephalus, Progressive microcephaly, Coloboma, Microc... OMIM:615249
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Spondylo-Ocular Syndrome
Thin vermilion border, Microphthalmia, Aplasia/Hypoplasia of the lens, Abnormal eyebrow morpholog... ORPHA:85194
Cronkhite-Canada Syndrome
Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo... ORPHA:2930
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Brachycephaly, Progressive microcephaly, Microcephaly, Tented upper lip vermilion, Smooth philtrum OMIM:620240
Charge Syndrome
Aqueductal stenosis, Microphthalmia, Anophthalmia, Highly arched eyebrow, Delayed eruption of tee... ORPHA:138
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Brachycephaly, Plagiocephaly, Frontal bossing, Downturned corners of mouth, Tented upper lip verm... OMIM:618430
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Summitt Syndrome
Plagiocephaly, Epicanthus, Craniosynostosis ORPHA:3210
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation... OMIM:602347
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pallor ORPHA:163596
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
1Q21.1 Microdeletion Syndrome
Long philtrum, Microphthalmia, Hydrocephalus, High palate, Ankyloglossia, Microcephaly, Frontal b... ORPHA:250989
Craniofacial Dyssynostosis With Short Stature
Brachycephaly, Hydrocephalus, Brachyturricephaly, Pyloric stenosis, Frontal bossing, Abnormal sha... OMIM:218350
Bilateral Perisylvian Polymicrogyria
Intrauterine growth retardation, Microcephaly, Protruding tongue ORPHA:98889
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Iron def... OMIM:603909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Optic nerve hypoplasia, Microphthalmia OMIM:615181
Fibular Hemimelia
Craniosynostosis, Anophthalmia, Spina bifida ORPHA:93323
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin vermilion border, Microphthalmia, Severe intrauterine growth retardation, Microcephaly, Fron... OMIM:241410
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Turricephaly, Cleft palate, Intrauterine growth retardation, Craniosynostosis ORPHA:2145
2Q31.1 Microdeletion Syndrome
Short palpebral fissure, Microphthalmia, Thin vermilion border, Coloboma, Everted lower lip vermi... ORPHA:251014
Retinitis Pigmentosa 51
Pallor OMIM:613464
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus, Anal atresia, Microcephaly, Agenesis of permanent teeth OMIM:617244
Curry-Jones Syndrome
Microphthalmia, Intestinal malrotation, Optic disc coloboma, Craniosynostosis, Iris coloboma ORPHA:1553
Adams-Oliver Syndrome 2
Hydrocephalus, Narrow palpebral fissure, Microphthalmia, Microcephaly OMIM:614219
Pelvis-Shoulder Dysplasia
Short palpebral fissure, Bilateral microphthalmos, Hydranencephaly, Hydrocephalus, Thick anterior... ORPHA:2839
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Plagiocephaly, Highly arched eyebrow, Abnormal size of the palpebral fissures, Microcephaly, Open... ORPHA:500159
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Oligozoospermia ORPHA:3000
Joubert Syndrome 21
Occipital encephalocele, Ptosis, Encephalocele, Anophthalmia OMIM:615636
9P13 Microdeletion Syndrome
Brachycephaly, Highly arched eyebrow, High palate, Dry skin, Thick eyebrow, Epicanthus, Umbilical... ORPHA:324313
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor... ORPHA:100026
Irida Syndrome
Pallor, Abnormal intestine morphology ORPHA:209981
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microc... ORPHA:848
Gorlin-Chaudhry-Moss Syndrome
Brachycephaly, Upper eyelid coloboma, Abnormal eyelid morphology, Oligodontia, Abnormality of the... ORPHA:2095
Heart And Brain Malformation Syndrome
Microphthalmia, Thick lower lip vermilion, High, narrow palate, Prominent occiput, Everted lower ... OMIM:616920
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Microphthalmia With Limb Anomalies
Thin vermilion border, Microphthalmia, True anophthalmia, Hydrocephalus, High palate, Frontal bos... ORPHA:1106
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly OMIM:235555
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Acromelic Frontonasal Dysplasia
Brachycephaly, Telecanthus, Encephalocele, Meningocele, Median cleft palate, Ptosis, Wide mouth, ... ORPHA:1827
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, High, narrow palate, Cleft palate, Epicanthus, Open mouth, Long philtrum, Anterio... OMIM:618494
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Glossoptosis, Biparietal narrowing, Ptosis, Chorioretinal coloboma, Blepharophimosis ORPHA:2031
Pseudotrisomy 13 Syndrome
Microphthalmia, Cyclopia, Encephalocele, Hydrocephalus, Anal atresia, Median cleft palate, Microc... OMIM:264480
19P13.13 Microdeletion Syndrome
Brachycephaly, Optic nerve hypoplasia, High palate, Narrow mouth, Long eyelashes, Downslanted pal... ORPHA:357001
Kleefstra Syndrome Due To A Point Mutation
Brachycephaly, Plagiocephaly, Thick lower lip vermilion, Abnormality of the dentition, Anal atres... ORPHA:261652
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Microphthalmia, Coloboma OMIM:613153
Hallermann-Streiff Syndrome
Brachycephaly, Supernumerary tooth, Microphthalmia, High, narrow palate, Telecanthus, Glossoptosi... ORPHA:2108
Monosomy 9P
Brachycephaly, Microphthalmia, Highly arched eyebrow, High palate, Abnormality of the dentition, ... ORPHA:261112
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:48431
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Brachycephaly, Microcephaly, Cleft upper lip, Bifid uvula, Cleft palate OMIM:300958
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin, Microphthalmia, High palate, Sparse eyelashes, Frontal bossing, Downslanted palpebr... ORPHA:35173
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Microdontia, Epicanthus ORPHA:3191
Recombinant Chromosome 8 Syndrome
Secondary microcephaly, Brachycephaly, Thick lower lip vermilion, Gingival overgrowth, Abnormalit... OMIM:179613
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnor... ORPHA:54251
Cousin Syndrome
Short palpebral fissure, Microphthalmia, Hydranencephaly, Hydrocephalus, Frontal bossing, Cleft p... OMIM:260660
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat... ORPHA:158057
Acrodermatitis Enteropathica
Cheilitis, Skin ulcer, Glossitis, Abnormal eyelid morphology, Dry skin, Furrowed tongue, Blephari... ORPHA:37
Beck-Fahrner Syndrome
Brachycephaly, High palate, Microcephaly, Ptosis, Open mouth, Long philtrum, Lacrimal duct stenosis OMIM:618798
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly, Gastroesophageal reflux ORPHA:2414
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Robinow-Sorauf Syndrome
Plagiocephaly, Bilateral ptosis, Shallow orbits, Downslanted palpebral fissures, Pansynostosis, C... OMIM:180750
Evans Syndrome
Petechiae, Pallor ORPHA:1959
20Q11.2 Microduplication Syndrome
Brachycephaly, Tented philtrum, Palpebral edema, Gingival overgrowth, Severe intrauterine growth ... ORPHA:363659
Gracile Bone Dysplasia
Hydrocephalus, Microphthalmia, Aniridia, Ankyloglossia OMIM:602361
Microphthalmia, Syndromic 6
Brachycephaly, Plagiocephaly, Microphthalmia, Lambdoidal craniosynostosis, Anophthalmia, Orbital ... OMIM:607932
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Linear Nevus Sebaceus Syndrome
Plagiocephaly, Microphthalmia, Telecanthus, Prominent occiput, Biparietal narrowing, Frontal boss... ORPHA:2612
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Bilateral microphthalmos, Blepharophimosis, Anophthalmia OMIM:601186
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Downslanted palpebral fissures, Pierre-Robin sequence, Submucous cleft... OMIM:192445
Moebius Syndrome
Microphthalmia, High palate, Abnormality of the dentition, Bifid uvula, Epicanthus, Congenital fi... OMIM:157900
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hemophagocytosis, Decr... OMIM:619802
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, Long philtrum, Telecanthus, High palate, Thick eyebrow, Tented upper lip vermilion... OMIM:619383
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Plagiocephaly, Microcephaly, Ptosis, Intestinal malrotation, Cleft palate, Downturned corners of ... ORPHA:457193
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Plagiocephaly, Short philtrum, Microcephaly, Frontal bossing, Downslanted palpebral fissures, Ten... ORPHA:371364
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Unicoronal synostosis, Encephalocele, Anal atresia, Incomplete cleft of the upper... OMIM:616300
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Band Heterotopia
Hydrocephalus, Plagiocephaly OMIM:600348
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Optic nerve hypoplasia, Microphthalmia, Narrow mouth OMIM:614833
Laurence-Moon Syndrome
Brachycephaly, Epicanthus, Iris coloboma ORPHA:2377
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Microcephaly, Plagiocephaly, Narrow palate OMIM:617481
2P15P16.1 Microdeletion Syndrome
Brachycephaly, Long philtrum, Telecanthus, Optic nerve hypoplasia, High palate, Everted lower lip... ORPHA:261349
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, High palate, Everted lower lip vermilion, Frontal bossing, Dolichocephaly, Holopr... OMIM:613884
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten... ORPHA:379
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly, Abnormally large globe, Progressive microcephaly, Optic nerve hypoplasia, High pal... OMIM:300749
Atelis Syndrome 2
Short palpebral fissure, Microphthalmia, Thick lower lip vermilion, High palate, Remnants of the ... OMIM:620185
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Congenital Rubella Syndrome
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Microcephaly ORPHA:290
Trisomy 9P
Brachycephaly, Dental crowding, Non-midline cleft of the upper lip, Microcephaly, Downslanted pal... ORPHA:236
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Retinal coloboma ORPHA:363741
Adams-Oliver Syndrome 6
Hepatic fibrosis, Esophageal varix, Splenomegaly, Portal hypertension OMIM:616589
Orofaciodigital Syndrome I
Myelomeningocele, Microcephaly, Tongue nodules, Alveolar ridge overgrowth, Hydrocephalus, Frontal... OMIM:311200
Trisomy 8Q
Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, My... ORPHA:1752
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly, Short palpebral fissure, Microcephaly, Downturned corners of mouth, Epicanthus, Su... OMIM:619680
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Bile du... OMIM:613812
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Hypoplasia of the frontal bone, Sparse eyelashes, Ptosis, Sparse eyebrow, Cleft p... ORPHA:306542
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Abnormal dental enamel morphology, Abnormal eyelid m... ORPHA:2556
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Ascites, Splenomegaly, Cardiomega... OMIM:235200
Hartnup Disorder
Glossitis OMIM:234500
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Microphthalmia, Short philtrum, Exaggerated cupid's bow, High palate, Pt... OMIM:614230
Hereditary Folate Malabsorption
Glossitis, Pallor, Cheilitis ORPHA:90045
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Microcephaly, Brachycephaly OMIM:309541
Incontinentia Pigmenti
Microphthalmia, Conical tooth, Delayed eruption of teeth, Oligodontia, Microcephaly, Hypoplasia o... OMIM:308300
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Secondary microcephaly, Pallor OMIM:613839
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Plagiocephaly, Turricephaly, Aganglionic megacolon, Short philtrum, Hydrocephalus, Microcephaly, ... OMIM:613603
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Periportal fibrosis, Bone-marrow foam cells, Esopha... OMIM:278000
Autism, Susceptibility To, X-Linked 2
Plagiocephaly OMIM:300495
Monosomy 9Q22.3
Orofacial cleft, Microphthalmia, Delayed eruption of teeth, Hydrocephalus, Odontogenic keratocyst... ORPHA:77301
Hemimegalencephaly
Cranial asymmetry ORPHA:99802
Grant Syndrome
Brachycephaly, Frontal bossing, Open bite, Abnormal palate morphology ORPHA:2097
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Secondary microcephaly, Microphthalmia OMIM:613730
Aica-Ribosiduria
Brachycephaly, Wide mouth, Thin upper lip vermilion ORPHA:250977
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Paternal Uniparental Disomy Of Chromosome 5
Posterior plagiocephaly, Abnormally large globe ORPHA:96190
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Hepatomegaly, Cholelithiasis, Reduced red cell pyruvate kinas... OMIM:266200
Au-Kline Syndrome
Plagiocephaly, Dental malocclusion, Oligodontia, Lipomyelomeningocele, High palate, Shallow orbit... OMIM:616580
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Decreased proportion of me... OMIM:618394
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Encephalocele, Hydrocephalus, Microcephaly, Cleft upper lip, Cleft palate, Buphth... OMIM:613150
Ohdo Syndrome, X-Linked
Thin vermilion border, Microphthalmia, Widely spaced teeth, High palate, Narrow mouth, Microdonti... OMIM:300895
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome
Plagiocephaly ORPHA:459074
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho... ORPHA:2357
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Brachycephaly, Plagiocephaly, Abnormal palate morphology, Parietal foramina, Absent eyelashes, Ab... ORPHA:85199
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Branchiooculofacial Syndrome
Microphthalmia, Iris coloboma, Telecanthus, Anophthalmia, Branchial anomaly, Abnormality of the d... OMIM:113620
Dravet Syndrome
Pallor ORPHA:33069
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Hydrocephalus, Delayed eruption of ... OMIM:305600
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short philtrum, Downturned corners of mouth, Lobulated tongue, Upslanted palpebral fissure, Thin ... OMIM:613443
Cat Eye Syndrome
Microphthalmia, Rectal fistula, Anal stenosis, Meckel diverticulum, Anal atresia, Intestinal malr... OMIM:115470
Nance-Horan Syndrome
Supernumerary tooth, Microphthalmia, Abnormality of the dentition ORPHA:627
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Microphthalmia, Microcephaly OMIM:610756
Intellectual Disability-Strabismus Syndrome
Plagiocephaly, Telecanthus, Highly arched eyebrow, High palate, Abnormality of the dentition, Syn... ORPHA:363528
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Coloboma, Frontal bossing, Microphthalmia, Shallow orbits OMIM:617306
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Microcephaly, Sparse eyelashes, Hypoplasia of teeth, Epicanthus, Keratoconjunctiv... OMIM:234050
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Martsolf Syndrome 1
Brachycephaly, Microphthalmia, Short philtrum, Tooth malposition, High palate, Microcephaly, Down... OMIM:212720
Joubert Syndrome 2
Microphthalmia, Encephalocele, Hydrocephalus, High palate, Frontal bossing, Dolichocephaly, Chori... OMIM:608091
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ptosis, Pallor ORPHA:13
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Microphthalmia, Cyclopia, Encephalocele, Hydrocephalus, Narrow mouth, Anal atres... ORPHA:2166
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Plagiocephaly, Branchial anomaly, Coloboma, Oligodontia, High palate, Furrowed tongue, Shallow or... ORPHA:453499
Pde4D Haploinsufficiency Syndrome
Brachycephaly, Narrow palpebral fissure, Long philtrum, Short philtrum, Abnormal dental enamel mo... ORPHA:439822
Hyperphosphatasia-Intellectual Disability Syndrome
Brachycephaly, Plagiocephaly, Aganglionic megacolon, Short philtrum, Highly arched eyebrow, Abnor... ORPHA:247262
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr... OMIM:300048
Joubert Syndrome 18
Intrauterine growth retardation, Occipital encephalocele, Cleft palate, Lobulated tongue OMIM:614815
Microphthalmia, Lenz Type
Orofacial cleft, Microphthalmia, Iris coloboma, Delayed eruption of teeth, Abnormality of the den... ORPHA:568
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Brachycephaly, High palate, Narrow mouth, Microcephaly, Downslanted palpebral fissures, Epicanthu... ORPHA:562528
Osteoporosis-Pseudoglioma Syndrome
Frontal bossing, Microphthalmia ORPHA:2788
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Brachycephaly, Plagiocephaly, Microcephaly, Frontal bossing, Dolichocephaly, Long philtrum OMIM:619721
Prune1-Related Neurological Syndrome
Microcephaly, Plagiocephaly, Tongue fasciculations ORPHA:544469
Intellectual Developmental Disorder, Autosomal Dominant 29
Brachycephaly, Short palpebral fissure, Narrow palate, Dental crowding, High palate, Narrow mouth... OMIM:616078
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Skin ulcer, Abnormality of the dentition, Keratoconjunctivitis sicca ORPHA:1806
Auriculocondylar Syndrome 3
Ectropion, Bifid uvula, Glossoptosis OMIM:615706
Dubowitz Syndrome
Short palpebral fissure, Microphthalmia, Telecanthus, Delayed eruption of teeth, High palate, Hyp... OMIM:223370
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Brachycephaly, Widely spaced teeth, High palate, Narrow mouth, Microcephaly, Ptosis, Tented upper... OMIM:300260
Antley-Bixler Syndrome
Brachycephaly, Turricephaly, Narrow mouth, Frontal bossing, Downslanted palpebral fissures, Cleft... ORPHA:83
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia ORPHA:2617
Xq28 (MECP2) duplication
Microcephaly, Narrow mouth, Brachycephaly DECIPHER:45
19P13.12 Microdeletion Syndrome
Brachycephaly, Long philtrum, Thin vermilion border, Hypodontia, Synophrys, Microcephaly, Cleft p... ORPHA:254346
3Q29 Microdeletion Syndrome
Orofacial cleft, Microphthalmia, Short philtrum, Dental crowding, High palate, Everted lower lip ... ORPHA:65286
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bilateral cleft palate, Intestinal malrotation, Flat occiput, Upslanted palpebral fissure, Bifid ... ORPHA:2001
Cutis Laxa, Autosomal Recessive, Type Iiia
Brachycephaly, Narrow mouth, Cutis laxa, Frontal bossing, Umbilical hernia, Intrauterine growth r... OMIM:219150
Galloway-Mowat Syndrome 3
Microphthalmia, High palate, Narrow mouth, Microcephaly, Frontal bossing, Downslanted palpebral f... OMIM:617729
X-Linked Intellectual Disability Due To Gria3 Mutations
Brachycephaly, Narrow palate, Short philtrum, Short upper lip, Ptosis, Macrodontia of permanent m... ORPHA:364028
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Achondrogenesis, Type Ii
Brachycephaly, Abnormally large globe, Frontal bossing, Cleft palate, Long philtrum OMIM:200610
Lujan-Fryns Syndrome
Brachycephaly, Short philtrum, Dental crowding, High palate, Abnormality of the dentition ORPHA:776
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Cleft palate, Craniosynostosis OMIM:618265
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Hamamy Syndrome
Brachycephaly, Telecanthus, Hypodontia, Neck pterygia, High palate, Everted lower lip vermilion, ... OMIM:611174
Intellectual Developmental Disorder, Autosomal Recessive 38
Narrow palate, Plagiocephaly OMIM:615516
Neuroocular Syndrome
Microphthalmia, Highly arched eyebrow, Microcephaly, Umbilical hernia, Nasolacrimal duct obstruct... OMIM:619539
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Thick vermilion border, Brachycephaly, Wide mouth ORPHA:85290
Mosaic Trisomy 9
Microphthalmia, Prominent occiput, High palate, Biparietal narrowing, Spina bifida, Microcephaly,... ORPHA:99776
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Fumarase Deficiency
Conjunctival icterus, Necrotizing enterocolitis, High palate, Microcephaly, Frontal bossing, Pallor OMIM:606812
Opitz-Kaveggia Syndrome
Narrow palate, Plagiocephaly, Thick lower lip vermilion, Anal stenosis, Hydrocephalus, Dental cro... OMIM:305450
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth, Enamel hyp... OMIM:618727
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Bilateral microphthalmos ORPHA:77299
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy ORPHA:496689
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Long palpebral fissure, Ptosis, Downturned corners of mouth, Craniosy... ORPHA:531151
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Brachycephaly, Highly arched eyebrow, Ptosis, Epicanthus inversus, Upslanted palpebral fissure ORPHA:2988
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Auriculocondylar Syndrome
Difficulty in tongue movements, Mandibular condyle hypoplasia, Dental crowding, Glossoptosis, Nar... ORPHA:137888
Wieacker-Wolff Syndrome, Female-Restricted
Brachycephaly, Microcephaly, Ptosis, Downturned corners of mouth, Cleft palate, Long philtrum, U-... OMIM:301041
Gillessen-Kaesbach-Nishimura Syndrome
Brachycephaly, Telecanthus, Microcephaly, Epicanthus, Smooth philtrum OMIM:263210
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, High, narrow palate, Short philtrum, Exaggerated cupid's bow, Everted lower lip v... ORPHA:464738
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Plagiocephaly OMIM:618725
Smith-Magenis Syndrome
Brachycephaly, Short philtrum, Synophrys, Microcephaly, Frontal bossing, Cleft upper lip, Cleft p... ORPHA:819
Ritscher-Schinzel Syndrome 3
Microphthalmia, Highly arched eyebrow, Downslanted palpebral fissures, Chorioretinal coloboma, Th... OMIM:619135
Intellectual Developmental Disorder, Autosomal Dominant 1
Brachycephaly, Secondary microcephaly, Widely spaced teeth, Highly arched eyebrow, Everted lower ... OMIM:156200
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Ritscher-Schinzel Syndrome 4
Brachycephaly, Plagiocephaly, Narrow palate, Short philtrum, High palate, Downslanted palpebral f... OMIM:619435
Pseudodiastrophic Dysplasia
Brachycephaly, Frontal bossing, Smooth philtrum OMIM:264180
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia, Chorioretinal coloboma, Iris coloboma OMIM:212550
Oculodentodigital Dysplasia
Short palpebral fissure, Microphthalmia, Broad alveolar ridges, Premature loss of teeth, Selectiv... OMIM:164200
Diamond-Blackfan Anemia 1
Spina bifida occulta, Parietal foramina, High palate, Microcephaly, Cleft upper lip, Downslanted ... OMIM:105650
Dominant Beta-Thalassemia
Skin ulcer, Abnormality of the dentition, Frontal bossing, Pallor, Upslanted palpebral fissure ORPHA:231226
Basal Cell Nevus Syndrome 1
Microphthalmia, Odontogenic keratocysts of the jaw, Hydrocephalus, Orbital cyst, Hamartomatous st... OMIM:109400
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Cranial asymmetry, Microcephaly, Epicanthus, Scaphocephaly OMIM:614886
Chromosome 2Q37 Deletion Syndrome
Brachycephaly, Highly arched eyebrow, Narrow palpebral fissure, Upslanted palpebral fissure, Blep... OMIM:600430
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Hemophagocytosis, Pancytopeni... OMIM:613011
Smith-Magenis Syndrome
Brachycephaly, Orofacial cleft, Everted upper lip vermilion, Abnormality of the dentition, Synoph... OMIM:182290
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Cleft palate, Glossoptosis ORPHA:166100
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Broad eyebrow, Broad alveolar ridges, Coloboma, High palate, Furrowed tongue, Mic... OMIM:616975
Carey-Fineman-Ziter Syndrome
Thin vermilion border, Glossoptosis, High palate, Microcephaly, Ptosis, Downslanted palpebral fis... ORPHA:1358
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, B lymphocytopenia, ... OMIM:301078
Monosomy 13Q14
Microphthalmia, Trigonocephaly, Microcephaly, Ptosis, Holoprosencephaly, Epicanthus, Intrauterine... ORPHA:1587
Bartsocas-Papas Syndrome 1
Ectropion, Microphthalmia, Axillary pterygium, Popliteal pterygium, Anal stenosis, Cicatricial la... OMIM:263650
De Barsy Syndrome
Brachycephaly, Excessive wrinkled skin, Delayed eruption of teeth, Progressive microcephaly, High... ORPHA:2962
Acquired Hypertrichosis Lanuginosa
Glossitis, Abnormal eyelid morphology, Abnormal eyebrow morphology, Macroglossia ORPHA:2221
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Coloboma, Hypoplastic iris stroma, Hypoplasia of the fovea, M... ORPHA:2334
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Microphthalmia, Entropion, Microcephaly, Conjunctivitis, Keratoconjunctivitis sicca OMIM:278730
Kapur-Toriello Syndrome
Orofacial cleft, Microphthalmia, Retinal coloboma, Intestinal malrotation, Iris coloboma ORPHA:2328
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachycephaly, Thin vermilion border, Cutis laxa, Thick eyebrow, Epicanthus, Long philtrum OMIM:614800
Menkes Disease
Cutis laxa, Brachycephaly, Intrauterine growth retardation, Microcephaly OMIM:309400
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Short philtrum, Microcephaly, Intrauterine growth retardation, Blepharo... OMIM:610758
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Tetraamelia-Multiple Malformations Syndrome
Orofacial cleft, Microphthalmia, Hydrocephalus, Narrow mouth, Septo-optic dysplasia, Anal atresia... ORPHA:3301
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Cholelithiasis, Anemia of inadequate produ... ORPHA:231222
American Trypanosomiasis
Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Splenomegaly, Achalasia ORPHA:3386
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Sparse eyelashes, Cleft palate, Lower... OMIM:616367
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Protein-losing enteropathy, Abnormal fallopian tube morphology, Pancreatic lymphang... ORPHA:1655
Marshall Syndrome
Brachycephaly, Thick lower lip vermilion, High palate, Abnormality of the dentition, Sparse eyela... ORPHA:560
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma, Umbilical hernia OMIM:618914
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Persisten... OMIM:613673
Carpenter Syndrome 1
Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Telecanthus, High palate, Persi... OMIM:201000
Refsum Disease
Ptosis, Microphthalmia, Dry skin ORPHA:773
Distal Deletion 10Q
Brachycephaly, Spina bifida occulta, High palate, Anal atresia, Microcephaly, Frontal bossing, Do... ORPHA:96148
Oculo-Palato-Cerebral Syndrome
Microphthalmia, High, narrow palate, Remnants of the hyaloid vascular system, Microcephaly, Cleft... ORPHA:2714
Den Hoed-De Boer-Voisin Syndrome
Secondary microcephaly, Brachycephaly, Amelogenesis imperfecta, Widely spaced teeth, Delayed erup... OMIM:619229
Rothmund-Thomson Syndrome, Type 2
Supernumerary tooth, Microphthalmia, Delayed eruption of teeth, Absent eyelashes, High palate, Mi... OMIM:268400
Cree Mental Retardation Syndrome
Brachycephaly, Cleft soft palate, Coloboma, Ptosis, Downslanted palpebral fissures OMIM:606851
Stromme Syndrome
Microphthalmia, Duodenal atresia, Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Intestinal... OMIM:243605
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na... OMIM:602483
Cerebrofaciothoracic Dysplasia
Brachycephaly, Synophrys, Cleft upper lip, Downslanted palpebral fissures, Cleft palate, Thick ey... ORPHA:1394
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
49,Xxxxy Syndrome
Brachycephaly, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious t... ORPHA:96264
Kapur-Toriello Syndrome
Microphthalmia, Retinal coloboma, Intestinal malrotation, Cleft upper lip, Cleft palate, Intraute... OMIM:244300
Micro Syndrome
Microphthalmia, Short philtrum, High palate, Retinal coloboma, Microcephaly, Intrauterine growth ... ORPHA:2510
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Everted lower lip vermilion, Wide mouth, Umbilical hernia, Short philtrum,... OMIM:280000
Fg Syndrome 3
Pyloric stenosis, Cryptorchidism OMIM:300406
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Plagiocephaly ORPHA:521390
Galloway-Mowat Syndrome 1
Secondary microcephaly, Microphthalmia, Flat occiput, High palate, Hypoplasia of the iris, Microc... OMIM:251300
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Brachycephaly, Telecanthus, Microcephaly, Cleft palate, Unilateral cleft lip, Intrauterine growth... OMIM:616897
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Leukocytosis, Hepatosplenomegaly, Splenomegaly, T... ORPHA:457077
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Brachycephaly, Ptosis, High palate OMIM:218000
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
White-Sutton Syndrome
Brachycephaly, Thin vermilion border, Short philtrum, Optic nerve hypoplasia, High palate, Microc... OMIM:616364
Arthrogryposis, Distal, Type 5D
Highly arched eyebrow, Narrow mouth, Furrowed tongue, Ptosis, Cleft palate, Lagophthalmos, Open m... OMIM:615065
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Carey-Fineman-Ziter Syndrome 1
Plagiocephaly, Glossoptosis, High palate, Microcephaly, Ptosis, Downslanted palpebral fissures, C... OMIM:254940
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Plagiocephaly, Bilateral ptosis, Optic nerve hypoplasia, High pala... ORPHA:300570
Imerslund-Gräsbeck Syndrome
Glossitis, Pallor, Angular cheilitis ORPHA:35858
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Plagiocephaly, Abnormal palate morphology, Anal atresia, Tooth agenesis, Multiple ... ORPHA:2063
Microphthalmia/Coloboma 12
Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob... OMIM:120200
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... ORPHA:261529
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1
Plagiocephaly OMIM:607313
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Villous atrophy, Lymphadenopathy, Pancytopenia, Decreased proportion... OMIM:614700
Neurofaciodigitorenal Syndrome
Brachycephaly, Plagiocephaly, Abnormality of the philtrum, Ptosis, Downslanted palpebral fissures... ORPHA:2673
Pfeiffer Syndrome
Hydrocephalus, Cloverleaf skull, Dental crowding, High palate, Brachyturricephaly, Shallow orbits... OMIM:101600
Cleidocranial Dysplasia
Brachycephaly, Supernumerary tooth, High, narrow palate, Spina bifida occulta, Delayed eruption o... ORPHA:1452
Rodrigues Blindness
Microphthalmia, Tooth malposition OMIM:268320
Agnathia-Otocephaly Complex
Narrow mouth, Downslanted palpebral fissures, Cleft palate, Holoprosencephaly, Microglossia, Aglo... OMIM:202650
Trichohepatoneurodevelopmental Syndrome
Brachycephaly, Plagiocephaly, Ectropion, Steatorrhea, Widely spaced teeth, Dental crowding, High ... OMIM:618268
Cooper-Jabs Syndrome
Brachycephaly, Frontal bossing, Anteriorly placed anus, Umbilical hernia ORPHA:1488
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, High palate OMIM:619053
Orofaciodigital Syndrome Iv
High palate, Cleft palate, Lobulated tongue, Epicanthus, Accessory oral frenulum, Tongue nodules,... OMIM:258860
Holoprosencephaly 2
Semilobar holoprosencephaly, Microphthalmia, Cyclopia, Solitary median maxillary central incisor,... OMIM:157170
Kaufman Oculocerebrofacial Syndrome
Brachycephaly, Telecanthus, High palate, Narrow mouth, Microcephaly, Ptosis, Sparse eyebrow, Inte... OMIM:244450
Skin Creases, Congenital Symmetric Circumferential, 2
Short palpebral fissure, Microphthalmia, Narrow mouth, Microdontia, Synophrys, Microcephaly, Ptos... OMIM:616734
Congenital Disorder Of Glycosylation, Type Iit
Brachycephaly, Short philtrum, Microcephaly, Downslanted palpebral fissures, Tented upper lip ver... OMIM:618885
Chilton-Okur-Chung Neurodevelopmental Syndrome
Bilateral ptosis, Highly arched eyebrow, Septo-optic dysplasia, Microcephaly, Wide mouth, Intraut... OMIM:619841
Fanconi Anemia, Complementation Group C
Microphthalmia, Anemic pallor, Microcephaly, Epicanthus, Intrauterine growth retardation OMIM:227645
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Congenital Myopathy 13
Brachycephaly, Short palpebral fissure, Telecanthus, High palate, Microcephaly, Ptosis, Downslant... OMIM:255995
Reynolds Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Ascites, Abnormal gastric mucosa morp... ORPHA:779
Lelis Syndrome
Furrowed tongue, Sparse lateral eyebrow, Carious teeth, Hypodontia, Upslanted palpebral fissure, ... ORPHA:140936
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Coloboma, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Oculoauricular Syndrome
Microphakia, Short mandibular rami, Microphthalmia, Iris coloboma, Spina bifida occulta, Retinal ... OMIM:612109
Beta-Thalassemia Major
Skin ulcer, Abnormality of the dentition, Frontal bossing, Pallor, Upslanted palpebral fissure ORPHA:231214
Focal Dermal Hypoplasia
Microphthalmia, Duodenal atresia, Abnormal dental enamel morphology, Open bite, Abnormality of th... ORPHA:2092
Duane Retraction Syndrome
Plagiocephaly, Short palpebral fissure, Optic disc hypoplasia, Aniridia, Spina bifida occulta, Bl... ORPHA:233
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Secondary microcephaly, Plagiocephaly, Widely spaced teeth, Tongue fasciculations, Synophrys, Mic... OMIM:617193
ERI1-related disease
Brachycephaly, High palate, Trigonocephaly, Frontal bossing, Velopharyngeal insufficiency, Epican... OMIM:608739
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Scaphocephaly ORPHA:1143
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Treacher Collins Syndrome 1
Bilateral microphthalmos, Upper eyelid coloboma, Cleft soft palate, Narrow mouth, Ptosis, Downsla... OMIM:154500
Adams-Oliver Syndrome
Microphthalmia, Encephalocele, Hydrocephalus, Esophageal varix, Calvarial skull defect ORPHA:974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Coloboma, Meningo... OMIM:236670
Chime Syndrome
Brachycephaly, Supernumerary tooth, Skin ulcer, Short philtrum, Abnormality of the dentition, Mic... ORPHA:3474
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia, Iris coloboma OMIM:269400
Cranioectodermal Dysplasia 2
Everted lower lip vermilion, Microdontia, Cutis laxa, Broad philtrum, Craniosynostosis, Cloverlea... OMIM:613610
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia, Microcephaly OMIM:617914
Congenital Disorder Of Glycosylation, Type Il
Brachycephaly, Microcephaly, Frontal bossing, Wide mouth, Long philtrum, Villous atrophy OMIM:608776
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Brachycephaly, High, narrow palate, Thick lower lip vermilion, Short philtrum, Dental crowding, S... OMIM:309583
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Brachycephaly, Abnormally large globe, Hydrocephalus, Narrow mouth, Microdontia, Cutis laxa, Fron... OMIM:245600
Anauxetic Dysplasia 3
Cutis laxa, Plagiocephaly, Oligodontia, Broad eyebrow OMIM:618853
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis... OMIM:208540
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Gingival bleeding ORPHA:98870
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Encephalocele, Hydrocephalus, Optic nerve hypoplasia, Remnants of the hyaloid vas... OMIM:614643
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly OMIM:613027
7Q31 Microdeletion Syndrome
Plagiocephaly, Short palpebral fissure, Long philtrum, Telecanthus, Wide mouth, Epicanthus, Intra... ORPHA:251061
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Mosaic Trisomy 1
Orofacial cleft, Microphthalmia, Congenital bilateral ptosis, Thick lower lip vermilion, Short up... ORPHA:1692
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Brachycephaly, Aqueductal stenosis, Plagiocephaly, Bilateral ptosis, Short philtrum, Hydrocephalu... OMIM:619512
Charge Syndrome
Microphthalmia, Anal stenosis, Esophageal atresia, Anophthalmia, Duodenal atresia, Coloboma, Unil... OMIM:214800
48,Xxxy Syndrome
Brachycephaly, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious t... ORPHA:96263
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Histiocytoid Cardiomyopathy
Microphthalmia, Hydrocephalus, Congenital aphakia, Cleft palate, Pallor ORPHA:137675
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Downslanted palpebral fissures, Epicanthus, Aplasia/Hypoplasia of th... ORPHA:2759
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microphthalmia, Hydrocephalus, Coloboma, Everted lower lip vermilion, Microcephaly, Hypoplasia of... OMIM:253280
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Garg-Mishra Progeroid Syndrome
Secondary microcephaly, Dental crowding, Microphthalmia OMIM:620601
Multiple Pterygium-Malignant Hyperthermia Syndrome
Plagiocephaly, Advanced eruption of teeth, Broad alveolar ridges, Exaggerated cupid's bow, Narrow... ORPHA:2215
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Kbg Syndrome
Brachycephaly, Telecanthus, Oligodontia, Synophrys, Microcephaly, Ptosis, Downslanted palpebral f... OMIM:148050
Nance-Horan Syndrome
Microphthalmia, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Dia... OMIM:302350
Gapo Syndrome
Plagiocephaly, High, narrow palate, Thick lower lip vermilion, Redundant skin, Eruption failure, ... OMIM:230740
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Shallow orbi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, Optic nerve hypoplasia, Abnormality of primary teeth, Shallow orbi... ORPHA:352665
Lymphedema-Distichiasis Syndrome
Ectropion, Microphthalmia, Distichiasis, Ptosis, Cleft upper lip, Cleft palate, Conjunctivitis OMIM:153400
Steinfeld Syndrome
Microphthalmia, Median cleft palate, Retinal coloboma, Bifid uvula, Holoprosencephaly, Median cle... OMIM:184705
Intellectual Developmental Disorder, Autosomal Dominant 53
Brachycephaly, Posterior plagiocephaly, Microcephaly, Intestinal malrotation, Downslanted palpebr... OMIM:617798
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Microdontia, Microcephaly, Eclabion, Wide mouth, Excessive wrinkled skin, Short philtrum, Horizon... OMIM:619950
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Anal canal adenocarcinom... ORPHA:424016
Orofaciodigital Syndrome Xv
Midline notch of upper alveolar ridge, Lobulated tongue OMIM:617127
Letterer-Siwe Disease
Stomatitis, Pallor OMIM:246400
Retinitis Pigmentosa 75
Pallor OMIM:617023
Warburg Micro Syndrome 2
Microcephaly, Microphthalmia, Brachycephaly, Secondary microcephaly OMIM:614225
Apert Syndrome
Brachycephaly, Narrow palate, Lambdoidal craniosynostosis, Esophageal atresia, Delayed eruption o... OMIM:101200
Autoimmune Hepatitis
Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Fulmin... ORPHA:2137
Adams-Oliver Syndrome 5
Esophageal varix, Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Hypersplenism OMIM:616028
Weill-Marchesani Syndrome 2
Brachycephaly, Narrow palate, Tooth malposition, Microspherophakia, High palate, Broad skull, Sha... OMIM:608328
Cerebrocostomandibular Syndrome
Hydranencephaly, Meningocele, Short hard palate, Glossoptosis, Myelomeningocele, Spina bifida, Mi... ORPHA:1393
Autosomal Recessive Robinow Syndrome
Wide mouth, Umbilical hernia, Long philtrum, Short philtrum, Exaggerated cupid's bow, Abnormality... ORPHA:1507
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Fanconi Anemia
Microphthalmia, Meckel diverticulum, Tracheoesophageal fistula, Microcephaly, Umbilical hernia, I... ORPHA:84
Choreoacanthocytosis
Blepharospasm, Protruding tongue ORPHA:2388
Lipoid Proteinosis
Thick lower lip vermilion, High palate, Abnormality of the gingiva, Abnormal oral mucosa morpholo... ORPHA:530
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Microphthalmia, Triangular mouth, Dry skin, Microcephaly, Keratoconjuncti... OMIM:601675
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hydrocephalus, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid OMIM:613001
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Bardet-Biedl Syndrome 8
Brachycephaly OMIM:615985
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Aglossia, Pursed lips, Optic disc coloboma OMIM:241310
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Dysostosis, Stanescu Type
Brachycephaly, Abnormal palate morphology, Abnormal dental enamel morphology, Abnormality of the ... ORPHA:1798
Kleefstra Syndrome
Brachycephaly, Advanced eruption of teeth, Delayed eruption of teeth, Highly arched eyebrow, Exag... ORPHA:261494
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Plagiocephaly, Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula, Microcephaly,... OMIM:619227
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Plagiocephaly, Short palpebral fissure, Highly arched eyebrow, Dental crowding, High palate, Long... OMIM:619005
Apert Syndrome
Narrow palate, Esophageal atresia, Delayed eruption of teeth, Hydrocephalus, Cloverleaf skull, Ac... ORPHA:87
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233710
Baller-Gerold Syndrome
Brachycephaly, High palate, Brachyturricephaly, Anal atresia, Narrow mouth, Frontal bossing, Clef... ORPHA:1225
Aica-Ribosiduria Due To Atic Deficiency
Brachycephaly, Frontal bossing, Wide mouth, Thin upper lip vermilion OMIM:608688
Myopathy, Mitochondrial, And Ataxia
Pallor, High palate OMIM:617675
22Q11.2 Deletion Syndrome
Microphthalmia, Turricephaly, Multiple suture craniosynostosis, Microcephaly, Intestinal malrotat... ORPHA:567
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Downturned corners of mouth, Ankyloglossia, Carious teeth, Downslanted palpebral ... OMIM:620186
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Meckel Syndrome, Type 1
Occipital encephalocele, Large placenta, Microphthalmia, Anencephaly, Hydrocephalus, Anal atresia... OMIM:249000
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Plagiocephaly, Abnormal dental enamel morphology, Cleft palate, Epicanthus, Hypodontia, Macrodontia ORPHA:2916
Autosomal Recessive Faciodigitogenital Syndrome
Brachycephaly, Telecanthus, Open bite, High palate, Everted lower lip vermilion, Long palpebral f... ORPHA:1974
Renpenning Syndrome 1
Brachycephaly, Microphthalmia, Telecanthus, Short philtrum, Coloboma, High palate, Narrow mouth, ... OMIM:309500
Adenylosuccinase Deficiency
Brachycephaly, Microcephaly, Wide mouth, Smooth philtrum, Long philtrum, Thin upper lip vermilion OMIM:103050
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Secondary microcephaly, Short palpebral fissure, Brachycephaly, Telecanthus, Upslanted palpebral ... OMIM:620073
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Intestinal polyposis, Stomach cancer, Microcephaly, Frontal bossing, Downslanted ... ORPHA:1052
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho... OMIM:300755
Ramos-Arroyo Syndrome
Aganglionic megacolon, Smooth tongue, Upslanted palpebral fissure, Narrow mouth, Frontal bossing,... ORPHA:1051
Baller-Gerold Syndrome
Turricephaly, Optic nerve hypoplasia, Severe intrauterine growth retardation, Brachyturricephaly,... OMIM:218600
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Holzgreve Syndrome
Turricephaly, Cleft palate, Intrauterine growth retardation, Aplasia/Hypoplasia of the tongue, Bi... ORPHA:2167
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Brachycephaly, Delayed eruption of permanent teeth, Short philtrum, Microcephaly, Rieger anomaly,... ORPHA:521445
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, High palate, Pyloric stenosis, Frontal bossing, Downslanted palpebral fissures, Do... ORPHA:457279
Holoprosencephaly 1
Microphthalmia, Cyclopia, Proboscis, Alobar holoprosencephaly, Median cleft palate, Microcephaly,... OMIM:236100
Microphthalmia, Syndromic 1
Orofacial cleft, Microphthalmia, Ciliary body coloboma, Aganglionic megacolon, Rectal prolapse, H... OMIM:309800
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Orofaciodigital Syndrome Ii
Telecanthus, Hydrocephalus, High palate, Agenesis of central incisor, Cleft palate, Lobulated ton... OMIM:252100
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hyperte... OMIM:263200
Larsen-Like Syndrome
Brachycephaly, Frontal bossing, Dental malocclusion, Cleft palate OMIM:608545
Craniofacial Microsomia 1
Occipital encephalocele, Microphthalmia, Transverse facial cleft, Upper eyelid coloboma, Anophtha... OMIM:164210
Fryns Syndrome
Microphthalmia, Aganglionic megacolon, Non-midline cleft of the upper lip, Ectopic anus, High pal... ORPHA:2059
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Pallor, Aniridia ORPHA:29072
Mycophenolate Mofetil Embryopathy
Orofacial cleft, Microphthalmia, Hydrocephalus, Tracheoesophageal fistula, Chorioretinal coloboma... ORPHA:268249
Hardikar Syndrome
Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m... OMIM:301068
Congenital Disorder Of Glycosylation, Type Iig
Long philtrum, Progressive microcephaly, Glossoptosis, High palate, Narrow mouth, Microcephaly, D... OMIM:611209
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Pierre-Robin sequence, Cleft palate, Glossoptosis OMIM:620269
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... ORPHA:90291
Craniosynostosis And Dental Anomalies
Brachycephaly, Narrow palate, Supernumerary tooth, Turricephaly, Lambdoidal craniosynostosis, Del... OMIM:614188
Alagille Syndrome
Brachycephaly, Spina bifida occulta, Short philtrum, Frontal bossing, Downslanted palpebral fissu... ORPHA:52
Duane-Radial Ray Syndrome
Microphthalmia, Aganglionic megacolon, Anal stenosis, Optic disc hypoplasia, Spina bifida occulta... OMIM:607323
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Microcephaly, Hypodontia, Submucous cleft hard palate ORPHA:3201
Aicardi Syndrome
Plagiocephaly, Microphthalmia, Intestinal polyposis, Short philtrum, Microcephaly, Sparse lateral... ORPHA:50
Fanconi Anemia, Complementation Group D2
Microphthalmia, Esophageal atresia, Hydrocephalus, Anemic pallor, Tracheoesophageal fistula, Micr... OMIM:227646
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Turricephaly, Prominent occiput, Highly arched eyebrow, Microdontia, Microcephaly... OMIM:612474
9Q33.3Q34.11 Microdeletion Syndrome
Brachycephaly, Plagiocephaly, Thin vermilion border, Tented philtrum, Telecanthus, Highly arched ... ORPHA:495818
Acromelic Frontonasal Dysostosis
Brachycephaly, Encephalocele, Telecanthus, Optic nerve hypoplasia, Parietal foramina, Remnants of... OMIM:603671
Hereditary Acrokeratotic Poikiloderma
Ectropion, Skin ulcer, Turricephaly, Xerostomia, Open bite, Keratoconjunctivitis, Abnormality of ... ORPHA:2907
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, Telecanthus, Hydrocephalus, High palate, Brachyturricephaly, Shallow orbits, Micro... OMIM:182212
Frank-Ter Haar Syndrome
Brachycephaly, Redundant neck skin, Abnormally large globe, Broad alveolar ridges, Gingival overg... OMIM:249420
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233690
Yunis-Varon Syndrome
Redundant neck skin, Microphthalmia, Broad secondary alveolar ridge, Glossoptosis, Primary microc... ORPHA:3472
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Tay-Sachs Disease
Pallor OMIM:272800
Ring Chromosome 7 Syndrome
Brachycephaly, Plagiocephaly, Bilateral ptosis, Thin vermilion border, Short philtrum, Highly arc... ORPHA:1449
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Microphthalmia OMIM:301108
Congenital Fibrinogen Deficiency
Microphthalmia, Volvulus, Gingival bleeding ORPHA:335
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Brachycephaly, Lambdoidal craniosynostosis, High palate, Abnormality of the dentition, Downturned... OMIM:615398
Bifid Nose With Or Without Anorectal And Renal Anomalies
Brachycephaly, Short philtrum, Rectovaginal fistula, Short lingual frenulum, Thick eyebrow, Anter... OMIM:608980
Cornelia De Lange Syndrome 1
Highly arched eyebrow, Microcephaly, Malrotation of colon, Long philtrum, Intrauterine growth ret... OMIM:122470
Mosaic Variegated Aneuploidy Syndrome 1
Brachycephaly, Long philtrum, Triangular mouth, Hydrocephalus, Microcephaly, Cleft palate, Epican... OMIM:257300
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Brachycephaly ORPHA:70472
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Pontocerebellar Hypoplasia, Type 1B
Progressive microcephaly, Tongue fasciculations, Tongue atrophy OMIM:614678
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Plagiocephaly, Turricephaly, Telecanthus, Short philtrum, High palate, Ptosis, Wide mouth, Upslan... OMIM:620224
Autosomal Dominant Robinow Syndrome
Umbilical hernia, Long philtrum, Anodontia, Short philtrum, Oligodontia, Frontal bossing, Downsla... ORPHA:3107
Acrodysostosis
Brachycephaly, Telecanthus, Delayed eruption of teeth, Open bite, Frontal bossing, Epicanthus, Op... ORPHA:950
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Brachycephaly, Widely spaced teeth, Highly arched eyebrow, Synophrys, Frontal bossing, Downslante... OMIM:616728
Faciocardiorenal Syndrome
Plagiocephaly, Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia ORPHA:1973
Incontinentia Pigmenti
Orofacial cleft, Microphthalmia, Skin ulcer, Spina bifida occulta, Delayed eruption of teeth, Abn... ORPHA:464
Loeys-Dietz Syndrome 5
Brachycephaly, Cleft soft palate, High palate, Long palpebral fissure, Ptosis, Downslanted palpeb... OMIM:615582
Saethre-Chotzen Syndrome
Brachycephaly, Plagiocephaly, Narrow palate, Open bite, Blepharospasm, Ptosis, Cleft palate, Epic... ORPHA:794
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Penetrating foot ulcers, Ptosis, Buphthalmos, Tongue atrophy ORPHA:99956
Orofaciodigital Syndrome Type 1
Telecanthus, Broad alveolar ridges, Abnormal dental enamel morphology, Open bite, High palate, Dr... ORPHA:2750
Aymé-Gripp Syndrome
Brachycephaly, Bilateral ptosis, Plagiocephaly, Hydrocephalus, Oligodontia, Narrow mouth, Shallow... ORPHA:1272
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Brachycephaly, Plagiocephaly, Short philtrum, Dental crowding, Frontal bossing OMIM:617296
Weill-Marchesani Syndrome 1
Brachycephaly, Narrow palate, Tooth malposition, Microspherophakia, Broad skull, Shallow orbits, ... OMIM:277600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Microdontia, Microcephaly, Frontal bossing, Thick vermilion border, Smooth philtr... OMIM:620005
Pfeiffer Syndrome Type 1
Bicoronal synostosis, Aqueductal stenosis, High palate, Brachycephaly ORPHA:93258
Craniofrontonasal Syndrome
Brachycephaly, Axillary pterygium, Telecanthus, Abnormality of the dentition, Coronal craniosynos... OMIM:304110
Fanconi Anemia, Complementation Group E
Microcephaly, Anemic pallor, Microphthalmia OMIM:600901
Orofaciodigital Syndrome Type 6
Highly arched eyebrow, High palate, Biparietal narrowing, Abnormal oral frenulum morphology, Fron... ORPHA:2754
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Plagiocephaly, Exaggerated cupid's bow, Narrow mouth, Spina bifida, Frontal bossing, Downslanted ... OMIM:619480
Sweeney-Cox Syndrome
Brachycephaly, Upper eyelid coloboma, Short philtrum, High palate, Narrow mouth, Anal atresia, Me... OMIM:617746
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Dental malocclusion, Coloboma, Lacrimal duct atresia, High palate, Synophrys, Hyp... OMIM:603457
Robinow Syndrome, Autosomal Dominant 3
Telecanthus, Triangular mouth, Dental malocclusion, Gingival overgrowth, Long eyelashes, Frontal ... OMIM:616894
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Sparse eyelashes, Frontal bossing, Sparse eyebrow, Downslanted palpebral fissures OMIM:302960
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Oligodontia, Glossoptosis, Narrow mouth, Myelomeningocele, Downslan... ORPHA:90652
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Brachycephaly, Posterior plagiocephaly, Telecanthus, Optic nerve hypoplasia, High palate, Microce... OMIM:620330
Oculocerebrorenal Syndrome Of Lowe
Microphthalmia, Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Umbilica... ORPHA:534
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Saethre-Chotzen Syndrome
Brachycephaly, Plagiocephaly, Narrow palate, Lambdoidal craniosynostosis, Parietal foramina, Abno... OMIM:101400
Sepsis In Premature Infants
Petechiae, Enterocolitis, Purpura, Pallor ORPHA:90051
Duplication Of The Pituitary Gland
Supernumerary tooth, Encephalocele, Brachyturricephaly, Microcephaly, Volvulus, Cleft palate, Wid... ORPHA:314621
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Meckel Syndrome 14
Decreased calvarial ossification, Occipital encephalocele, Microphthalmia, Holoprosencephaly OMIM:619879
Metachromatic Leukodystrophy
Abnormal stomach morphology, Hemobilia, Abnormal duodenum morphology, Neoplasm of the gallbladder... ORPHA:512
Waldenström Macroglobulinemia
Purpura, Gingival bleeding, Pallor ORPHA:33226
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Plagiocephaly, Telecanthus, Ptosis, Downturned corners of mouth, Smooth philtrum, Long philtrum, ... OMIM:618548
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Microcephaly, Cleft palate, Glossoptosis OMIM:618356
Esophageal Atresia
Coloboma, Barrett esophagus, Esophagitis, Tracheoesophageal fistula, Intestinal malrotation, Clef... ORPHA:1199
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Brachycephaly, Microphthalmia, Anal atresia, Decreased calvarial ossification, Frontal bossing, C... OMIM:617925
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Anemic pallor, Small intestinal polyposis, Adenomatous colonic polyposis, Duode... ORPHA:329971
Ayme-Gripp Syndrome
Brachycephaly, Long philtrum, Broad eyebrow, Narrow mouth, Abnormality of the dentition, Ptosis, ... OMIM:601088
Chromosome 14Q11-Q22 Deletion Syndrome
Plagiocephaly, Short palpebral fissure, High palate, Narrow mouth, Microcephaly, Epicanthus, Long... OMIM:613457
Fanconi Anemia, Complementation Group A
Microcephaly, Anemic pallor, Microphthalmia OMIM:227650
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Elsahy-Waters Syndrome
Brachycephaly, Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Anal stenosis... OMIM:211380
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Lig4 Syndrome
Microcephaly, Upslanted palpebral fissure, Brachycephaly, Epicanthus OMIM:606593
Doors Syndrome
Bilateral ptosis, Prominent occiput, Broad alveolar ridges, Microcephaly, Long philtrum, Narrow p... ORPHA:79500
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Brachycephaly, Short palpebral fissure, Thick lower lip vermilion, Short philtrum, Oligodontia, H... OMIM:309590
Mandibuloacral Dysplasia
Abnormal tongue morphology, Abnormally large globe, Dental crowding, High palate, Hypoplasia of t... ORPHA:2457
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Pallor, Microcephaly, Smooth philtrum OMIM:277400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis OMIM:618398
Fanconi Anemia, Complementation Group L
Microphthalmia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Anal atresia, Cleft... OMIM:614083
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Microcephaly, Pallor OMIM:246450
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Intrauterine growth retardation, Pallor OMIM:301310
Adnp Syndrome
Brachycephaly, Plagiocephaly, Bilateral ptosis, Advanced eruption of teeth, Thick lower lip vermi... ORPHA:404448
Senior-Loken Syndrome 8
Pallor OMIM:616307
Isolated Biliary Atresia
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Acholic stools, Cholestasis, Bile duct pr... ORPHA:30391
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Plagiocephaly, Everted lower lip vermilion, Microcephaly, Downslanted palpebral fissures, Thick e... OMIM:615471
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Brachycephaly, Microdontia of primary teeth, Highly arched eyebrow, Gingival overgrowth, High pal... OMIM:213980
Trichothiodystrophy
Ectropion, Bilateral microphthalmos, High, narrow palate, Dry skin, Microcephaly, Conjunctivitis,... ORPHA:33364
Alternating Hemiplegia Of Childhood
Downturned corners of mouth, Pallor, Exaggerated cupid's bow, Thin eyebrow ORPHA:2131
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short palpebral fissure, Microphthalmia, Optic nerve hypoplasia, Coloboma, Almond-shaped palpebra... ORPHA:508498
Hypoglossia-Hypodactylia
Aglossia, Narrow mouth, Epicanthus, Microglossia OMIM:103300
Non-Functioning Pituitary Adenoma
Ptosis, Pallor ORPHA:91349
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophageal fistula, Anal ... ORPHA:141127
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Odontoonychodermal Dysplasia
Smooth tongue, Conical incisor, Abnormality of primary teeth, Dry skin, Palmoplantar erythema, Sp... OMIM:257980
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Microphthalmia, Delayed eruption of teeth, Narrow philtrum, Shallow orbits... OMIM:601812
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Brachycephaly, Lambdoidal craniosynostosis, Hydrocephalus, Coronal craniosynostosis, Frontal boss... OMIM:207410
Helsmoortel-Van Der Aa Syndrome
Bilateral ptosis, Everted lower lip vermilion, Microdontia, Ectropion of lower eyelids, Wide mout... OMIM:615873
Childhood Absence Epilepsy
Pallor ORPHA:64280
Neu-Laxova Syndrome 1
Short umbilical cord, Microphthalmia, Thick lower lip vermilion, Small placenta, Swollen lip, Hyd... OMIM:256520
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Coloboma, Cranial asymmetry, Abnormal dental morphology OMIM:163200
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Plagiocephaly, High palate, Upslanted palpebral fissure OMIM:617822
Robinow Syndrome, Autosomal Dominant 1
Dental crowding, Umbilical hernia, Long philtrum, Narrow palate, Triangular mouth, Frontal bossin... OMIM:180700
Achard Syndrome
Brachycephaly, Broad skull OMIM:100700
Pituitary Apoplexy
Ptosis, Pallor ORPHA:95613
Fanconi Anemia, Complementation Group N
Microcephaly, Anal atresia, Microphthalmia, Epicanthus OMIM:610832
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Supernumerary tooth, Aplasia of the epiglottis, Telecanthus, Retinal col... OMIM:615948
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Brachycephaly, Narrow mouth, Long eyelashes, Shallow orbits, Downslanted palpebral fissures, Clef... OMIM:601353
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Cleft palate, Glossoptosis ORPHA:440354
Smith-Lemli-Opitz Syndrome
Tooth agenesis, Microcephaly, Wide mouth, Long philtrum, Intrauterine growth retardation, Advance... ORPHA:818
Common Variable Immunodeficiency
Lymphadenopathy, Gastrointestinal stroma tumor, Anal atresia, Splenomegaly, Lymphopenia, Abnormal... ORPHA:1572
Carpenter Syndrome 2
Brachycephaly, Narrow palate, High, narrow palate, Highly arched eyebrow, Nasolacrimal duct obstr... OMIM:614976
Gorlin Syndrome
Brachycephaly, Orofacial cleft, Telecanthus, Odontogenic keratocysts of the jaw, Hydrocephalus, F... ORPHA:377
Myhre Syndrome
Microphthalmia, Short philtrum, Blepharophimosis, Narrow mouth, Microcephaly, Cleft lip, Cleft pa... OMIM:139210
Acrodysostosis 1 With Or Without Hormone Resistance
Brachycephaly, Delayed eruption of teeth, Hydrocephalus, Hypodontia, Calvarial hyperostosis, Epic... OMIM:101800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Buphthalmos, Microphthalmia OMIM:616538
Orofaciodigital Syndrome Vi
High palate, Incomplete cleft of the upper lip, Cleft upper lip, Occipital meningocele, Cleft pal... OMIM:277170
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis OMIM:615947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Microphthalmia, Holoprosencephaly, Encephalocele OMIM:253800
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Microphthalmia, Aganglionic megacolon, Optic disc hypoplasia, Coloboma, ... ORPHA:959
Faundes-Banka Syndrome
Plagiocephaly, Broad eyebrow, Hypoplasia of the lower eyelids, Long palpebral fissure, Frontal bo... OMIM:619376
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Orofacial cleft, Microphthalmia, Cyclopia, Microcephaly, Holoprosencephaly, Median cleft upper li... ORPHA:3186
Robinow Syndrome, Autosomal Recessive 1
Dental crowding, Tooth agenesis, Wide mouth, Umbilical hernia, Long philtrum, Narrow palate, Shor... OMIM:268310
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Furrowed tongue, Microcephaly, Thick eyebrow, Smooth philtrum, Diastema, Upslanted p... OMIM:300534
Diamond-Blackfan Anemia
Cleft soft palate, High palate, Adenocarcinoma of the colon, Microcephaly, Ptosis, Cleft lip, Epi... ORPHA:124
Hoxha-Aliu Syndrome
Brachycephaly, Highly arched eyebrow, High palate, Ptosis, Epicanthus OMIM:620662
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Abnormality of the orbital region, Optic nerve hypoplasia, Narrow mouth... ORPHA:468631
Cartilage-Hair Hypoplasia
Brachycephaly, Abnormal palate morphology, Aganglionic megacolon, Gingival overgrowth, Aplasia/Hy... ORPHA:175
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly, Irregular dentition, Cleft palate, Smooth philtrum, Blepharophimosis OMIM:615656
Orofaciodigital Syndrome Iii
Supernumerary tooth, Microdontia, Bifid uvula, Tongue nodules, Bifid tongue OMIM:258850
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
3-Hydroxy-3-Methylglutaric Aciduria
Microcephaly, Pallor ORPHA:20
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Microphthalmia, Thin vermilion border, Parietal foramina, High palate, Micro... OMIM:609945
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Buphthalmos, Remnants of the hyaloid vascular system, Hyaloid vascular remnant an... ORPHA:91495
Chand Syndrome
Agenesis of maxillary incisor, Dry skin, Abnormal oral frenulum morphology, Commissural lip pit, ... ORPHA:1401
Mend Syndrome
Microphthalmia, Telecanthus, Hydrocephalus, High palate, Asymmetry of the mouth, Cleft palate, Up... ORPHA:401973
Marshall-Smith Syndrome
Short mandibular rami, Prominent occiput, Highly arched eyebrow, Optic nerve hypoplasia, Glossopt... OMIM:602535
Specc1L-Related Hypertelorism Syndrome
Brachycephaly, Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Highly arched ... ORPHA:1519
Familial Exudative Vitreoretinopathy
Microcephaly, Microphthalmia ORPHA:891
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Agel Amyloidosis
Bilateral ptosis, Xerostomia, Dry skin, Cutis laxa, Blepharochalasis, Keratoconjunctivitis sicca,... ORPHA:85448
Progressive Non-Infectious Anterior Vertebral Fusion
Brachycephaly, Thin vermilion border, Short philtrum, Downslanted palpebral fissures, Wide mouth ORPHA:2062
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Hematochezia, Splenomegaly... OMIM:620565
Prolactinoma
Ptosis, Pallor ORPHA:2965
Intellectual Developmental Disorder, Autosomal Dominant 66
Brachycephaly, Plagiocephaly OMIM:619910
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Spinocerebellar Ataxia 36
Ptosis, Tongue fasciculations, Tongue atrophy OMIM:614153
Contractural Arachnodactyly, Congenital
Brachycephaly, High palate, Frontal bossing, Dolichocephaly, Scaphocephaly OMIM:121050
Turnpenny-Fry Syndrome
Brachycephaly, Plagiocephaly, Hypoplasia of the primary teeth, Widely spaced teeth, Dental malocc... OMIM:618371
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hydrocephalus, Anal atresia, Microcephaly, Cleft palate, Colonic atresia, Anterio... OMIM:309801
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Brachycephaly, Short palpebral fissure, Abnormality of the dentition, Anal atresia, Bifid uvula, ... OMIM:300968
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Delayed eruption of primary teeth, Lacrimal duct atresia OMIM:300952
White-Sutton Syndrome
Brachycephaly, Short philtrum, High palate, Narrow mouth, Microcephaly, Downturned corners of mou... ORPHA:468678
Cockayne Syndrome B
Normal pressure hydrocephalus, Microphthalmia, Dental malocclusion, Dry skin, Hypoplasia of the i... OMIM:133540
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Secondary microcephaly, Plagiocephaly, Widely spaced teeth, Upslanted palpebral fissure, Sparse e... ORPHA:496641
Hunter-Macdonald Syndrome
Brachycephaly, Short palpebral fissure, Short philtrum, Ptosis, Umbilical hernia, Upslanted palpe... OMIM:611962
7Q11.23 Microduplication Syndrome
Brachycephaly, Thin vermilion border, Dental malocclusion, Short philtrum, Hydrocephalus, Short l... ORPHA:96121
X-Linked Agammaglobulinemia
Skin ulcer, Glossoptosis, Conjunctivitis ORPHA:47
X-Linked Intellectual Disability, Snyder Type
Brachycephaly, Thick lower lip vermilion, Short philtrum, Dental crowding, High palate, Everted l... ORPHA:3063
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Aicardi Syndrome
Microphthalmia, Spina bifida, Microcephaly, Sparse lateral eyebrow, Cleft upper lip, Cleft palate... OMIM:304050
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Brachycephaly, Short palpebral fissure, Redundant neck skin, Long philtrum, Thin vermilion border... OMIM:617157
Psoriasis 14, Pustular
Geographic tongue, Furrowed tongue, Erythema OMIM:614204
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Spinocerebellar Ataxia Type 36
Ptosis, Tongue fasciculations, Tongue atrophy ORPHA:276198
Moebius Syndrome
High palate, Everted lower lip vermilion, Microdontia, Tooth agenesis, Blepharitis, Ptosis, Cleft... ORPHA:570
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Furrowed tongue, Microdontia, Sparse eyelashes, Sparse eyebrow, Oral leukoplakia, Ker... OMIM:148210
Arboleda-Tham Syndrome
Highly arched eyebrow, Microcephaly, Intestinal malrotation, Wide mouth, Intrauterine growth reta... OMIM:616268
Wiedemann-Rautenstrauch Syndrome
Ectropion, Intrauterine growth retardation, Long philtrum, Entropion, Hydrocephalus, Absent eyela... OMIM:264090
Roberts Syndrome
Brachycephaly, Microphthalmia, Severe intrauterine growth retardation, High palate, Microcephaly,... ORPHA:3103
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Splenomegal... OMIM:306400
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Adams-Oliver Syndrome 1
Microphthalmia, Encephalocele, Microcephaly, Cleft upper lip, Cleft palate, Calvarial skull defect OMIM:100300
Galloway-Mowat Syndrome 4
Plagiocephaly, Primary microcephaly OMIM:617730
Dihydropyrimidinase Deficiency
Microcephaly, Plagiocephaly, Anal atresia OMIM:222748
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Pallor ORPHA:98849
Fibrochondrogenesis
Plagiocephaly, Downslanted palpebral fissures, Cleft palate, Narrow mouth ORPHA:2021
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hydrocephalus, Premature loss of primary teeth, Craniosynostosis, Pallor ORPHA:667
Noonan Syndrome With Multiple Lentigines
Brachycephaly, Excessive wrinkled skin, Spina bifida occulta, Ptosis, Intrauterine growth retarda... ORPHA:500
Adenohypophysitis
Pallor ORPHA:95512
Traboulsi Syndrome
Microphthalmia, High palate, Downslanted palpebral fissures, Bifid uvula, Spontaneous conjunctiva... OMIM:601552
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Fraser Syndrome 2
Microphthalmia, Narrow mouth, Anal atresia, Intestinal malrotation, Cryptophthalmos, Rectal atresia OMIM:617666
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Abnormal Hair, Joint Laxity, And Developmental Delay
Sparse lateral eyebrow, Plagiocephaly, Microdontia OMIM:261990
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Plagiocephaly, Highly arched eyebrow, Dental crowding, Open bite, High palate, Microcephaly, Down... OMIM:620083
Coffin-Siris Syndrome 1
Duodenal ulcer, Microdontia, Microcephaly, Intestinal malrotation, Wide mouth, Umbilical hernia, ... OMIM:135900
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Brachycephaly, High palate OMIM:619995
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Buphthalmos, Remnants of the hyaloid vascular system, Phthisis bulbi, Iris coloboma OMIM:221900
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Microphthalmia, Microcephaly, Duodenal atresia OMIM:603467
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Steatorrhea, Hepatocellular car... ORPHA:186
Panhypophysitis
Pallor ORPHA:95513
Congenital Fibrosis Of Extraocular Muscles
Plagiocephaly, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Ptosis, Congenital f... ORPHA:45358
Tarp Syndrome
Short palpebral fissure, Meckel diverticulum, Glossoptosis, High palate, Cleft palate, Intrauteri... OMIM:311900
Aregenerative Anemia
Pallor ORPHA:101096
Pallister-Hall Syndrome
Microphthalmia, Anal atresia, Cleft upper lip, Cleft palate, Holoprosencephaly, Natal tooth, Micr... OMIM:146510
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Distal Deletion 12Q
Brachycephaly, Supernumerary tooth, High, narrow palate, Esophageal atresia, Telecanthus, Microce... ORPHA:96149
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Ascites, Biliary hyperplasia, Splenome... ORPHA:731
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Median cleft palate, Intestinal malrotation, Natal tooth, Holoprosenc... OMIM:269860
Cerebellar Ataxia-Hypogonadism Syndrome
Brachycephaly ORPHA:1173
Acro-Renal-Mandibular Syndrome
Orofacial cleft, Short philtrum, High palate, Tracheoesophageal fistula, Downslanted palpebral fi... ORPHA:958
Sheehan Syndrome
Pallor, Dry skin ORPHA:91355
Faciodigitogenital Syndrome, Autosomal Recessive
Brachycephaly, Narrow palate, High palate, Long palpebral fissure, Downslanted palpebral fissures... OMIM:227330
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Plagiocephaly, Highly arched eyebrow, Glossoptosis, High palate, Long eyelashes, Microcephaly, Sy... ORPHA:444077
Atelosteogenesis Type Ii
Plagiocephaly, Telecanthus, Bilateral cleft palate, Cleft palate, Epicanthus, Long philtrum, Thin... ORPHA:56304
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Progressive microcephaly, R... OMIM:609049
Alpha-Mannosidosis, Infantile Form
Brachycephaly, Cranial hyperostosis, Widely spaced teeth, Highly arched eyebrow, Communicating hy... ORPHA:309282
Ulnar-Mammary Syndrome
Breast aplasia, Hypoplasia of penis, Ectopic anus, Hypoplastic nipples, Anal atresia, Pyloric ste... ORPHA:3138
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy OMIM:620285
Mesomelic Dysplasia, Nievergelt Type
Brachycephaly, Dolichocephaly ORPHA:2633
Hereditary Mucoepithelial Dysplasia
Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula ORPHA:1839
Hypoglossia-Hypodactyly Syndrome
Telecanthus, High palate, Narrow mouth, Anal atresia, Cleft palate, Hypodontia, Aplasia/Hypoplasi... ORPHA:989
Orofaciodigital Syndrome Type 2
Telecanthus, Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central ... ORPHA:2751
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Plagiocephaly, Short lingual frenulum, High palate, Sparse eyebrow, Wide mouth, Craniosynostosis ORPHA:1521
Fryns Syndrome
Microphthalmia, Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Anal atresia, Int... OMIM:229850
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Plagiocephaly, Brachycephaly, Microcephaly ORPHA:500055
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Plagiocephaly, Upper eyelid entropion, Hydrocephalus, Optic nerve hypoplasia, Open mouth ORPHA:457284
Witteveen-Kolk Syndrome
Short palpebral fissure, Microphthalmia, Medial flaring of the eyebrow, Thick lower lip vermilion... OMIM:613406
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Ganglioneuromatosis, Abnormal tongue morphology, Thick vermilion border, P... ORPHA:653
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Brachycephaly, Iris coloboma, Abnormality of the orbital region, Pterygium ORPHA:371428
Neuroblastoma
Anemic pallor, Horner syndrome ORPHA:635
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Brachycephaly, Telecanthus, High palate, Narrow mouth, Intestinal malrotation, Downslanted palpeb... OMIM:601776
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Glossoptosis, Downslanted palpebral fissures, Cleft palate, Iris coloboma ORPHA:436003
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Midgut malrotation, Pyloric stenosis, Cleft palate, Cryptorchidism, Micropenis OMIM:263750
Pearson Marrow-Pancreas Syndrome
Pallor, Villous atrophy, Erythema, Steatorrhea OMIM:557000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Plagiocephaly, Hydrocephalus, High palate, Microdontia, Frontal bossing, Carious teeth, Dentinoge... ORPHA:536467
Papillorenal Syndrome
Orbital cyst, Microphthalmia, Optic disc coloboma, Retinal coloboma OMIM:120330
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Brachycephaly, High, narrow palate, Premature loss of teeth, Exaggerated cupid's bow, Downturned ... ORPHA:369837
Wiedemann-Rautenstrauch Syndrome
Severe intrauterine growth retardation, Cranial asymmetry, Intrauterine growth retardation, Entro... ORPHA:3455
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Palpebral edema, Microcephaly, Broad philtrum, Intrauterine growth retardation, Short uvula, Shor... OMIM:619475
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Brachycephaly, Plagiocephaly, Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth... OMIM:301072
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Plagiocephaly, Large placenta, Redundant neck skin, Short palpebral fissure, Long philtrum, Short... ORPHA:96334
Cornelia De Lange Syndrome
Highly arched eyebrow, Microcephaly, Intestinal malrotation, Long philtrum, Intrauterine growth r... ORPHA:199
Cartilage-Hair Hypoplasia
Brachycephaly, Aganglionic megacolon, Anal stenosis, Esophageal atresia, Sparse eyelashes, Sparse... OMIM:250250
Phace Syndrome
Microphthalmia, Abnormality of the orbital region, Optic nerve hypoplasia, Microcephaly, Ptosis, ... ORPHA:42775
Phace Association
Optic nerve hypoplasia, Microphthalmia, Horner syndrome OMIM:606519
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Jaundice, Aplasia/Hypoplasia of the pancreas, Hypospadias, Abnormality of en... ORPHA:93111
Orofaciodigital Syndrome Type 3
Abnormality of the dentition, Irregular dentition, Bifid uvula, Lobulated tongue, Hamartoma of to... ORPHA:2752
Xeroderma Pigmentosum, Complementation Group B
Microcephaly, Microphthalmia OMIM:610651
Orofaciodigital Syndrome Type 14
Supernumerary tooth, Aplasia of the epiglottis, Telecanthus, Retinal coloboma, Microcephaly, Trig... ORPHA:434179
Alg12-Cdg
Posterior plagiocephaly, Short philtrum, Progressive microcephaly, Redundant skin, Intestinal mal... ORPHA:79324
Catel-Manzke Syndrome
Glossoptosis, High palate, Narrow mouth, Cleft upper lip, Bifid uvula, Cleft palate, Pierre-Robin... OMIM:616145
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Scaling skin, Dental crowding, Cutis laxa, Wide mouth, Medial flaring of the eyebrow, Congenital ... OMIM:619503
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Peters Plus Syndrome
Brachycephaly, Short palpebral fissure, Long philtrum, Widely spaced teeth, Spina bifida occulta,... ORPHA:709
Tetraamelia Syndrome 2
Cleft palate, Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Isolated Arrhinia
Microphthalmia, Eyelid coloboma ORPHA:1134
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Short hard palate, Glossoptosis, High palate, Microcephaly, Car... OMIM:117650
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Microdontia, Anterior plagiocephaly... OMIM:619718
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Stomatitis, Glossitis, High palate, Tracheoesophageal fistula, Epicanthus, Thin upper lip vermilion OMIM:277380
Alg9-Cdg
Brachycephaly, Telecanthus, Progressive microcephaly, Shallow orbits, Frontal bossing, Bifid uvul... ORPHA:79328
Robinow Syndrome
Orofacial cleft, Triangular mouth, Tooth malposition, Hypodontia, Dental crowding, Broad alveolar... ORPHA:97360
Cockayne Syndrome
Microphthalmia, Premature skin wrinkling, Dental malocclusion, Progressive microcephaly, Agenesis... ORPHA:191
Fucosidosis
Brachycephaly, Abnormality of the dentition ORPHA:349
Melkersson-Rosenthal Syndrome
Cheilitis, Macroglossia, Furrowed tongue ORPHA:2483
Arthrogryposis, Distal, Type 4
Cranial asymmetry OMIM:609128
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Plagiocephaly, High, narrow palate, Widely spaced teeth, Short philtrum, Dental crowding, Frontal... ORPHA:466791
Rabson-Mendenhall Syndrome
Advanced eruption of teeth, Dental crowding, Gingival overgrowth, High palate, Abnormality of the... ORPHA:769
Phosphoribosylaminoimidazole Carboxylase Deficiency
Brachycephaly, Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Stuve-Wiedemann Syndrome 1
Thin vermilion border, Short palpebral fissure, Premature skin wrinkling, Smooth tongue, Frontal ... OMIM:601559
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Brachycephaly, Narrow palate, Cleft palate, Epicanthus, Cleft lip OMIM:618223
Hyperlipoproteinemia, Type I
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly OMIM:238600
Hyperparathyroidism, Transient Neonatal
Brachycephaly, Frontal bossing, Communicating hydrocephalus, Umbilical hernia OMIM:618188
Humeroradial Synostosis
Brachycephaly OMIM:236400
Osteogenesis Imperfecta, Type Xi
Brachycephaly, Dentinogenesis imperfecta OMIM:610968
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Villous atrophy, Anemia, Lymphadenopathy, Anoperineal fistula, Gastritis, B lymph... OMIM:619381
Brown-Vialetto-Van Laere Syndrome 1
Ptosis, Tongue fasciculations, Tongue atrophy OMIM:211530
Tarp Syndrome
Short palpebral fissure, Glossoptosis, Cleft palate, Thick eyebrow, Abnormal duodenum morphology,... ORPHA:2886
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Secondary microcephaly, Brachycephaly, Thin upper lip vermilion ORPHA:456312
X-Linked Intellectual Disability, Armfield Type
Brachycephaly, Short philtrum, Downslanted palpebral fissures, Cleft palate, Wide mouth, Downturn... ORPHA:85276
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia, Optic disc coloboma, Dental malocclusion OMIM:608940
Roberts-Sc Phocomelia Syndrome
Brachycephaly, Microphthalmia, Craniosynostosis, Hydrocephalus, Coloboma, Severe intrauterine gro... OMIM:268300
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Plagiocephaly, Short philtrum, Optic nerve hypoplasia, Upslanted palpebral fissure, Narrow mouth,... OMIM:620455
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
Distal Deletion 15Q
Flat occiput, Short philtrum, Abnormality of the dentition, Microcephaly, Bifid tongue, Cleft pal... ORPHA:1596
Idiopathic Hypereosinophilic Syndrome
Pallor, Colitis ORPHA:3260
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Intussusception, Pallor, Intestinal perforation ORPHA:544482
Tsh-Secreting Pituitary Adenoma
Ptosis, Pallor ORPHA:91347
Bazex-Dupre-Christol Syndrome
Furrowed tongue OMIM:301845
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Coloboma ORPHA:85167
8Q24.3 Microdeletion Syndrome
Secondary microcephaly, Long philtrum, Bilateral microphthalmos, Mesiodens, Spina bifida occulta,... ORPHA:508488
Pallister-Hall Syndrome
Microphthalmia, Anal atresia, Trigonocephaly, Ptosis, Downslanted palpebral fissures, Bifid uvula... ORPHA:672
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Aplasia of the sweat glands, Spl... OMIM:612132
Mandibuloacral Dysplasia Progeroid Syndrome
Brachycephaly, Short philtrum, Hypodontia, Intra-oral hyperpigmentation, High palate, Narrow mout... OMIM:619127
Metaphyseal Chondrodysplasia, Jansen Type
Brachycephaly, Tooth malposition OMIM:156400
6Q Terminal Deletion Syndrome
Plagiocephaly, Short palpebral fissure, High, narrow palate, Highly arched eyebrow, Dolichocephal... ORPHA:75857
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachycephaly, Intestinal malrotation, Cleft palate, Microglossia, Hamartoma of tongue, Median cl... OMIM:263520
Mowat-Wilson Syndrome
Microphthalmia, Aganglionic megacolon, Widely spaced teeth, Broad eyebrow, Tooth malposition, Del... OMIM:235730
Giant Cell Arteritis
Glossitis, Ptosis, Skin ulcer ORPHA:397
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intrauterine growth retardation, Cleft palate, Glossitis, Stomatitis ORPHA:79284
Cowden Syndrome 5
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Colonic diverticula OMIM:615108
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Protein-losing enteropathy, Xerostomia, Hamartomatous polyposis OMIM:175500
Hartnup Disease
Glossitis, Gingivitis ORPHA:2116
Ectodermal Dysplasia-Skin Fragility Syndrome
Scaling skin, Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Abnormality of the dent... ORPHA:158668
Viss Syndrome
Ectropion, Cutis laxa, Microcephaly, Intestinal malrotation, Bifid uvula, Malposition of the stom... OMIM:619472
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Rectal abscess, Dermal sinus tract, Myelomeningocele OMIM:600145
Cowden Syndrome 6
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Colonic diverticula OMIM:615109
Chromosome 1P36 Deletion Syndrome, Distal
Brachycephaly, Orofacial cleft, Hydrocephalus, Abnormality of the anus, High palate, Synophrys, H... OMIM:607872
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus, Anal atresia, Cleft upper lip, Cleft palate OMIM:273395
Multicentric Osteolysis, Nodulosis, And Arthropathy
Brachycephaly, Frontal bossing, Gingival overgrowth, Delayed eruption of teeth OMIM:259600
Osteopetrosis With Renal Tubular Acidosis
Brachycephaly, Plagiocephaly, Thick lower lip vermilion, Tooth malposition, High palate, Abnormal... ORPHA:2785
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Pallor ORPHA:892
Kawasaki Disease
Cheilitis, Glossitis, Scaling skin on fingertip, Palmoplantar erythema, Conjunctival hyperemia, P... ORPHA:2331
Cleidocranial Dysplasia 2
Supernumerary tooth, Plagiocephaly, Delayed eruption of primary teeth OMIM:620099
Hydrolethalus Syndrome 1
Microphthalmia, Anencephaly, Cleft palate, Severe hydrocephalus, Intrauterine growth retardation,... OMIM:236680
Cockayne Syndrome Type 3
Microphthalmia, Progressive microcephaly, Enamel hypoplasia, Carious teeth, Keratoconjunctivitis ... ORPHA:90324
Osteogenesis Imperfecta
Brachycephaly, Intestinal obstruction, Prominent occiput, Hydrocephalus, Delayed eruption of teet... ORPHA:666
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Secondary microcephaly, Brachycephaly, Steatorrhea, Progressive microcephaly, Thin upper lip verm... OMIM:616263
Charcot-Marie-Tooth Disease Type 1F
Optic nerve hypoplasia, Tongue atrophy ORPHA:101085
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Brachycephaly, Thick lower lip vermilion, Synophrys, Microcephaly, Thick vermilion border, Epican... OMIM:610442
Trichorhinophalangeal Syndrome, Type Ii
Plagiocephaly, Chronic gastritis, Dry skin, Redundant skin in infancy, Cutis laxa, Microcephaly, ... OMIM:150230
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Brachycephaly, Short palpebral fissure, Abnormal periodontium morphology, Telecanthus, Tooth malp... ORPHA:480880
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Brachycephaly, High, narrow palate, Turricephaly, Hydrocephalus, Narrow mouth, Frontal bossing, C... ORPHA:95699
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Plagiocephaly, Abnormal palate morphology, Hydrocephalus, Synophrys, Downslanted palpebral fissures ORPHA:3042
Myopathy, Myofibrillar, 7
Tongue atrophy OMIM:617114
Cowden Syndrome 1
Narrow mouth, High palate, Furrowed tongue, Hamartomatous polyposis, Colonic diverticula OMIM:158350
Congenital Disorder Of Deglycosylation 1
Microcephaly, Ptosis, Brachycephaly, Open mouth OMIM:615273
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Hydrocephalus, Stomatitis, Glossitis, Microcephaly, Smooth philtrum, Intrauteri... ORPHA:79282
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Smooth tongue, Enamel hypoplasia, Craniosynostosis, Oral mucosal blisters ORPHA:79396
Thrombocytopenia-Absent Radius Syndrome
Brachycephaly, Meckel diverticulum, Spina bifida, Ptosis, Cleft palate OMIM:274000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Brachycephaly, Skin ulcer, Hydrocephalus, Esophageal varix, Ptosis, Ecchymosis, Gastric ulcer ORPHA:2072
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Primary amenorrhea, Male infertility, Azoospermia ORPHA:90797
Aicardi-Goutières Syndrome
Plagiocephaly, Dry skin, Microcephaly, Ptosis, Eyelid coloboma ORPHA:51
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Anal atresia, Intestinal malrotation, Cleft upper lip, Cleft palate, Hamartoma of tongue, Bifid t... OMIM:613091
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Furrowed tongue, Erythematous oral mucosa OMIM:158310
Amyotrophic Lateral Sclerosis
Xerostomia, Tongue atrophy ORPHA:803
1P36 Deletion Syndrome
Brachycephaly, Abnormal intestine morphology, Narrow mouth, Microcephaly, Frontal bossing, Abnorm... ORPHA:1606
Ulnar-Mammary Syndrome
Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperforate... OMIM:181450
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Dental crowding, Bifid uvula, Primary microcephaly, Aganglionic megacolon, Short ... ORPHA:261537
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Mowat-Wilson Syndrome
Microphthalmia, Dental crowding, Everted lower lip vermilion, Microcephaly, Bifid uvula, Aganglio... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Highly arched eyebrow, Dental crowding, Bifid uvula, Primary microcephaly, Agangl... ORPHA:261552
Autosomal Dominant Kenny-Caffey Syndrome
Intrauterine growth retardation, Carious teeth, Bilateral microphthalmos, Persistence of primary ... ORPHA:93325
Stickler Syndrome
Advanced eruption of teeth, Telecanthus, Short hard palate, Abnormal dental enamel morphology, Op... ORPHA:828
Osteoporosis-Pseudoglioma Syndrome
Microcephaly, Phthisis bulbi, Microphthalmia OMIM:259770
Pachyonychia Congenita 3
Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia OMIM:615726
Aromatase Deficiency
Primary amenorrhea, Female infertility, Male infertility, Hypergonadotropic hypogonadism ORPHA:91
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Glossoptosis ORPHA:94068
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Generalized Pustular Psoriasis
Geographic tongue, Cheilitis ORPHA:247353
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Brachycephaly, Esophageal atresia, Meckel diverticulum, Congenital shortened small intestine, Tra... OMIM:265380
Townes-Brocks Syndrome
Microphthalmia, Rectovaginal fistula, Anal atresia, Rectoperineal fistula, Wide mouth, Chorioreti... ORPHA:857
Norrie Disease
Thin vermilion border, Microphthalmia, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid va... ORPHA:649
Aspartylglucosaminuria
Brachycephaly, Thick lower lip vermilion, Microcephaly, Wide mouth, Thickened calvaria, Macroglossia OMIM:208400
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy ORPHA:99949
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Microcephaly, Plagiocephaly, Chalazion, Epicanthus OMIM:613355
Liver Disease, Severe Congenital
Plagiocephaly, Protein-losing enteropathy, Chronic gastritis, Epicanthus, Umbilical hernia, Intra... OMIM:619991
Cowden Syndrome
Colorectal polyposis, Conjunctival hamartoma, High palate, Furrowed tongue, Hamartomatous polypos... ORPHA:201
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Williams Syndrome
Peptic ulcer, Rectal prolapse, Cholelithiasis, Hypoplasia of penis, Gastroesophageal reflux, Trac... ORPHA:904
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Microcephaly, Tongue atrophy ORPHA:466768
Primrose Syndrome
Brachycephaly, Thick lower lip vermilion, Narrow mouth, High palate, Synophrys, Ptosis, Downslant... OMIM:259050
Plague
Skin ulcer, Glossitis, Dry skin, Conjunctival hyperemia, Inflammation of the large intestine, Ent... ORPHA:707
Glucagonoma
Intestinal obstruction, Steatorrhea, Stomatitis, Glossitis, Necrolytic migratory erythema ORPHA:97280
Goodpasture Syndrome
Pallor OMIM:233450
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Microphthalmia OMIM:309000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Ectopic anus, Anal atresia, Frontal bossing, Cleft upper lip, Epicanthus, Lon... ORPHA:93271
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus, Microphthalmia, Hypoplasia of the iris OMIM:175780
Microsporidiosis
Glossitis, Keratoconjunctivitis ORPHA:2552
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Brachycephaly, Cloverleaf skull, Microcephaly, Frontal bossing, Craniosynostosis, Anteriorly plac... OMIM:201750
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Smooth tongue, Abnormality of the dentition ORPHA:3206
Carney Complex
Esophageal neoplasm, Nodular changes affecting the eyelids, Abnormal hard palate morphology, Neop... 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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tmem209.

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

Order Mouse and ES Cells

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

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

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