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Gene: Tmem209 MGI:1919899

Gene Summary

Name:

transmembrane protein 209

Synonyms:

2700094F01Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E18.5

Images

77 Images

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Gross Pathology and Tissue Collection

Images

9 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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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Histopathology

Images

2 Images

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Immunophenotyping

Panel B FCS file(s)

3 Images

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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.

Human diseases associated with Tmem209 (0 diseases)
Human diseases predicted to be associated with Tmem209 (1482 diseases)

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

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

Disease	Matching phenotypes	Source
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Anencephaly 2	Short palpebral fissure, Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxilla...	OMIM:619452
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Chorioretinal coloboma, Anophthalmia, Orofacial cleft, Microphthalmia, ...	OMIM:611638
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	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	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Ankyloblepharon, Anophthalmia, Microphthalmia	ORPHA:85275
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619528
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:617960
Spermatogenic Failure 63	Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 32	Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Azoospermia, Male infertility	OMIM:619145
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Microcephaly-Microcornea Syndrome, Seemanova Type	Narrow mouth, Upslanted palpebral fissure, Epicanthus, Brachycephaly, Microcephaly, Microphthalmi...	ORPHA:2528
Microphthalmia/Coloboma 10	Iris coloboma, Anophthalmia, Chorioretinal coloboma, Microphthalmia	OMIM:616428
Fryns Microphthalmia Syndrome	Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Neural tube defect	OMIM:600776
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis	ORPHA:1646
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Oculocerebrocutaneous Syndrome	Eyelid coloboma, Anophthalmia, Orbital cyst, Orbital encephalocele, Microphthalmia, Cleft palate	OMIM:164180
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Cerebrooculonasal Syndrome	Sparse eyebrow, Long philtrum, Widely spaced teeth, Anophthalmia, Upslanted palpebral fissure, Mi...	ORPHA:66625
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	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	Anophthalmia, Microphthalmia	OMIM:251600
Microphthalmia/Coloboma 4	Coloboma, Orbital cyst, Microphthalmia	OMIM:251505
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo...	OMIM:301101
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Anophthalmia Plus Syndrome	Anophthalmia, Eyelid coloboma, Bilateral cleft palate, Spina bifida, Blepharophimosis, Iris colob...	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	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Hartsfield Syndrome	Downslanted palpebral fissures, Intrauterine growth retardation, Telecanthus, Encephalocele, Ptos...	ORPHA:2117
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Microphthalmia, Syndromic 8	Short palpebral fissure, Cleft upper lip, Premature skin wrinkling, Microcephaly, Orofacial cleft...	OMIM:601349
Meckel Syndrome, Type 8	Occipital encephalocele, Cleft upper lip, Anophthalmia, Encephalocele, Microcephaly, Microphthalm...	OMIM:613885
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Horizontal eyebrow, Dry skin, Gingival overgrowth, Thick eyebrow, Protruding tongue, Brachycephal...	OMIM:618797
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Skull asymmetry, Umbilical hernia, Secondary microcephaly, Intrauterine growth retar...	OMIM:612938
Non-Distal Duplication 10Q	Downslanted palpebral fissures, Microcephaly, Brachycephaly, Everted lower lip vermilion, Blephar...	ORPHA:1695
Adenocarcinoma Of The Esophagus	Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy, Esophageal carcinoma	ORPHA:99976
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microcephaly, Microphthalmia	OMIM:616335
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly, Dental crowding, Downslanted palpebral fissures, Protruding tongue, Submucous clef...	OMIM:618106
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Abnormal calvaria morphology, Median cleft palate, Microphthalmia	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	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Microphthalmia, Syndromic 16	Ankyloblepharon, Anophthalmia, Microphthalmia	OMIM:611038
Poirier-Bienvenu Neurodevelopmental Syndrome	Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth	OMIM:618732
Craniotelencephalic Dysplasia	Frontal bossing, Microcephaly, Hydrocephalus, Frontal encephalocele, Microphthalmia, Craniosynost...	ORPHA:1528
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Long eyelashes, Telecanthus, Thick eyebrow, Anophthalmia, Everted lower lip vermilion, Abnormal s...	ORPHA:411986
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Microphthalmia, Isolated 8	Short palpebral fissure, Retinal coloboma, True anophthalmia, Anophthalmia, Entropion, Microphtha...	OMIM:615113
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Sparse eyelashes, Epicanthus, High palate, Iris coloboma, U-Shaped u...	OMIM:605627
Ring Chromosome 22 Syndrome	Thick eyebrow, Protruding tongue, Epicanthus, Microcephaly, Thick vermilion border, Dolichocephaly	ORPHA:1446
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Microphthalmia, Syndromic 12	Intestinal malrotation, Anophthalmia, Cleft palate, Microphthalmia	OMIM:615524
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Microcephaly 26, Primary, Autosomal Dominant	Prominent eyelashes, Long philtrum, Trigonocephaly, Gingival overgrowth, Protruding tongue, Upsla...	OMIM:619179
Baraitser-Winter Syndrome 2	Highly arched eyebrow, Long philtrum, Secondary microcephaly, Trigonocephaly, Telecanthus, Thin u...	OMIM:614583
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Isochromosomy Yp	Azoospermia, Male infertility	ORPHA:98797
Solitary Median Maxillary Central Incisor	Cleft upper lip, Anophthalmia, Prominent median palatal raphe, Solitary median maxillary central ...	OMIM:147250
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Protruding tongue, Upslanted palpebral fissure, Microc...	OMIM:610253
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Abnormality of the dentition, Microphthalmia	OMIM:251700
Pierpont Syndrome	Widely spaced teeth, Telecanthus, Excessive wrinkling of palmar skin, Thin upper lip vermilion, S...	ORPHA:487825
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Congenital Disorder Of Glycosylation, Type Iia	Long philtrum, Diastema, Downslanted palpebral fissures, Macrodontia, Long eyelashes, Gingival ov...	OMIM:212066
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Frontal bossing, Cleft palate, Pierre-Robin sequence	OMIM:311895
Microphthalmia, Syndromic 13	Chorioretinal coloboma, Microcephaly, Ptosis, Microphthalmia, Iris coloboma, Widely-spaced incisors	OMIM:300915
Acrocallosal Syndrome	Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Epicanthus, Alveolar pr...	OMIM:200990
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Cerebrooculofacioskeletal Syndrome 3	Microcephaly, Intrauterine growth retardation, Cleft palate, Microphthalmia	OMIM:616570
Intellectual Developmental Disorder, Autosomal Dominant 26	Highly arched eyebrow, Short palpebral fissure, Umbilical hernia, Downslanted palpebral fissures,...	OMIM:615834
Joubert Syndrome 1	Highly arched eyebrow, Plagiocephaly, Chorioretinal coloboma, Optic disc coloboma, Occipital myel...	OMIM:213300
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Gastric varix, Hepatocellular carcinoma	OMIM:613490
Icf Syndrome	Umbilical hernia, Protruding tongue, Epicanthus, Macroglossia, Communicating hydrocephalus	ORPHA:2268
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Orofacial cleft, Coloboma, Hydrocephalus, Microphthalmia	ORPHA:324416
Facial Clefting, Oblique, 1	Coloboma, Cleft palate, Cleft upper lip, Microphthalmia	OMIM:600251
Raine Syndrome	Highly arched eyebrow, Plagiocephaly, Natal tooth, Brachyturricephaly, Downslanted palpebral fiss...	OMIM:259775
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Prostate canc...	ORPHA:157798
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Abnormality of the dentition, Conical tooth, Coronal craniosynostosis, Intrauterine growth retard...	ORPHA:228390
Adenylosuccinate Lyase Deficiency	Long philtrum, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Microcephaly, Flat occiput	ORPHA:46
Immunodeficiency 104	Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia	OMIM:608971
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Downslanted palpebral fissures, Thin eyebrow, Upper eyelid edema, Open mouth, Protruding tongue, ...	OMIM:617804
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten...	ORPHA:2978
Microphthalmia/Coloboma 7	Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia	OMIM:614497
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Chorioretinal coloboma, Cleft upper lip, Microphthalmia, Iris coloboma, Cleft palate	OMIM:120433
Hydrolethalus	Bifid uvula, Gingival cleft, Unilateral cleft lip, Anophthalmia, Submucous cleft hard palate, Hyd...	ORPHA:2189
Potocki-Shaffer Syndrome	Downturned corners of mouth, Parietal foramina, Downslanted palpebral fissures, Sparse lateral ey...	OMIM:601224
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Kleefstra Syndrome Due To 9Q34 Microdeletion	Highly arched eyebrow, Downturned corners of mouth, Protruding tongue, Microcephaly, Brachycephal...	ORPHA:96147
Angelman Syndrome	Widely spaced teeth, Secondary microcephaly, Protruding tongue, Brachycephaly, Macroglossia, Wide...	OMIM:105830
Clark-Baraitser Syndrome	Downturned corners of mouth, Long philtrum, Upslanted palpebral fissure, Exaggerated cupid's bow,...	OMIM:617752
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Angelman Syndrome Due To A Point Mutation	Cessation of head growth, Widely spaced teeth, Secondary microcephaly, Protruding tongue, Wide mo...	ORPHA:411511
Congenital Sialidosis Type 2	Umbilical hernia, Gingival overgrowth, Protruding tongue, Petechiae, Hypoplasia of the fovea, Hyd...	ORPHA:93400
Frontofacionasal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Limbal dermoid, Absent inner eyelashes, Encephalocele, Telecan...	ORPHA:1791
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Pierpont Syndrome	Widely spaced teeth, Unilateral narrow palpebral fissure, Telecanthus, Prominent median palatal r...	OMIM:602342
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Optic nerve hypoplasia, Downslanted palpebral fissures, Bicoronal sy...	OMIM:618736
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Brachyturricephaly, Cleft upper lip, Bilateral microphthalmos, Telecanthus, ...	OMIM:607597
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Mmep Syndrome	Median cleft upper lip, Microcephaly, Orofacial cleft, Microphthalmia	ORPHA:3434
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun...	OMIM:167730
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Oculotrichoanal Syndrome	Anal stenosis, Anteriorly placed anus, Cryptophthalmos, Anophthalmia, Upper eyelid coloboma, Naso...	ORPHA:2717
Trisomy 13	High, narrow palate, Abnormality of the dentition, Long philtrum, Intrauterine growth retardation...	ORPHA:3378
Craniotelencephalic Dysplasia	Craniosynostosis, Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Frontonasal Dysplasia 3	Sparse eyelashes, Brachycephaly, Upper eyelid coloboma, Absent eyebrow, Microphthalmia, Cleft palate	OMIM:613456
Down Syndrome	Narrow palate, Abnormality of the dentition, Macroglossia, Blepharitis, Downturned corners of mou...	ORPHA:870
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Gómez-López-Hernández Syndrome	Telecanthus, Turricephaly, Brachycephaly, Hydrocephalus, Thin vermilion border	ORPHA:1532
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Microphthalmia With Limb Anomalies	Short palpebral fissure, Cleft upper lip, Downslanted palpebral fissures, Anophthalmia, Deep phil...	OMIM:206920
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Pierre Robin Syndrome	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
2Q24 Microdeletion Syndrome	Downslanted palpebral fissures, Abnormal oral frenulum morphology, Coloboma, Microphthalmia, Shor...	ORPHA:1617
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Fontaine Progeroid Syndrome	Aplastic/hypoplastic lacrimal glands, Narrow mouth, Protruding tongue, Everted lower lip vermilio...	OMIM:612289
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Cessation of head growth, Widely spaced teeth, Secondary microcephaly, Protruding tongue, Wide mouth	ORPHA:98795
Cornelia De Lange Syndrome 2	Highly arched eyebrow, Downturned corners of mouth, Downslanted palpebral fissures, Intrauterine ...	OMIM:300590
Congenital Disorder Of Glycosylation, Type Iie	Short palpebral fissure, Intrauterine growth retardation, Narrow mouth, Protruding tongue, Excess...	OMIM:608779
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Leukocyte Adhesion Deficiency Type Ii	Umbilical hernia, Intrauterine growth retardation, Gingival overgrowth, Long eyelashes, Protrudin...	ORPHA:99843
Bartsocas-Papas Syndrome 2	Axillary pterygium, Ankyloblepharon, Popliteal pterygium, Prominent occiput, Bilateral cleft pala...	OMIM:619339
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility	OMIM:301060
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia	OMIM:619164
Temtamy Syndrome	Chorioretinal coloboma, Thick lower lip vermilion, Telecanthus, Abnormal palate morphology, Micro...	ORPHA:1777
Microphthalmia, Isolated 4	Coloboma, Microphthalmia	OMIM:613094
Developmental And Epileptic Encephalopathy 31B	Secondary microcephaly, Gingival overgrowth, Protruding tongue, Almond-shaped palpebral fissure, ...	OMIM:620352
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Developmental And Epileptic Encephalopathy 80	Long philtrum, Tented upper lip vermilion, Protruding tongue, Upslanted palpebral fissure, Smooth...	OMIM:618580
Braddock-Carey Syndrome 2	Downslanted palpebral fissures, Microcephaly, Microphthalmia, Wide mouth, Cleft palate, Pierre-Ro...	OMIM:619981
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anteriorly placed anus, Cryptophthalmos, Anophthalmia, Eyelid coloboma, Nasolacrim...	OMIM:248450
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Microphthalmia/Coloboma 3	Iris coloboma, Microphthalmia	OMIM:610092
Chromosome 3Pter-P25 Deletion Syndrome	Highly arched eyebrow, Downturned corners of mouth, Long philtrum, Trigonocephaly, Intrauterine g...	OMIM:613792
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Protruding tongue, Epicanthus	OMIM:242860
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Cessation of head growth, Widely spaced teeth, Secondary microcephaly, Protruding tongue, Wide mo...	ORPHA:98794
Congenital Varicella Syndrome	Microcephaly, Intrauterine growth retardation, Microphthalmia	ORPHA:291
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Craniosynostosis 6	Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal...	OMIM:616602
Ornithine Transcarbamylase Deficiency	Splenomegaly, Pyloric stenosis	ORPHA:664
Cat-Eye Syndrome	Chorioretinal coloboma, Downslanted palpebral fissures, Intrauterine growth retardation, Micropht...	ORPHA:195
Fetal Alcohol Syndrome	Intrauterine growth retardation, Telecanthus, Microdontia, Thin upper lip vermilion, Smooth philt...	ORPHA:1915
Microphthalmia With Brain And Digit Anomalies	Chorioretinal coloboma, Anophthalmia, Microcephaly, Microphthalmia, High palate, Iris coloboma	ORPHA:139471
Dermatitis, Atopic	Conjunctivitis, Dry skin, Facial erythema, Pallor	OMIM:603165
Proboscis Lateralis	Chorioretinal coloboma, Unilateral narrow palpebral fissure, Anophthalmia, Abnormal nasolacrimal ...	ORPHA:141099
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Brachyturricephaly, Protruding tongue, Redundant neck skin, Upslanted palpeb...	OMIM:214100
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Diastema, Umbilical hernia, Thick lower lip vermilion, Protruding tongue, Epicanthus, Microcephal...	OMIM:301040
Marshall-Smith Syndrome	Craniosynostosis, Gingival overgrowth, Open mouth, Protruding tongue	ORPHA:561
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Umbilical hernia, Protruding tongue, Thin upper lip vermilion, Epicanthus,...	OMIM:617062
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Congenital Heart Defects And Ectodermal Dysplasia	Widely spaced teeth, Dry skin, Premature loss of primary teeth, Microdontia, Microcephaly, Brachy...	OMIM:617364
Frontofacionasal Dysplasia	Bifid uvula, Cranium bifidum occultum, Hypoplasia of the frontal bone, Ankyloblepharon, Cleft upp...	OMIM:229400
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Plagiocephaly, Downslanted palpebral fissures, Epicanthus, Brachycephal...	OMIM:615433
8Q12 Microduplication Syndrome	Highly arched eyebrow, Long philtrum, Telecanthus, Narrow mouth, Epicanthus, Brachycephaly, Long ...	ORPHA:228399
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Frontonasal Dysplasia 2	Conical tooth, Short palpebral fissure, Sparse eyebrow, Parietal foramina, Widely spaced teeth, I...	OMIM:613451
Monosomy 18P	Tooth malposition, Carious teeth, Downturned corners of mouth, Hypodontia, Brachycephaly, Epicant...	ORPHA:1598
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Isochromosomy Yq	Azoospermia, Male infertility	ORPHA:98798
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Nabais Sa-De Vries Syndrome, Type 1	Highly arched eyebrow, Downslanted palpebral fissures, Long eyelashes, Telecanthus, Smooth philtr...	OMIM:618828
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Kleefstra Syndrome 2	Bifid uvula, Plagiocephaly, Thick eyebrow, Microcephaly, Everted lower lip vermilion	OMIM:617768
Juvenile Sialidosis Type 2	Gingival overgrowth, Protruding tongue, Umbilical hernia	ORPHA:93399
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Microphthalmia, Holop...	ORPHA:77298
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Downturned corners of mouth, Bilateral ptosis, Downslanted palpebral fissures, Brachycephaly, Dee...	OMIM:618859
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Median cleft palate, Median cleft upper l...	OMIM:136760
Nanophthalmos	Microphthalmia	ORPHA:35612
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Plagiocephaly, Long philtrum, Umbilical hernia, Aniridia, Anophthalmia, Doli...	ORPHA:1101
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Holoprosencephaly	Chorioretinal coloboma, Encephalocele, Anophthalmia, Epicanthus, Blepharophimosis, Microphthalmia...	ORPHA:2162
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Hypogonadism, Abnormal stomach morphology, Cryptorchidism, Testicular seminoma	ORPHA:281090
Aminopterin Syndrome Sine Aminopterin	Highly arched eyebrow, Umbilical hernia, Intrauterine growth retardation, Oligodontia, Microcepha...	OMIM:600325
Angelman Syndrome	Widely spaced teeth, Protruding tongue, Microcephaly, Ptosis, Wide mouth, Flat occiput	ORPHA:72
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Camptodactyly Syndrome, Guadalajara Type 1	Highly arched eyebrow, Dental malocclusion, Downturned corners of mouth, Open bite, Intrauterine ...	ORPHA:1327
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Developmental Delay With Variable Neurologic And Brain Abnormalities	Sparse lateral eyebrow, Widely spaced teeth, Upslanted palpebral fissure, Microdontia, Long palpe...	OMIM:619694
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Thick upper lip vermilion, Brachycephaly, Wide mouth, Thick lower lip vermilion	OMIM:309545
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Cleft upper lip, Widely spaced teeth, Downslanted palpebral fissures, Trigonoceph...	OMIM:612530
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Long philtrum, Thick lower lip vermilion, Downslanted palpebral fissures, Thin upper lip vermilio...	ORPHA:137634
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Bresek Syndrome	Plagiocephaly, Intrauterine growth retardation, Aganglionic megacolon, Microcephaly, Hydrocephalu...	ORPHA:85284
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Sandestig-Stefanova Syndrome	Highly arched eyebrow, Sparse medial eyebrow, Trigonocephaly, Intrauterine growth retardation, Ep...	OMIM:618804
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Coloboma, Microphthalmia	OMIM:274270
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Microcephaly, Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Chorioretinal coloboma, Bilateral cleft palate, Ptosis, Microphthalmia, Iris coloboma	ORPHA:1473
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thick upper lip vermilion, Narrow mouth, Short lingual frenulum, Epicanthus, Blepharophimosis, Sh...	OMIM:617360
Cockayne Syndrome Type 2	Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of the primary teeth, An...	ORPHA:90322
Trisomy 1Q	Downslanted palpebral fissures, Narrow mouth, Anophthalmia, Hydrocephalus, Anal atresia, Frontal ...	ORPHA:261344
Primary Lateral Sclerosis, Juvenile	Difficulty in tongue movements, Pallor	OMIM:606353
Biemond Syndrome Type 2	Coloboma, Hydrocephalus, Microphthalmia	ORPHA:141333
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Sparse eyebrow, Cleft lip, Downslanted palpebral fissures, Thick eyebrow, Upslanted palpebral fis...	OMIM:620098
Ritscher-Schinzel Syndrome 2	Intestinal malrotation, Upslanted palpebral fissure, Protruding tongue, High palate, Short philtrum	OMIM:300963
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Microcephaly, Hydrocephalus, Microphthalmia, Meni...	OMIM:611134
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Nanophthalmos 4	Microphthalmia	OMIM:615972
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Smooth philtrum, Protruding tongue, Everted lower lip vermilion	ORPHA:324410
Acute Myelomonocytic Leukemia	Abnormality of the gingiva, Pallor	ORPHA:517
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Joubert Syndrome 15	Coloboma, Exencephaly	OMIM:614464
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Short palpebral fissure, Abnormal lip morphology, Thin eyebrow, Abnormal upp...	ORPHA:2707
Baraitser-Winter Syndrome 1	Iris coloboma, Highly arched eyebrow, Long philtrum, Cleft upper lip, Chorioretinal coloboma, Tri...	OMIM:243310
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Plagiocephaly, Horizontal eyebrow, Downturned corners of mouth, Bilateral microphthalmos, Umbilic...	ORPHA:369891
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Secondary microcephaly, Redundant neck skin, Smooth philtrum, Epican...	OMIM:618652
Microphthalmia, Syndromic 5	Anophthalmia, Coloboma, Microphthalmia, Cleft palate, Optic nerve hypoplasia	OMIM:610125
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Microphthalmia, Anencephaly, Cleft palate	OMIM:611561
Ring Chromosome 10 Syndrome	Long philtrum, Downslanted palpebral fissures, Intrauterine growth retardation, Aganglionic megac...	ORPHA:1438
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Synophrys, Plagiocephaly, Dental crowding, Frontal bossing	OMIM:619264
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Highly arched eyebrow, Downturned corners of mouth, Long philtrum, Downslanted palpe...	ORPHA:404440
X-Linked Dystonia-Parkinsonism	Blepharospasm, Protruding tongue	ORPHA:53351
Intellectual Developmental Disorder, Autosomal Dominant 23	Dental crowding, Downturned corners of mouth, Long philtrum, Downslanted palpebral fissures, Upsl...	OMIM:615761
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	Protruding tongue, Microphthalmia, High palate, Plagiocephaly, Abnormal eyebrow morphology, Long ...	OMIM:619488
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp...	OMIM:602450
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Cofs Syndrome	Microcephaly, Intrauterine growth retardation, Everted lower lip vermilion, Microphthalmia	ORPHA:1466
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Meckel Syndrome, Type 2	Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningoce...	OMIM:603194
Richieri-Costa/Guion-Almeida Syndrome	Cleft upper lip, Downslanted palpebral fissures, Eyelid coloboma, Palmoplantar cutis laxa, Brachy...	OMIM:268850
Xk Aprosencephaly Syndrome	Microcephaly, Anal atresia, Narrow mouth, Microphthalmia	ORPHA:3469
Cebalid Syndrome	Highly arched eyebrow, Plagiocephaly, Platystencephaly, Downslanted palpebral fissures, Thick eye...	OMIM:618774
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Intellectual Developmental Disorder, Autosomal Dominant 74	Downslanted palpebral fissures, Intrauterine growth retardation, Thin upper lip vermilion, Smooth...	OMIM:620688
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Highly arched eyebrow, Plagiocephaly, Downturned corners of mouth, Ectopic anus, Short philtrum, ...	ORPHA:94066
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co...	OMIM:613101
Fanconi Anemia, Complementation Group S	Dental malocclusion, Thick upper lip vermilion, Macrodontia, Long eyelashes, Upslanted palpebral ...	OMIM:617883
Whistling Face Syndrome, Recessive Form	Whistling appearance, Short palpebral fissure, Microglossia, Long philtrum, Telecanthus, Narrow m...	OMIM:277720
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Nodular goiter, Co...	ORPHA:97290
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Downslanted palpebral fissures, Thin upper lip vermilion, Brachycephaly, Craniosynostosis, High p...	ORPHA:314575
Vulto-Van Silfhout-De Vries Syndrome	Horizontal eyebrow, Thick lower lip vermilion, Tented upper lip vermilion, Upslanted palpebral fi...	OMIM:615828
Chopra-Amiel-Gordon Syndrome	Cleft lip, Upslanted palpebral fissure, Almond-shaped palpebral fissure, Thin upper lip vermilion...	OMIM:619504
Plummer-Vinson Syndrome	Narrow mouth, Pallor, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue ...	ORPHA:54028
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Downslanted palpebral fissures, Smooth philtrum, Epicanthus, Hydrocephalus, Microphthalmia	OMIM:602501
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Horizontal eyebrow, Downturned corners of mouth, Thin upper lip vermilion, Epicanthus, Brachyceph...	ORPHA:352530
Walker-Warburg Syndrome	Bifid uvula, Anophthalmia, Submucous cleft hard palate, Microcephaly, Hydrocephalus, Microphthalm...	ORPHA:899
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Downslanted palpebral fissures, Intrauterine growth retardation, Open mouth, Thin ...	OMIM:616801
Hallermann-Streiff Syndrome	Natal tooth, Chorioretinal coloboma, Dry skin, Narrow mouth, Sparse eyelashes, Everted lower lip ...	OMIM:234100
Xeroderma Pigmentosum, Complementation Group G	Microcephaly, Microphthalmia	OMIM:278780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Microcephaly, Hydrocephalus, Microphthalmia	OMIM:613155
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Cornelia De Lange Syndrome 5	Highly arched eyebrow, Downturned corners of mouth, Long philtrum, Widely spaced teeth, Long eyel...	OMIM:300882
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
6Q25 Microdeletion Syndrome	Plagiocephaly, Long philtrum, Downslanted palpebral fissures, Upslanted palpebral fissure, Epican...	ORPHA:251056
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Long philtrum, Cryptophthalmos, Long eyelashes, Anophthalmia, Epicanthus, Coloboma, Microphthalmia	OMIM:615877
Nasopalpebral Lipoma-Coloboma Syndrome	Hamartoma of the orbital region, Sparse eyebrow, Bilateral microphthalmos, Lacrimal punctal atres...	ORPHA:2399
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Downturned corners of mouth, Microphthalmia, Short philtrum, Platybasia, Frontal bossing, Cloverl...	ORPHA:93267
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Potocki-Shaffer Syndrome	Downturned corners of mouth, Parietal foramina, Epicanthus, Brachycephaly, Short philtrum	ORPHA:52022
Sporadic Fetal Brain Disruption Sequence	Microcephaly, Plagiocephaly, Prominent occiput	ORPHA:1665
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Long philtrum, Thick lower lip vermilion, Downslanted palpebral fissures, Upslanted palpebral fis...	OMIM:152950
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility	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, Goiter, Chronic noninfectious lymphadenopathy, Nodular goiter, Co...	ORPHA:319487
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Long philtrum, Long eyelashes, Unilambdoid synostosis, Brachycephaly, Hydrocephalu...	OMIM:618577
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Downturned corners of mouth, Long philtrum, Anterior plagiocephaly, Epicanthus, Brachycephaly, Lo...	ORPHA:163649
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno...	ORPHA:79301
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Iris coloboma, Microphthalmia	OMIM:610023
Holoprosencephaly 9	Alobar holoprosencephaly, Anophthalmia, Bilateral cleft palate, Short hard palate, Epicanthus, Mi...	OMIM:610829
Squamous Cell Carcinoma Of The Anal Canal	Intestinal bleeding, Anal stenosis, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ...	ORPHA:424019
Joubert Syndrome 14	Highly arched eyebrow, Downslanted palpebral fissures, Open mouth, Encephalocele, Tented upper li...	OMIM:614424
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Deafness, X-Linked 7	Ptosis, Unilateral microphthalmos, Thick eyebrow, Telecanthus	OMIM:301018
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Ptosis, Pallor	OMIM:613561
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microcephaly, Intrauterine growth retardation, Microphthalmia	OMIM:616171
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100024
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Holoprosencephaly 7	Alobar holoprosencephaly, Bilateral cleft palate, Microphthalmia, Holoprosencephaly, Iris colobom...	OMIM:610828
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
3Q29 Microduplication Syndrome	Abnormality of the dentition, Iris coloboma, Downslanted palpebral fissures, Aniridia, Microcepha...	ORPHA:251038
Pontocerebellar Hypoplasia, Type 3	High, narrow palate, Downturned corners of mouth, Long philtrum, Long palpebral fissure, Brachyce...	OMIM:608027
Craniodigital-Intellectual Disability Syndrome	Long eyelashes, Spina bifida occulta, Brachycephaly, Thick eyebrow	ORPHA:1514
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Skin Creases, Congenital Symmetric Circumferential, 1	Short palpebral fissure, Long philtrum, Narrow mouth, Upslanted palpebral fissure, Epicanthus, Br...	OMIM:156610
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short palpebral fissure, Downslanted palpebral fissures, Intrauterine growth retardation, Open mo...	OMIM:613604
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Microcephaly, Protruding tongue	OMIM:619580
Stevenson-Carey Syndrome	Downturned corners of mouth, Downslanted palpebral fissures, Narrow mouth, Brachycephaly, Colobom...	OMIM:611961
2Q32Q33 Microdeletion Syndrome	Dental crowding, Long philtrum, Downslanted palpebral fissures, Narrow mouth, Oligodontia, Microc...	ORPHA:251019
Warburg Micro Syndrome 1	Narrow mouth, Microcephaly, Ptosis, Microphthalmia, Thin vermilion border	OMIM:600118
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Long philtrum, Downslanted palpebral fissures, Tented upper lip vermilion, Epicanthus, Microcepha...	OMIM:614105
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man...	OMIM:614669
Developmental And Epileptic Encephalopathy 100	Short palpebral fissure, Gingival overgrowth, Tented upper lip vermilion, Protruding tongue, Micr...	OMIM:619777
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, Intestinal l...	ORPHA:397596
Gm1-Gangliosidosis, Type Ii	Gingival overgrowth, Narrow mouth, Protruding tongue	OMIM:230600
Breath-Holding Spells	Pallor	OMIM:607578
Coproporphyria, Hereditary	Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyrin III:coproporphyrin...	OMIM:121300
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix	ORPHA:75234
Fetal Trimethadione Syndrome	Intrauterine growth retardation, Epicanthus, Brachycephaly, Ptosis, Microcephaly, High palate, Sy...	ORPHA:1913
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility	OMIM:277180
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Down Syndrome	Duodenal stenosis, Protruding tongue, Redundant neck skin, Upslanted palpebral fissure, Aganglion...	OMIM:190685
Temtamy Syndrome	Iris coloboma, Highly arched eyebrow, Dental crowding, Long philtrum, Chorioretinal coloboma, Dow...	OMIM:218340
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, High palate, Cleft palate, Tooth agenesis	ORPHA:1135
Cataract 9, Multiple Types	Iris coloboma, Microphthalmia	OMIM:604219
Developmental And Epileptic Encephalopathy 65	Highly arched eyebrow, Plagiocephaly, Tented upper lip vermilion, Microcephaly	OMIM:618008
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly, Coloboma, Anal atresia, Unilat...	OMIM:619318
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Bifid uvula, Cleft lip, Plagiocephaly, Downturned corners of mouth, Long philtrum, Downslanted pa...	OMIM:618089
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cleft lip, Horizontal eyebrow, Downturned corners of mouth, Long philtrum, Retinal coloboma, Epic...	OMIM:618571
Frontorhiny	Cranium bifidum occultum, Encephalocele, Basal encephalocele, Epicanthus, Ptosis, Microphthalmia,...	ORPHA:391474
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Short palpebral fissure, Dental malocclusion,...	OMIM:257850
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Long philtrum, Downslanted palpebral fissures, Encephalocele, Exencephaly, Eyelid coloboma, Brach...	ORPHA:2211
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Fraser Syndrome 1	Difficulty in tongue movements, Dental malocclusion, Dental crowding, Cleft upper lip, Bilateral ...	OMIM:219000
Blepharophimosis-Impaired Intellectual Development Syndrome	Highly arched eyebrow, Sparse eyebrow, Plagiocephaly, Dental malocclusion, Widely spaced teeth, F...	OMIM:619293
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Upslanted palpebral fissure, Brachycephaly, Ptosis, Wide mouth, Synophrys	OMIM:616083
Seckel Syndrome 2	Microglossia, Microdontia, Microcephaly, Primary microcephaly, Microphthalmia	OMIM:606744
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Plagiocephaly, Frontal bossing, Open mouth, Upslanted palpebral fissure, Brachycephaly, Coloboma,...	OMIM:616789
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Craniosynostosis, Brachycephaly	ORPHA:178377
Blepharocheilodontic Syndrome 1	Conical tooth, Cleft upper lip, Lagophthalmos, Hypodontia, Euryblepharon, Distichiasis, Ectropion...	OMIM:119580
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly, Downturned corners of mouth, Tooth agenesis, Macrodontia, Microcephaly, Ptosis, Sh...	OMIM:618731
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Oligodontia, Thin upper lip vermilion, Long palpebral fissure, Frontal bossing	OMIM:618330
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Skin ulcer, Long philtrum, Dry skin, Thick vermilion border, Anophthalmia, Upslanted palpebral fi...	ORPHA:2526
Crouzon Syndrome	Iris coloboma, Multiple suture craniosynostosis, Turricephaly, Brachycephaly, Ptosis, Hydrocephal...	ORPHA:207
Vacterl With Hydrocephalus	Intrauterine growth retardation, Anophthalmia, Tracheoesophageal fistula, Esophageal atresia, Spi...	ORPHA:3412
Lissencephaly 8	Microcephaly, Occipital encephalocele, Microphthalmia	OMIM:617255
Hemochromatosis, Type 2B	Hepatic fibrosis, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly	OMIM:613313
Chromosome 13Q33-Q34 Deletion Syndrome	Cleft lip, Delayed eruption of teeth, Anteriorly placed anus, Trigonocephaly, Gingival overgrowth...	OMIM:619148
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Short palpebral fissure, Microglossia, Thin eyebrow, Intrauterine growth r...	ORPHA:364577
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Blepharophimosis, Horner syndrome, Tongue atrophy...	OMIM:141300
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Brachycephaly, Occipital encephalocele	OMIM:614416
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Umbilical hernia, Open mouth, Tented upper lip vermilion, Upslanted palpebral fiss...	OMIM:616579
Optic Atrophy 1	Pallor	OMIM:165500
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Cryptophthalmos, Ankyloblepharon, Microphthalmia	OMIM:123570
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Furrowed tongue, Microcephaly, Brachycephaly, Everted lower lip vermilion, Hig...	ORPHA:1387
German Syndrome	Downslanted palpebral fissures, Abnormal eyebrow morphology, Open mouth, Brachycephaly, Orofacial...	ORPHA:2077
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Oligozoospermia, Male infertility	ORPHA:48
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Intellectual Developmental Disorder, X-Linked 1	Secondary microcephaly, Brachycephaly	OMIM:309530
Congenital Disorder Of Glycosylation, Type Iq	Dry skin, Brachycephaly, Cutis laxa, Coloboma, Microphthalmia	OMIM:612379
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly, Anal atresia, Microcephaly, Upslanted palpebral fissure	ORPHA:93950
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Primary microcephaly, Microphthalmia	OMIM:615771
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Catel-Manzke Syndrome	Highly arched eyebrow, Oral synechia, Glossoptosis, Cleft palate	ORPHA:1388
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Intrauterine growth retardation, Microdontia, Microcephaly, Ptosis, Blepharo...	ORPHA:2728
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ...	OMIM:300635
Congenital Toxoplasmosis	Microcephaly, Intrauterine growth retardation, Hydrocephalus, Microphthalmia	ORPHA:858
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Thick lower lip vermilion, Wide mouth, Open mouth, Protruding tongue, Tented upper lip vermilion,...	OMIM:309580
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Long philtrum, Umbilical hernia, Turricephaly, Brachycephaly, Hydrocephalus, Blepharophimosis, Th...	ORPHA:171839
Coffin-Siris Syndrome 6	High, narrow palate, Plagiocephaly, Downslanted palpebral fissures, Epicanthus, Deep philtrum, Na...	OMIM:617808
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Downslanted palpebra...	OMIM:620107
Matthew-Wood Syndrome	Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis	ORPHA:2470
Linear Skin Defects With Multiple Congenital Anomalies 2	Highly arched eyebrow, Microcephaly, Long philtrum, Microphthalmia	OMIM:300887
Al Kaissi Syndrome	High, narrow palate, Long philtrum, Downslanted palpebral fissures, Macrodontia, Intrauterine gro...	OMIM:617694
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Brachycephaly	OMIM:620200
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Chromosome 5P13 Duplication Syndrome	Short palpebral fissure, Downturned corners of mouth, Upslanted palpebral fissure, Turricephaly, ...	OMIM:613174
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Plagiocephaly, Downturned corners of mouth, Prominent occiput, Upslanted palpebral fissure, Brach...	OMIM:618672
Fanconi Anemia, Complementation Group G	Microcephaly, Microphthalmia	OMIM:614082
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Achondrogenesis, Type Ia	Protruding tongue, Turricephaly	OMIM:200600
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Splenome...	ORPHA:131
Meckel Syndrome	Aplasia/Hypoplasia of the tongue, Furrowed tongue, Encephalocele, Anophthalmia, Aplasia/Hypoplasi...	ORPHA:564
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly, Telecanthus, Thick vermilion border	OMIM:619927
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc...	ORPHA:263665
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Dental malocclusion, Downslanted palpebral fissures, Bra...	OMIM:602849
Lessel-Kreienkamp Syndrome	Plagiocephaly, Dental malocclusion, Scaphocephaly, Open mouth, Upslanted palpebral fissure, Thin ...	OMIM:619149
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Highly arched eyebrow, Delayed eruption of teeth...	ORPHA:2712
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	OMIM:620010
Craniofrontonasal Dysplasia	Abnormality of the dentition, Plagiocephaly, Downslanted palpebral fissures, Microcephaly, Orofac...	ORPHA:1520
Gaucher Disease Type 2	Hepatomegaly, Dysphagia, Splenomegaly	ORPHA:77260
Peroxisomal Acyl-Coa Oxidase Deficiency	Epicanthus, Brachycephaly, Frontal bossing	OMIM:264470
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Anophthalmia, Submucous c...	ORPHA:2250
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Highly arched eyebrow, Velopharyngeal insufficiency, Long philtrum, Skull asymmetry, Intestinal m...	OMIM:614701
Developmental And Epileptic Encephalopathy 1	Microcephaly, Plagiocephaly, Microphthalmia	OMIM:308350
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Frontal bossing, Intrauterine growth retardation, Hydrocephalus, Microphthalmia, Short philtrum, ...	ORPHA:163966
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Sparse eyebrow, Plagiocephaly, Downturned corners of mouth, Long philtrum, Frontal bossing, Downs...	OMIM:619720
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip, Microphthalmia	OMIM:614402
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Tooth malposition, Plagiocephaly, Microcephaly, Brachycephaly, High palate, Cleft palate	OMIM:618603
Wolman Disease	Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells, Esophageal varix, Steatorrhea	ORPHA:75233
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Retinal coloboma, Hydrocephalus, Microphthalmia	OMIM:601794
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal palate morphology, Turricephaly, Brachycephaly, Ptosis, Hydrocephalus, Frontal bossing	ORPHA:93262
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Developmental And Epileptic Encephalopathy 84	Short palpebral fissure, Plagiocephaly, Thick lower lip vermilion, Smooth philtrum, Epicanthus, P...	OMIM:618792
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Malan Overgrowth Syndrome	Plagiocephaly, Optic disc hypoplasia, Downslanted palpebral fissures, Scaphocephaly, Narrow mouth...	ORPHA:420179
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Highly arched eyebrow, Plagiocephaly, Umbilical hernia, Downslanted palpebra...	OMIM:613776
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Abnormally large globe, Plagiocephaly, Downturned corners of mouth, Cleft ...	OMIM:239300
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Downslanted palpebral fissures, Telecanthus, Narrow mouth, Brachy...	OMIM:615539
Desmoplastic Small Round Cell Tumor	Ascites, Ileus, Anemia, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hep...	ORPHA:83469
Arthrogryposis And Ectodermal Dysplasia	Trichiasis, Cleft upper lip, Abnormal dental enamel morphology, Dry skin, Oligodontia, Microcepha...	OMIM:601701
Holoprosencephaly-Craniosynostosis Syndrome	Short palpebral fissure, Plagiocephaly, Upslanted palpebral fissure, Epicanthus, Brachycephaly, M...	ORPHA:2163
17Q12 Microduplication Syndrome	Synophrys, Tracheoesophageal fistula, Cleft palate, Microphthalmia	ORPHA:261272
3P25.3 Microdeletion Syndrome	High, narrow palate, Downturned corners of mouth, Downslanted palpebral fissures, Thin upper lip ...	ORPHA:435638
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Meckel diverticulum, Trigonocephaly, Intrauterine growth retardation,...	OMIM:616395
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatospleno...	OMIM:618935
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly, Intestinal malrotation, Microcephaly, Orofacial cleft, Deep philtrum, Incomplete c...	ORPHA:77300
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Plagiocephaly, Upslanted palpebral fissure, Thin upper lip vermilion, Microcephaly, Brachycephaly...	OMIM:618862
14Q22Q23 Microdeletion Syndrome	Downturned corners of mouth, Downslanted palpebral fissures, Optic nerve aplasia, Anophthalmia, E...	ORPHA:264200
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Pallor, Microcephaly, Microphthalmia, Optic nerve hypoplasia	OMIM:609053
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Downsla...	OMIM:157980
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Glossoptosis, Cleft palate	ORPHA:3104
Cyclic Vomiting Syndrome	Microcephaly, Pallor	OMIM:500007
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Microcephaly, Brachycephaly, Dental crowding	ORPHA:320385
2Q23.1 Microdeletion Syndrome	Highly arched eyebrow, Macrodontia, Tented upper lip vermilion, Open mouth, Microcephaly, Brachyc...	ORPHA:228402
Fanconi Anemia, Complementation Group J	Intrauterine growth retardation, Microphthalmia	OMIM:609054
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Intrauterine growth retardation, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Microc...	OMIM:615419
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Curry-Jones Syndrome	Iris coloboma, Anal stenosis, Lip pit, Intestinal pseudo-obstruction, Unicoronal synostosis, Inte...	OMIM:601707
Deafness-Craniofacial Syndrome	Abnormality of the dentition, Short lingual frenulum, Upslanted palpebral fissure, Abnormal palat...	ORPHA:3241
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate...	OMIM:616860
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Treacher-Collins Syndrome	Open bite, Narrow mouth, Encephalocele, Absent eyelashes, Microphthalmia, High palate, Rectovagin...	ORPHA:861
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab...	OMIM:601847
Joubert Syndrome 22	Intrauterine growth retardation, Coloboma, Microphthalmia	OMIM:615665
Myoclonic-Astatic Epilepsy	Long philtrum, Thick lower lip vermilion, Premature skin wrinkling, Thin upper lip vermilion, Mic...	ORPHA:1942
Fraser Syndrome	Anal stenosis, Dental malocclusion, Dental crowding, Cleft upper lip, Umbilical hernia, Myelomeni...	ORPHA:2052
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Long philtrum, Dry skin, Tented upper lip vermilion, Thin upper lip vermil...	OMIM:619244
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Short palpebral fissure, Long philtrum, Downslanted palpebral fissures, Intr...	OMIM:612513
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Highly arched eyebrow, Long philtrum, Downslanted palpebral fissures, Intrauterine growth retarda...	OMIM:617452
Microphthalmia, Syndromic 2	Anophthalmia, Laterally curved eyebrow, Blepharophimosis, Microphthalmia, Iris coloboma, Submucou...	OMIM:300166
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Intellectual Developmental Disorder, Autosomal Dominant 48	Highly arched eyebrow, Plagiocephaly, Umbilical hernia, Intrauterine growth retardation, Open mou...	OMIM:617751
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Parietal foramina, Rectour...	OMIM:603116
Jacobsen Syndrome	Nasolacrimal duct obstruction, Flat occiput, Chorioretinal coloboma, Trigonocephaly, Intrauterine...	OMIM:147791
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Posterior lentic...	ORPHA:231736
Spermatogenic Failure 28	Non-obstructive azoospermia, Male infertility	OMIM:618086
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Trisomy 20P	Epicanthus, Everted lower lip vermilion, Blepharophimosis, Plagiocephaly, Downturned corners of m...	ORPHA:261318
Noonan Syndrome 13	Highly arched eyebrow, Plagiocephaly, Long philtrum, Widely spaced teeth, Downslanted palpebral f...	OMIM:619087
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Acrofrontofacionasal Dysostosis 1	Cleft upper lip, Long eyelashes, Oligodontia, Brachycephaly, Ptosis, Microphthalmia, Long eyebrow...	OMIM:201180
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Open mouth, Protruding tongue	ORPHA:258
Leishmaniasis	Abnormal oral mucosa morphology, Abnormal oral cavity morphology, Pallor, Skin ulcer	ORPHA:507
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short palpebral fissure, Microglossia, Exaggerated median tongue furrow, Long philtrum, Thin eyeb...	OMIM:608670
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Microcephaly, High palate, Pallor, Distichiasis	OMIM:600462
Blomstrand Lethal Chondrodysplasia	Telecanthus, Natal tooth, Protruding tongue, Long philtrum	ORPHA:50945
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Ankyloglossia, Unilateral microphthalmos, Bilateral cleft palate, Thin upper lip ...	OMIM:618874
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc...	OMIM:615234
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Microcephaly, Brachycephaly, Dental crowding	OMIM:615031
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Frontal bossing, Duodenal stenosis	ORPHA:2547
Houge-Janssens Syndrome 3	Plagiocephaly, Umbilical hernia, Epicanthus, Microcephaly, High palate, Short philtrum, Frontal b...	OMIM:618354
Muenke Syndrome	High, narrow palate, Coronal craniosynostosis, Plagiocephaly, Brachycephaly, Ptosis, Hydrocephalus	ORPHA:53271
Oculopalatocerebral Syndrome	Microcephaly, Remnants of the hyaloid vascular system, Cleft palate, Microphthalmia	OMIM:257910
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
Rere-Related Neurodevelopmental Syndrome	Iris coloboma, Chorioretinal coloboma, Intrauterine growth retardation, Epicanthus, Broad eyebrow...	ORPHA:494344
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Microcephaly, Coloboma, Esophageal atresia, Microphthalmia, Fr...	OMIM:206900
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Brachycephaly, Hydrocephalus	OMIM:612247
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Plagiocephaly, Intestinal malrotation, Esophagitis, Anophthalmia, Perineal fistula,...	ORPHA:2538
Acrofrontofacionasal Dysostosis	Downslanted palpebral fissures, Eyelid coloboma, Brachycephaly, Ptosis, Everted lower lip vermili...	ORPHA:1784
Craniosynostosis 2	Unicoronal synostosis, Trigonocephaly, Cleft soft palate, Bicoronal synostosis, Turricephaly, Bra...	OMIM:604757
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Long philtrum, Umbilical hernia, Frontal bossing, Intrauterine growth retardation, Thick eyebrow,...	ORPHA:1292
Marden-Walker Syndrome	High, narrow palate, Long philtrum, Intrauterine growth retardation, Narrow mouth, Epicanthus, Mi...	OMIM:248700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Cockayne Syndrome Type 1	Abnormality of the dentition, Widely spaced primary teeth, Hypoplasia of the primary teeth, Anoph...	ORPHA:90321
Chromosome 17Q12 Duplication Syndrome	Downslanted palpebral fissures, Cleft soft palate, Smooth philtrum, Esophageal atresia, Microphth...	OMIM:614526
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes...	ORPHA:193
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Hydrocephalus, Dolichocephaly	ORPHA:272
Teebi-Shaltout Syndrome	High, narrow palate, Highly arched eyebrow, Prominent palatine ridges, Scaphocephaly, Telecanthus...	OMIM:272950
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Splenomegaly,...	OMIM:616100
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Auriculocondylar Syndrome 4	Glossoptosis, Narrow mouth, Cleft palate	OMIM:620457
Dubin-Johnson Syndrome	Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome...	ORPHA:234
Acrofrontofacionasal Dysostosis 2	Downslanted palpebral fissures, Redundant neck skin, Microcephaly, Brachycephaly, Ptosis, High pa...	OMIM:239710
Microphthalmia/Coloboma 9	Long philtrum, Ptosis, Narrow palpebral fissure, Microphthalmia, Iris coloboma, Macular coloboma	OMIM:615145
Chromosome 6Pter-P24 Deletion Syndrome	Short palpebral fissure, Dental crowding, Cleft upper lip, Umbilical hernia, Downslanted palpebra...	OMIM:612582
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Harderoporphyria	Increased fecal harderoporphyrin, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal...	OMIM:618892
Warburg Micro Syndrome 4	Long philtrum, Secondary microcephaly, Narrow mouth, Brachycephaly, Ptosis, Microphthalmia	OMIM:615663
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Intrauterine growth retardation, Long eyelashes, Tented upper lip vermilion, Thick...	OMIM:619833
Hemochromatosis, Type 2A	Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Hepatomegaly	OMIM:602390
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sparse eyebrow, Widely spaced teeth, Downslanted palpebral fissures, Trigonocephaly, Scaphocephal...	ORPHA:459061
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Microcephaly, Coloboma, Hydrocephalus, Microphthalmia, Macroglossia, Opt...	ORPHA:370959
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Intrauterine growth retardation, Frontal bossing, Hydrocephalus, Microphthalmia	OMIM:300863
Blepharophimosis, Ptosis, And Epicanthus Inversus	Highly arched eyebrow, Telecanthus, Microcephaly, Ptosis, Blepharophimosis, Narrow palpebral fiss...	OMIM:110100
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, Upslanted palpebral fissure, Thin upper lip vermilion, Smooth philtrum, Short phil...	OMIM:619188
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Desanto-Shinawi Syndrome	Downturned corners of mouth, Thick eyebrow, Thin upper lip vermilion, Brachycephaly, Synophrys	OMIM:616708
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor...	ORPHA:2494
Inverted Duplicated Chromosome 15 Syndrome	Downslanted palpebral fissures, Epicanthus, Brachycephaly, Microcephaly, High palate, Short philt...	ORPHA:3306
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Microcephaly, Plagiocephaly, Downslanted palpebral fissures	OMIM:614563
Distal Deletion 3P	Downturned corners of mouth, Long philtrum, Umbilical hernia, Intrauterine growth retardation, Te...	ORPHA:1620
Pentasomy X	Microcephaly, Plagiocephaly, Upslanted palpebral fissure	ORPHA:11
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Highly arched eyebrow, Long philtrum, Downslanted palpebral fissures, Intrauterine growth retarda...	ORPHA:505237
Myasthenic Syndrome, Congenital, 10	Ptosis, Tongue atrophy	OMIM:254300
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Highly arched eyebrow, Intrauterine growth retardation, Upslanted palpebral fissure, Microcephaly...	OMIM:618142
Basel-Vanagaite-Smirin-Yosef Syndrome	Downslanted palpebral fissures, Furrowed tongue, Tented upper lip vermilion, Epicanthus, Microcep...	OMIM:616449
Orofaciodigital Syndrome V	Bifid uvula, Optic disc coloboma, Downslanted palpebral fissures, Hamartoma of tongue, Ankyloglos...	OMIM:174300
Multiple Benign Circumferential Skin Creases On Limbs	Long philtrum, Umbilical hernia, Epicanthus, Microcephaly, Microphthalmia, Cleft palate	ORPHA:2505
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Fg Syndrome Type 1	Abnormal large intestine morphology, Dental crowding, Optic nerve hypoplasia, Long philtrum, Umbi...	ORPHA:93932
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Rieger anomaly, Brachycephaly, Hydrocephalus, Absent extraocular muscles	OMIM:109120
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Iris coloboma, Lip pit, Telecanthus, Abnormal palate morphology, Hypodontia, Brachycephaly, Micro...	ORPHA:1236
Ritscher-Schinzel Syndrome 1	Downslanted palpebral fissures, Intrauterine growth retardation, Prominent occiput, Brachycephaly...	OMIM:220210
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, Delayed eruption of teeth, Facial hyperostosis, Submucous cleft...	ORPHA:2780
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Downslanted palpebral fissure...	ORPHA:1790
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Joubert Syndrome 37	High palate, Ptosis, Frontal bossing, Microphthalmia	OMIM:619185
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue, Ptosis	ORPHA:2743
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Secondary microcephaly, High palate, Plagiocephaly, Downturned corners of mouth, Hooded eyelid, L...	OMIM:610759
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Dental crowding, Brachycephaly, Sagittal c...	OMIM:123500
Kury-Isidor Syndrome	Long philtrum, Widely spaced teeth, Downslanted palpebral fissures, Tented upper lip vermilion, T...	OMIM:619762
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Plagiocephaly, Sparse lateral eyebrow, Agenesis of permanent teeth, Intrau...	OMIM:618644
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Cerebrooculofacioskeletal Syndrome 1	Carious teeth, Delayed eruption of teeth, Long philtrum, Microcephaly, Blepharophimosis, Micropht...	OMIM:214150
Microcephaly-Micromelia Syndrome	Short palpebral fissure, Intrauterine growth retardation, Narrow mouth, Microcephaly, Microphthal...	OMIM:251230
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microcephaly, Microphthalmia	OMIM:251270
Rhizomelic Limb Shortening With Dysmorphic Features	Smooth philtrum, Plagiocephaly, Long philtrum, Downslanted palpebral fissures	OMIM:618821
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Iris coloboma, Optic disc coloboma, Microphthalmia	OMIM:169550
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Unilateral cleft lip, Microcephaly, Brachycephaly, Ptosis, Flat occiput	ORPHA:2511
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Williams-Beuren Region Duplication Syndrome	Horizontal eyebrow, Diastema, Long eyelashes, Brachycephaly, Hydrocephalus, High palate, Short ph...	OMIM:609757
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Trisomy 18	Narrow palate, Iris coloboma, Cyclopia, Intrauterine growth retardation, Prominent occiput, Narro...	ORPHA:3380
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly	OMIM:300699
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Warburg Micro Syndrome 3	Downturned corners of mouth, Secondary microcephaly, Microcephaly, Brachycephaly, Blepharophimosi...	OMIM:614222
Lig4 Syndrome	Erythema, Telecanthus, Upslanted palpebral fissure, Epicanthus, Brachycephaly, Microcephaly, Thin...	ORPHA:99812
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618495
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly, Tented upper lip vermilion, Microcephaly, Ptosis, High palate	OMIM:620149
8Q21.11 Microdeletion Syndrome	Abnormality of the dentition, Downturned corners of mouth, Downslanted palpebral fissures, Narrow...	ORPHA:284160
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Spermatogenic Failure 13	Azoospermia, Male infertility	OMIM:615841
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Pallor	ORPHA:536516
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Intrauterine growth retardation, Upslanted palpebral fissure, Microcephal...	ORPHA:1352
Even-Plus Syndrome	Highly arched eyebrow, Hypodontia, Brachycephaly, High palate, Anal atresia, Synophrys	OMIM:616854
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Plagiocephaly, Tented upper lip vermilion, Upslanted palpebral fissure, Anterior p...	OMIM:614749
Temtamy Preaxial Brachydactyly Syndrome	Highly arched eyebrow, Plagiocephaly, Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft pal...	OMIM:605282
Houge-Janssens Syndrome 2	Plagiocephaly, Downslanted palpebral fissures, Tented upper lip vermilion, Open mouth, Microcepha...	OMIM:616362
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Gomez-Lopez-Hernandez Syndrome	Skull asymmetry, Downslanted palpebral fissures, Turricephaly, Smooth philtrum, Brachycephaly, Th...	OMIM:601853
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Branchioskeletogenital Syndrome	Carious teeth, Downturned corners of mouth, Downslanted palpebral fissures, Blepharochalasis, Eye...	ORPHA:1299
Burning Mouth Syndrome	Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microcephaly, Coloboma, Progressive microcephaly, Hydrocephalus, Micropht...	OMIM:615249
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ...	ORPHA:2930
Spondylo-Ocular Syndrome	Long philtrum, Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Microphthalmia, Thin ...	ORPHA:85194
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Tented upper lip vermilion, Smooth philtrum, Brachycephaly, Progressive microcephaly, Microcephaly	OMIM:620240
Charge Syndrome	Highly arched eyebrow, Delayed eruption of teeth, Cleft upper lip, Umbilical hernia, Chorioretina...	ORPHA:138
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Plagiocephaly, Downturned corners of mouth, Tented upper lip vermilion, Open mouth, Thin upper li...	OMIM:618430
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor	ORPHA:49827
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Summitt Syndrome	Craniosynostosis, Plagiocephaly, Epicanthus	ORPHA:3210
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Hb Bart'S Hydrops Fetalis	Pallor, Hydrocephalus	ORPHA:163596
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Craniofacial Dyssynostosis With Short Stature	Brachyturricephaly, Brachycephaly, Hydrocephalus, Abnormal shape of the occiput, Frontal bossing,...	OMIM:218350
1Q21.1 Microdeletion Syndrome	Iris coloboma, Long philtrum, Ankyloglossia, Intrauterine growth retardation, Epicanthus, Microce...	ORPHA:250989
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Bifid uvula, Long philtrum, Microphthalmia, Thin upper lip vermilion, Microcephaly, Severe intrau...	OMIM:241410
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hype...	OMIM:603909
Bilateral Perisylvian Polymicrogyria	Microcephaly, Intrauterine growth retardation, Protruding tongue	ORPHA:98889
Fibular Hemimelia	Craniosynostosis, Spina bifida, Anophthalmia	ORPHA:93323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Hydrocephalus, Microphthalmia	OMIM:615181
Craniosynostosis, Herrmann-Opitz Type	Intrauterine growth retardation, Turricephaly, Brachycephaly, Craniosynostosis, Cleft palate	ORPHA:2145
2Q31.1 Microdeletion Syndrome	Short palpebral fissure, Downturned corners of mouth, Long philtrum, Optic disc coloboma, Downsla...	ORPHA:251014
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Curry-Jones Syndrome	Optic disc coloboma, Intestinal malrotation, Microphthalmia, Craniosynostosis, Iris coloboma	ORPHA:1553
Fanconi Anemia, Complementation Group R	Agenesis of permanent teeth, Microcephaly, Hydrocephalus, Microphthalmia, Anal atresia	OMIM:617244
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Highly arched eyebrow, Plagiocephaly, Umbilical hernia, Open mouth, Microcephaly, Abnormal size o...	ORPHA:500159
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Narrow palpebral fissure, Microphthalmia	OMIM:614219
Pelvis-Shoulder Dysplasia	Hydranencephaly, Microglossia, Short palpebral fissure, Bilateral microphthalmos, Retinal colobom...	ORPHA:2839
Joubert Syndrome 21	Ptosis, Occipital encephalocele, Encephalocele, Anophthalmia	OMIM:615636
9P13 Microdeletion Syndrome	Highly arched eyebrow, Umbilical hernia, Dry skin, Thick eyebrow, Epicanthus, Brachycephaly, High...	ORPHA:324313
Irida Syndrome	Abnormal intestine morphology, Pallor	ORPHA:209981
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Neoplasm of th...	ORPHA:100026
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic...	ORPHA:848
Familial Peripheral Male-Limited Precocious Puberty	Oligozoospermia, Male infertility	ORPHA:3000
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Abnormality of the dentition, Umbilical hernia, Oligodontia, Brachyceph...	ORPHA:2095
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Microphthalmia With Limb Anomalies	Long philtrum, Cleft upper lip, Macrodontia, True anophthalmia, Abnormal eyebrow morphology, Hydr...	ORPHA:1106
Heart And Brain Malformation Syndrome	High, narrow palate, Cleft lip, Thick lower lip vermilion, Prominent occiput, Microcephaly, Evert...	OMIM:616920
Acromelic Frontonasal Dysplasia	Telecanthus, Median cleft palate, Encephalocele, Median cleft upper lip, Brachycephaly, Ptosis, M...	ORPHA:1827
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Long philtrum, Anteriorly placed anus, Open mouth, Thin upper lip vermilion,...	OMIM:618494
Congenital Heart Block	Intrauterine growth retardation, Pallor	ORPHA:60041
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Chorioretinal coloboma, Ptosis, Blepharophimosis, Meningocele, Glossoptosis, Biparietal narrowing	ORPHA:2031
19P13.13 Microdeletion Syndrome	Downslanted palpebral fissures, Long eyelashes, Narrow mouth, Thin upper lip vermilion, Smooth ph...	ORPHA:357001
Kleefstra Syndrome Due To A Point Mutation	Abnormality of the dentition, Plagiocephaly, Natal tooth, Thick lower lip vermilion, Umbilical he...	ORPHA:261652
Pseudotrisomy 13 Syndrome	Cleft upper lip, Cyclopia, Median cleft palate, Encephalocele, Upslanted palpebral fissure, Media...	OMIM:264480
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Steatorrhea	OMIM:235555
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Sparse eyebrow, Natal tooth, Telecanthus, Narr...	ORPHA:2108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Coloboma, Hydrocephalus, Microphthalmia	OMIM:613153
Monosomy 9P	Abnormality of the dentition, Highly arched eyebrow, Long philtrum, Downslanted palpebral fissure...	ORPHA:261112
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Bifid uvula, Cleft upper lip, Microcephaly, Brachycephaly, Cleft palate	OMIM:300958
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Downslanted palpebral fissures, Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Ro...	OMIM:192445
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:48431
Recombinant Chromosome 8 Syndrome	Abnormality of the dentition, Downturned corners of mouth, Thick lower lip vermilion, Secondary m...	OMIM:179613
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Downslanted palpebral fissures, Sparse eyelashes, Scaling skin, Microphthalmia, H...	ORPHA:35173
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Epicanthus, Microdontia	ORPHA:3191
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testis morphology, ...	ORPHA:54251
Cousin Syndrome	Hydranencephaly, Microglossia, Short palpebral fissure, Alveolar ridge overgrowth, Hydrocephalus,...	OMIM:260660
Acrodermatitis Enteropathica	Erythema, Skin ulcer, Furrowed tongue, Dry skin, Abnormal eyebrow morphology, Abnormal eyelid mor...	ORPHA:37
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopen...	ORPHA:158057
Beck-Fahrner Syndrome	Long philtrum, Open mouth, Microcephaly, Brachycephaly, Ptosis, Lacrimal duct stenosis, High palate	OMIM:618798
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Gastroesophageal reflux, Splenomegaly	ORPHA:2414
Robinow-Sorauf Syndrome	Plagiocephaly, Bilateral ptosis, Downslanted palpebral fissures, Shallow orbits, Craniosynostosis...	OMIM:180750
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
20Q11.2 Microduplication Syndrome	Tented philtrum, Downslanted palpebral fissures, Trigonocephaly, Gingival overgrowth, Tented uppe...	ORPHA:363659
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Bifid uvula, Microglossia, Plagiocephaly, Anophthalmia, Orbital cyst...	OMIM:607932
Gracile Bone Dysplasia	Ankyloglossia, Aniridia, Hydrocephalus, Microphthalmia	OMIM:602361
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Linear Nevus Sebaceus Syndrome	Iris coloboma, Plagiocephaly, Telecanthus, Prominent occiput, Biparietal narrowing, Microphthalmi...	ORPHA:2612
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Microphthalmia, Syndromic 9	Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos, Blepharophimosis	OMIM:601186
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Plagiocephaly, Long philtrum, Telecanthus, Thick eyebrow, Tented upper lip vermilion, Upslanted p...	OMIM:619383
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Downturned corners of mouth, Intestinal malrotation, Lacrimal duct stenosis, Thin ...	ORPHA:457193
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis	OMIM:179010
Moebius Syndrome	Bifid uvula, Abnormality of the dentition, Congenital fibrosis of extraocular muscles, Epicanthus...	OMIM:157900
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Downslanted palpebral fissures, Intrauterine growth retardation, Tented upper lip ...	ORPHA:371364
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Cleft lip, Natal tooth, Unicoronal synostosis, Hamartoma of tongue, Encephalocele...	OMIM:616300
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Band Heterotopia	Plagiocephaly, Hydrocephalus	OMIM:600348
Laurence-Moon Syndrome	Epicanthus, Brachycephaly, Iris coloboma	ORPHA:2377
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Microcephaly, Narrow palate, Plagiocephaly	OMIM:617481
2P15P16.1 Microdeletion Syndrome	Sparse eyebrow, Long philtrum, Downslanted palpebral fissures, Intrauterine growth retardation, L...	ORPHA:261349
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microcephaly, Optic nerve hypoplasia, Narrow mouth, Microphthalmia	OMIM:614833
Chronic Granulomatous Disease	Pyloric stenosis, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophi...	ORPHA:379
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Abnormally large globe, Plagiocephaly, Long philtrum, Downslanted palpebral fissures, Retinal col...	OMIM:300749
Chromosome 13Q14 Deletion Syndrome	Iris coloboma, Chorioretinal coloboma, Umbilical hernia, Thin upper lip vermilion, Epicanthus, De...	OMIM:613884
Atelis Syndrome 2	Short palpebral fissure, Downturned corners of mouth, Diastema, Thick lower lip vermilion, Dacryo...	OMIM:620185
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Trisomy 9P	Dental crowding, Downturned corners of mouth, Downslanted palpebral fissures, Impacted tooth, Mic...	ORPHA:236
Congenital Rubella Syndrome	Microcephaly, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Retinal coloboma, Microphthalmia	ORPHA:363741
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:616589
Orofaciodigital Syndrome I	Carious teeth, Ankyloglossia, Epicanthus, High palate, Downslanted palpebral fissures, Myelomenin...	OMIM:311200
Trisomy 8Q	Myelomeningocele, Upslanted palpebral fissure, Abnormal oral frenulum morphology, Orofacial cleft...	ORPHA:1752
Marbach-Schaaf Neurodevelopmental Syndrome	Short palpebral fissure, Plagiocephaly, Downturned corners of mouth, Upslanted palpebral fissure,...	OMIM:619680
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Hypoplasia of the frontal bone, Sparse eyebrow, Eyelid coloboma, Sparse...	ORPHA:306542
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hartnup Disorder	Glossitis	OMIM:234500
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Abnormal dental enamel morphology, Abnormal rectum morphology, Anophthalmia, Abnormal n...	ORPHA:2556
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Hemochromatosis, Type 1	Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomegaly, Ci...	OMIM:235200
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Hepatitis, Splenomegaly, Ducta...	OMIM:613812
Chromosome 8Q21.11 Deletion Syndrome	Short palpebral fissure, Downturned corners of mouth, Downslanted palpebral fissures, Exaggerated...	OMIM:614230
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Secondary microcephaly, Pallor	OMIM:613839
Hereditary Folate Malabsorption	Glossitis, Cheilitis, Pallor	ORPHA:90045
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Microcephaly, Brachycephaly	OMIM:309541
Incontinentia Pigmenti	Erythema, Conical tooth, Delayed eruption of teeth, Pallor, Oligodontia, Hypoplasia of the fovea,...	OMIM:308300
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Downslanted palpebral fissures, Turricephaly, Aganglionic megacolon, Epicanthus, P...	OMIM:613603
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Monosomy 9Q22.3	Delayed eruption of teeth, Long philtrum, Umbilical hernia, Downslanted palpebral fissures, Trigo...	ORPHA:77301
Grant Syndrome	Open bite, Brachycephaly, Frontal bossing, Abnormal palate morphology	ORPHA:2097
Aica-Ribosiduria	Thin upper lip vermilion, Brachycephaly, Wide mouth	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	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Secondary microcephaly, Microphthalmia	OMIM:613730
Au-Kline Syndrome	Bifid uvula, Plagiocephaly, Dental malocclusion, Downturned corners of mouth, Sparse lateral eyeb...	OMIM:616580
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Crohn's disease, Colitis, Dec...	OMIM:618394
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Encephalocele, Buphthalmos, Microcephaly, Hydrocephalus, Microphthalmia, Macrogl...	OMIM:613150
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Frontal bossing, Abnormal dental enam...	ORPHA:85199
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho...	ORPHA:2357
Ohdo Syndrome, X-Linked	Sparse eyebrow, Long philtrum, Widely spaced teeth, Downslanted palpebral fissures, Narrow mouth,...	OMIM:300895
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis	OMIM:614876
Branchiooculofacial Syndrome	Abnormality of the dentition, Nasolacrimal duct obstruction, Cleft upper lip, Retinal coloboma, I...	OMIM:113620
Dravet Syndrome	Pallor	ORPHA:33069
Focal Dermal Hypoplasia	Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Umbilical hernia, Myelomeningoce...	OMIM:305600
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Downturned corners of mouth, Upslanted palpebral fissure, Thin upper lip vermilion, Short philtru...	OMIM:613443
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Chorioretinal coloboma, Umbilical hernia, Intestina...	OMIM:115470
Intellectual Disability-Strabismus Syndrome	Abnormality of the dentition, Highly arched eyebrow, Plagiocephaly, Intrauterine growth retardati...	ORPHA:363528
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Microphthalmia	ORPHA:627
Cerebrooculofacioskeletal Syndrome 2	Microcephaly, Intrauterine growth retardation, Microphthalmia	OMIM:610756
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Coloboma, Frontal bossing, Shallow orbits, Microphthalmia	OMIM:617306
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Trichothiodystrophy 4, Nonphotosensitive	Sparse eyelashes, Epicanthus, Microcephaly, Keratoconjunctivitis sicca, Microphthalmia, Hypoplasi...	OMIM:234050
Joubert Syndrome 2	Chorioretinal coloboma, Optic disc coloboma, Encephalocele, Hydrocephalus, Microphthalmia, Dolich...	OMIM:608091
Martsolf Syndrome 1	Tooth malposition, Long philtrum, Downslanted palpebral fissures, Epicanthus, Brachycephaly, Micr...	OMIM:212720
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ptosis, Pallor	ORPHA:13
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility	OMIM:617091
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Porta...	ORPHA:824
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Intestinal malrotation, Cyclopia, Narrow mouth, Encephalocele, Microcephaly, Or...	ORPHA:2166
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Plagiocephaly, Downturned corners of mouth, Furrowed tongue, Intrauterine growth ret...	ORPHA:453499
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro...	OMIM:300048
Hyperphosphatasia-Intellectual Disability Syndrome	Bifid uvula, Highly arched eyebrow, Plagiocephaly, Downturned corners of mouth, Anteriorly placed...	ORPHA:247262
Pde4D Haploinsufficiency Syndrome	Long philtrum, Abnormal dental enamel morphology, Intrauterine growth retardation, Thin upper lip...	ORPHA:439822
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Inflammation of the large intestine, Lymphocytic infiltration of the colorect...	ORPHA:436159
Joubert Syndrome 18	Intrauterine growth retardation, Occipital encephalocele, Cleft palate, Lobulated tongue	OMIM:614815
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Long philtrum, Pursed lips, Downslanted palpebral fissures, Narrow mouth, Smooth philtrum, Brachy...	ORPHA:562528
Microphthalmia, Lenz Type	Abnormality of the dentition, Ankyloblepharon, Delayed eruption of teeth, Chorioretinal coloboma,...	ORPHA:568
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Plagiocephaly, Long philtrum, Microcephaly, Brachycephaly, Dolichocephaly, Frontal bossing	OMIM:619721
Prune1-Related Neurological Syndrome	Tongue fasciculations, Plagiocephaly, Microcephaly	ORPHA:544469
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Short palpebral fissure, Dental crowding, Long philtrum, Downslanted palpebral fis...	OMIM:616078
Auriculocondylar Syndrome 3	Ectropion, Bifid uvula, Glossoptosis	OMIM:615706
Osteoporosis-Pseudoglioma Syndrome	Frontal bossing, Microphthalmia	ORPHA:2788
Xq28 (MECP2) duplication	Microcephaly, Brachycephaly, Narrow mouth	DECIPHER:45
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Widely spaced teeth, Tented upper lip vermilion, Narrow mouth, Upslanted palpebral fissure, Epica...	OMIM:300260
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of the dentition, Keratoconjunctivitis sicca, Skin ulcer, Microphthalmia	ORPHA:1806
Dubowitz Syndrome	Short palpebral fissure, Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, ...	OMIM:223370
Antley-Bixler Syndrome	Long philtrum, Downslanted palpebral fissures, Narrow mouth, Turricephaly, Brachycephaly, Cranios...	ORPHA:83
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia, Cryptorchidism	ORPHA:2617
19P13.12 Microdeletion Syndrome	Long philtrum, Intrauterine growth retardation, Hypodontia, Brachycephaly, Epicanthus, Microcepha...	ORPHA:254346
3Q29 Microdeletion Syndrome	Abnormality of the dentition, Dental crowding, Downslanted palpebral fissures, Microcephaly, Orof...	ORPHA:65286
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Upslanted palpebral fissure, Bilateral cleft palate, Bifid tongue, Flat o...	ORPHA:2001
Cutis Laxa, Autosomal Recessive, Type Iiia	Umbilical hernia, Intrauterine growth retardation, Narrow mouth, Brachycephaly, Cutis laxa, Front...	OMIM:219150
X-Linked Intellectual Disability Due To Gria3 Mutations	Eversion of lateral third of lower eyelids, Macrodontia of permanent maxillary central incisor, T...	ORPHA:364028
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-...	ORPHA:1876
Galloway-Mowat Syndrome 3	Downslanted palpebral fissures, Intrauterine growth retardation, Narrow mouth, Hiatus hernia, Epi...	OMIM:617729
Achondrogenesis, Type Ii	Abnormally large globe, Long philtrum, Brachycephaly, Frontal bossing, Cleft palate	OMIM:200610
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Trigonocephaly, Decreased calvarial ossification, Craniosynostosis, Cleft palate	OMIM:618265
Hamamy Syndrome	Sparse eyebrow, Dental malocclusion, Sparse lateral eyebrow, Long philtrum, Neck pterygia, Teleca...	OMIM:611174
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis	OMIM:619817
Lujan-Fryns Syndrome	Abnormality of the dentition, Dental crowding, Brachycephaly, High palate, Short philtrum	ORPHA:776
Intellectual Developmental Disorder, Autosomal Recessive 38	Narrow palate, Plagiocephaly	OMIM:615516
Neuroocular Syndrome 1	Hooded upper eyelid, Ankyloglossia, Hypoplasia of the fovea, Torus palatinus, Microphthalmia, Len...	OMIM:619539
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia, Pyloric stenosis	OMIM:188025
X-Linked Intellectual Disability, Wilson Type	Microcephaly, Brachycephaly, Wide mouth, Thick vermilion border	ORPHA:85290
Mosaic Trisomy 9	Intestinal malrotation, Intrauterine growth retardation, Prominent occiput, Upslanted palpebral f...	ORPHA:99776
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Fumarase Deficiency	Conjunctival icterus, Pallor, Microcephaly, High palate, Frontal bossing, Necrotizing enterocolitis	OMIM:606812
Opitz-Kaveggia Syndrome	Narrow palate, Anal stenosis, Plagiocephaly, Dental crowding, Long philtrum, Umbilical hernia, In...	OMIM:305450
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy	ORPHA:496689
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Unilateral narrow palpebral fissure, Persistence of primary t...	OMIM:618727
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Long palpebral fissure, Ptosis, Craniosy...	ORPHA:531151
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Highly arched eyebrow, Upslanted palpebral fissure, Brachycephaly, Ptosis, Epicanthus inversus	ORPHA:2988
Microphthalmia-Brain Atrophy Syndrome	Microcephaly, Bilateral microphthalmos	ORPHA:77299
Wieacker-Wolff Syndrome, Female-Restricted	Downturned corners of mouth, Long philtrum, Microcephaly, Brachycephaly, Ptosis, U-Shaped upper l...	OMIM:301041
Gillessen-Kaesbach-Nishimura Syndrome	Telecanthus, Smooth philtrum, Brachycephaly, Microcephaly, Epicanthus	OMIM:263210
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal...	ORPHA:137888
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Sparse eyebrow, Downslanted palpebral fissures, Furrowed tongue, Tented uppe...	ORPHA:464738
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Smith-Magenis Syndrome	Cleft upper lip, Open mouth, Tented upper lip vermilion, Upslanted palpebral fissure, Delayed eru...	ORPHA:819
Ritscher-Schinzel Syndrome 3	Highly arched eyebrow, Chorioretinal coloboma, Downslanted palpebral fissures, Thin upper lip ver...	OMIM:619135
Intellectual Developmental Disorder, Autosomal Dominant 1	Highly arched eyebrow, Downturned corners of mouth, Widely spaced teeth, Frontal bossing, Seconda...	OMIM:156200
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Ritscher-Schinzel Syndrome 4	Narrow palate, Plagiocephaly, Downslanted palpebral fissures, Thick vermilion border, Brachycepha...	OMIM:619435
Pseudodiastrophic Dysplasia	Smooth philtrum, Brachycephaly, Frontal bossing	OMIM:264180
Diamond-Blackfan Anemia 1	Parietal foramina, Cleft upper lip, Downslanted palpebral fissures, Intrauterine growth retardati...	OMIM:105650
Peroxisome Biogenesis Disorder 12A (Zellweger)	Scaphocephaly, Epicanthus, Microcephaly, Hydrocephalus, Cranial asymmetry	OMIM:614886
Dominant Beta-Thalassemia	Abnormality of the dentition, Skin ulcer, Pallor, Upslanted palpebral fissure, Frontal bossing	ORPHA:231226
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Iris coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:212550
Oculodentodigital Dysplasia	Short palpebral fissure, Carious teeth, Selective tooth agenesis, Cleft upper lip, Microdontia, T...	OMIM:164200
Basal Cell Nevus Syndrome 1	Iris coloboma, Cleft upper lip, Orbital cyst, Parietal bossing, Spina bifida, Odontogenic keratoc...	OMIM:109400
Chromosome 2Q37 Deletion Syndrome	Highly arched eyebrow, Upslanted palpebral fissure, Brachycephaly, Blepharophimosis, Narrow palpe...	OMIM:600430
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Smith-Magenis Syndrome	Abnormality of the dentition, Everted upper lip vermilion, Velopharyngeal insufficiency, Brachyce...	OMIM:182290
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum	ORPHA:166100
Carey-Fineman-Ziter Syndrome	Long philtrum, Aplasia/Hypoplasia of the tongue, Downslanted palpebral fissures, Epicanthus, Micr...	ORPHA:1358
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, Cleft lip, Downslanted palpebral fissures, Furrowed tongue, Intrauterine g...	OMIM:616975
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
De Barsy Syndrome	Delayed eruption of teeth, Umbilical hernia, Downslanted palpebral fissures, Intrauterine growth ...	ORPHA:2962
Monosomy 13Q14	Trigonocephaly, Intrauterine growth retardation, Epicanthus, Microcephaly, Ptosis, Microphthalmia...	ORPHA:1587
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Abnormal eyebrow morphology, Abnormal eyelid morphology	ORPHA:2221
Bartsocas-Papas Syndrome 1	Axillary pterygium, Anal stenosis, Popliteal pterygium, Ankyloblepharon, Cleft upper lip, Oral sy...	OMIM:263650
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Coloboma, Hypopl...	ORPHA:2334
Xeroderma Pigmentosum, Complementation Group D	Microcephaly, Entropion, Keratoconjunctivitis sicca, Microphthalmia, Ectropion, Conjunctivitis	OMIM:278730
Kapur-Toriello Syndrome	Retinal coloboma, Intestinal malrotation, Orofacial cleft, Microphthalmia, Iris coloboma	ORPHA:2328
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Long philtrum, Thick eyebrow, Epicanthus, Brachycephaly, Cutis laxa, Thin vermilion border	OMIM:614800
Menkes Disease	Brachycephaly, Intrauterine growth retardation, Cutis laxa, Microcephaly	OMIM:309400
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Intrauterine growth retardation, Microcephaly, Blepharophimosis, Short ...	OMIM:610758
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Tetraamelia-Multiple Malformations Syndrome	Iris coloboma, Narrow mouth, Orofacial cleft, Hydrocephalus, Microphthalmia, Anal atresia, Septo-...	ORPHA:3301
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase...	ORPHA:231222
American Trypanosomiasis	Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Hepatomegaly	ORPHA:3386
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Lower eyelid coloboma, Delayed eruption of primary teeth, Sparse eyelashes, Ever...	OMIM:616367
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepa...	ORPHA:1655
Marshall Syndrome	Abnormality of the dentition, Sparse eyebrow, Long philtrum, Thick lower lip vermilion, Thick upp...	ORPHA:560
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Coronal craniosynostosis, Umbilical hernia, Agenesis of permanent te...	OMIM:201000
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Distal Deletion 10Q	Downslanted palpebral fissures, Upslanted palpebral fissure, Thin upper lip vermilion, Smooth phi...	ORPHA:96148
Refsum Disease	Dry skin, Ptosis, Microphthalmia	ORPHA:773
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Intrauterine growth retardation, Microcephaly, Remnants of the hyaloid vascu...	ORPHA:2714
Den Hoed-De Boer-Voisin Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ...	OMIM:619229
Cree Impaired Intellectual Development Syndrome	Downslanted palpebral fissures, Cleft soft palate, Brachycephaly, Ptosis, Coloboma	OMIM:606851
Rothmund-Thomson Syndrome, Type 2	Sparse eyebrow, Delayed eruption of teeth, Anteriorly placed anus, Frontal bossing, Agenesis of p...	OMIM:268400
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro...	OMIM:603554
Stromme Syndrome	Iris coloboma, Intestinal malrotation, Jejunal atresia, Microcephaly, Hydrocephalus, Microphthalm...	OMIM:243605
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion...	OMIM:602483
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Downslanted palpebral fissures, Thick eyebrow, Epicanthus, Brachycephaly, Broad ...	ORPHA:1394
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
49,Xxxxy Syndrome	Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Upslanted...	ORPHA:96264
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Chorioretinal coloboma, Dry skin, Open mouth, Epicanthus, Everted lower lip vermilion, Cleft lip,...	OMIM:280000
Fg Syndrome 3	Cryptorchidism, Pyloric stenosis	OMIM:300406
Kapur-Toriello Syndrome	Cleft upper lip, Retinal coloboma, Intestinal malrotation, Intrauterine growth retardation, Micro...	OMIM:244300
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Micro Syndrome	Retinal coloboma, Intrauterine growth retardation, High palate, Microcephaly, Microphthalmia, Sho...	ORPHA:2510
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Secondary microcephaly, Intrauterine growth retardation, Hiatus hernia, E...	OMIM:251300
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni...	ORPHA:457077
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Unilateral cleft lip, Intrauterine growth retardation, Telecanthus, Microcephaly, Brachycephaly, ...	OMIM:616897
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, High palate, Ptosis	OMIM:218000
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Lymph node hypoplasia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in pre...	OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy	OMIM:619183
White-Sutton Syndrome	Bifid uvula, Downturned corners of mouth, Downslanted palpebral fissures, Intrauterine growth ret...	OMIM:616364
Arthrogryposis, Distal, Type 5D	Highly arched eyebrow, Furrowed tongue, Open mouth, Narrow mouth, Lagophthalmos, Ptosis, Tongue a...	OMIM:615065
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Congenital Primary Aphakia	Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm...	ORPHA:83461
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Plagiocephaly, Optic nerve hypoplasia, Downslanted palpebral fissures, Congenital fibrosis of ext...	ORPHA:300570
Carey-Fineman-Ziter Syndrome 1	Microglossia, Plagiocephaly, Downslanted palpebral fissures, Lagophthalmos, Epicanthus, Microceph...	OMIM:254940
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Glossitis, Pallor	ORPHA:35858
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly, Tooth agenesis, Abnormal palate morphology, Multiple unerupted teeth, Anal atresia...	ORPHA:2063
Microphthalmia/Coloboma 12	Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula...	OMIM:120200
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ...	ORPHA:261529
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Inflammation of the large intestine, Pancytopenia, Villous atrophy, Splenomeg...	OMIM:614700
Neurofaciodigitorenal Syndrome	Abnormal oral mucosa morphology, Plagiocephaly, Downslanted palpebral fissures, Intrauterine grow...	ORPHA:2673
Cleidocranial Dysplasia	High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Open...	ORPHA:1452
Pfeiffer Syndrome	Coronal craniosynostosis, Dental crowding, Brachyturricephaly, Downslanted palpebral fissures, Sh...	OMIM:101600
Agnathia-Otocephaly Complex	Microglossia, Downslanted palpebral fissures, Aglossia, Narrow mouth, Holoprosencephaly, Cleft pa...	OMIM:202650
Trichohepatoneurodevelopmental Syndrome	Plagiocephaly, Dental crowding, Downturned corners of mouth, Widely spaced teeth, Ectropion, Long...	OMIM:618268
Rodrigues Blindness	Tooth malposition, Microphthalmia	OMIM:268320
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Cooper-Jabs Syndrome	Brachycephaly, Frontal bossing, Anteriorly placed anus, Umbilical hernia	ORPHA:1488
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	High palate, Microphthalmia	OMIM:619053
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, Epicanthus, High palate, Tongue nodules, Cleft pala...	OMIM:258860
Kaufman Oculocerebrofacial Syndrome	Sparse eyebrow, Carious teeth, Diastema, Intestinal malrotation, Telecanthus, Narrow mouth, Upsla...	OMIM:244450
Holoprosencephaly 2	Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Proboscis, Chorioretinal colo...	OMIM:157170
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Epicanthus, Anemic pallor, Microcephaly, Microphthalmia	OMIM:227645
Congenital Disorder Of Glycosylation, Type Iit	Downslanted palpebral fissures, Tented upper lip vermilion, Microcephaly, Brachycephaly, Thick ve...	OMIM:618885
Chilton-Okur-Chung Neurodevelopmental Syndrome	Posterior plagiocephaly, Ankyloglossia, Narrow palpebral fissure, Sparse eyebrow, Plagiocephaly, ...	OMIM:619841
Skin Creases, Congenital Symmetric Circumferential, 2	Short palpebral fissure, Carious teeth, Downslanted palpebral fissures, Narrow mouth, Upslanted p...	OMIM:616734
Congenital Myopathy 13	Short palpebral fissure, Downturned corners of mouth, Downslanted palpebral fissures, Telecanthus...	OMIM:255995
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Ascites, Abnormal gastric mucosa morphology, Cirrhosis, Hepa...	ORPHA:779
Lelis Syndrome	Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Upslanted palpebral fissure, Hypodontia, ...	ORPHA:140936
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Beta-Thalassemia Major	Abnormality of the dentition, Skin ulcer, Pallor, Upslanted palpebral fissure, Frontal bossing	ORPHA:231214
Anterior Segment Dysgenesis 2	Aniridia, Congenital aphakia, Coloboma, Anterior segment of eye aplasia, Microphthalmia	OMIM:610256
Oculoauricular Syndrome	Nasolacrimal duct obstruction, Chorioretinal coloboma, Retinal coloboma, Macular hypoplasia, Phth...	OMIM:612109
Duane Retraction Syndrome	Blepharospasm, Short palpebral fissure, Plagiocephaly, Optic disc hypoplasia, Chorioretinal colob...	ORPHA:233
Focal Dermal Hypoplasia	Abnormality of the dentition, Erythema, Chorioretinal coloboma, Umbilical hernia, Open bite, Abno...	ORPHA:2092
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Tongue fasciculations, Sparse eyebrow, Plagiocephaly, Widely spaced teeth, Secondary microcephaly...	OMIM:617193
ERI1-related disease	Velopharyngeal insufficiency, Trigonocephaly, Intrauterine growth retardation, Upslanted palpebra...	OMIM:608739
Neurogenic Arthrogryposis Multiplex Congenita	Scaphocephaly, Plagiocephaly	ORPHA:1143
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Treacher Collins Syndrome 1	Sparse lower eyelashes, Bilateral microphthalmos, Downslanted palpebral fissures, Cleft soft pala...	OMIM:154500
Chime Syndrome	Abnormality of the dentition, Erythema, Skin ulcer, Retinal coloboma, Abnormal dental morphology,...	ORPHA:3474
Cranioectodermal Dysplasia 2	Sparse eyelashes, Epicanthus, Everted lower lip vermilion, Blepharophimosis, Narrow palpebral fis...	OMIM:613610
Adams-Oliver Syndrome	Calvarial skull defect, Encephalocele, Hydrocephalus, Microphthalmia, Esophageal varix	ORPHA:974
Anterior Segment Dysgenesis 7	Buphthalmos, Iris coloboma, Microphthalmia	OMIM:269400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Cleft upper lip, Microcephaly, Coloboma, Hydrocephalus, Microphthalmia, ...	OMIM:236670
Congenital Disorder Of Glycosylation, Type Il	Long philtrum, Frontal bossing, Villous atrophy, Microcephaly, Brachycephaly, Wide mouth	OMIM:608776
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Sparse eyebrow, Dental crowding, Thick lower lip vermilion, Thi...	OMIM:309583
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Abnormally large globe, Long philtrum, Downslanted palpebral fissures, Thick eyebrow, Narrow mout...	OMIM:245600
Microcephaly 20, Primary, Autosomal Recessive	Microcephaly, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Anauxetic Dysplasia 3	Broad eyebrow, Cutis laxa, Plagiocephaly, Oligodontia	OMIM:618853
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Pallor	ORPHA:98870
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Remnants of the hyaloid vascular system, Microphthalmia, Frontal bo...	OMIM:614643
7Q31 Microdeletion Syndrome	Short palpebral fissure, Plagiocephaly, Long philtrum, Intrauterine growth retardation, Telecanth...	ORPHA:251061
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Plagiocephaly, Long philtrum, Downslanted palpebral fissures, Bilateral ptosis, Thick eyebrow, Na...	OMIM:619512
Mosaic Trisomy 1	Thick lower lip vermilion, Frontal bossing, Congenital bilateral ptosis, Downslanted palpebral fi...	ORPHA:1692
Charge Syndrome	Anal stenosis, Cleft upper lip, Umbilical hernia, Downslanted palpebral fissures, Retinal colobom...	OMIM:214800
48,Xxxy Syndrome	Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Upslanted...	ORPHA:96263
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Histiocytoid Cardiomyopathy	Pallor, Hydrocephalus, Congenital aphakia, Microphthalmia, Cleft palate	ORPHA:137675
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Downslanted palpebral fissures, Epican...	ORPHA:2759
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor, Hypoplasia of the retina, Microcephaly, Coloboma, Hydrocephalus, Everted lower lip vermil...	OMIM:253280
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Downturned corners of mouth, Long philtrum, Downslanted palpebral fissures, Narrow...	ORPHA:2215
Garg-Mishra Progeroid Syndrome	Secondary microcephaly, Dental crowding, Microphthalmia	OMIM:620601
Kbg Syndrome	Long philtrum, Downslanted palpebral fissures, Macrodontia, Telecanthus, Thick eyebrow, Tented up...	OMIM:148050
Gapo Syndrome	High, narrow palate, Sparse eyebrow, Plagiocephaly, Eruption failure, Long philtrum, Thick lower ...	OMIM:230740
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Mulberry molar, Microphthalmia, Screwdriver-shaped inc...	OMIM:302350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope...	ORPHA:352665
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Distichiasis, Ptosis, Microphthalmia, Ectropion, Conjunctivitis, Cleft palate	OMIM:153400
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Downslanted palpebral fissures, Intestinal malrotation, Epicanthus, Brac...	OMIM:617798
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ankyloglossia, Cleft soft palate, Open mouth, Excessive wrinkled skin, Epicanthus, High, narrow p...	OMIM:619950
Steinfeld Syndrome	Bifid uvula, Retinal coloboma, Median cleft palate, Median cleft upper lip, Microphthalmia, Holop...	OMIM:184705
Adenocarcinoma Of The Anal Canal	Intestinal bleeding, Anal stenosis, Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopath...	ORPHA:424016
Orofaciodigital Syndrome Xv	Midline notch of upper alveolar ridge, Lobulated tongue	OMIM:617127
Letterer-Siwe Disease	Stomatitis, Pallor	OMIM:246400
Apert Syndrome	Lambdoidal craniosynostosis, Bifid uvula, Coronal craniosynostosis, Dental malocclusion, Delayed ...	OMIM:101200
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Warburg Micro Syndrome 2	Secondary microcephaly, Microcephaly, Brachycephaly, Microphthalmia	OMIM:614225
Autoimmune Hepatitis	Inflammation of the large intestine, Gastrointestinal hemorrhage, Viral hepatitis, Ascites, Splen...	ORPHA:2137
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Esophageal varix	OMIM:616028
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Short hard palate, Microcepha...	ORPHA:1393
Weill-Marchesani Syndrome 2	Tooth malposition, Microspherophakia, Umbilical hernia, Abnormal dental morphology, Striae disten...	OMIM:608328
Autosomal Recessive Robinow Syndrome	Open bite, Ankyloglossia, Epicanthus, Downturned corners of mouth, Downslanted palpebral fissures...	ORPHA:1507
Idiopathic Pulmonary Hemosiderosis	Pallor	ORPHA:99931
Fanconi Anemia	Aplasia/Hypoplasia of the uvula, Epicanthus, Microphthalmia, High palate, Anal atresia, Short pal...	ORPHA:84
Lipoid Proteinosis	Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging...	ORPHA:530
Choreoacanthocytosis	Blepharospasm, Protruding tongue	ORPHA:2388
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Trichothiodystrophy 1, Photosensitive	Dry skin, Intestinal obstruction, Triangular mouth, Microcephaly, Keratoconjunctivitis sicca, Mic...	OMIM:601675
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Eyelid coloboma, Hydrocephalus, Microphthalmia, Limbal dermoid	OMIM:613001
Hypomandibular Faciocranial Dysostosis	Aglossia, Coronal craniosynostosis, Optic disc coloboma, Pursed lips	OMIM:241310
Dysostosis, Stanescu Type	Abnormality of the dentition, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, A...	ORPHA:1798
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Kleefstra Syndrome	Highly arched eyebrow, Delayed eruption of teeth, Downturned corners of mouth, Tented upper lip v...	ORPHA:261494
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Plagiocephaly, Submucous cleft hard palate, Microcephaly, Tracheoesophageal fistula, Esophageal a...	OMIM:619227
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Short palpebral fissure, Plagiocephaly, Dental crowding, Intrauterine grow...	OMIM:619005
Apert Syndrome	Bifid uvula, Delayed eruption of teeth, Brachyturricephaly, Downslanted palpebral fissures, Ectop...	ORPHA:87
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233710
Baller-Gerold Syndrome	Brachyturricephaly, Anteriorly placed anus, Intrauterine growth retardation, Narrow mouth, Epican...	ORPHA:1225
Myopathy, Mitochondrial, And Ataxia	High palate, Pallor	OMIM:617675
Aica-Ribosiduria Due To Atic Deficiency	Thin upper lip vermilion, Brachycephaly, Wide mouth, Frontal bossing	OMIM:608688
22Q11.2 Deletion Syndrome	Carious teeth, Narrow mouth, Epicanthus, Microphthalmia, Anal atresia, Purpura, Multiple suture c...	ORPHA:567
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Sparse eyebrow, Carious teeth, Natal tooth, Branchial cyst, Downturned corners of mo...	OMIM:620186
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Autosomal Recessive Faciodigitogenital Syndrome	Long philtrum, Frontal bossing, Open bite, Telecanthus, Upslanted palpebral fissure, Long palpebr...	ORPHA:1974
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Abnormal dental enamel morphology, Macrodontia, Hypodontia, Epicanthus, Cleft palate	ORPHA:2916
Meckel Syndrome, Type 1	Iris coloboma, Natal tooth, Occipital encephalocele, Cleft upper lip, Intestinal malrotation, Int...	OMIM:249000
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Short palpebral fissure, Secondary microcephaly, Telecanthus, Upslanted palpebral fissure, Brachy...	OMIM:620073
Adenylosuccinase Deficiency	Long philtrum, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Microcephaly, Wide mouth	OMIM:103050
Renpenning Syndrome 1	Sparse lateral eyebrow, Macrodontia, Telecanthus, Narrow mouth, Upslanted palpebral fissure, Thin...	OMIM:309500
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Mosaic Variegated Aneuploidy Syndrome	Downslanted palpebral fissures, Intrauterine growth retardation, Stomach cancer, Intestinal polyp...	ORPHA:1052
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Prostatitis, B lymphocytopenia, Neutropenia, Enteroviral hepatitis, Anemia...	OMIM:300755
Ramos-Arroyo Syndrome	Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Narrow mouth, Upslanted palpebral fissur...	ORPHA:1051
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Erythema, Narrow mouth, Perineal fistula, Epicanthus, High palate, A...	OMIM:218600
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Rieger anomaly, Tented upper lip vermilion, Microcephaly, Brachycephaly, Buphthalmos, Short philt...	ORPHA:521445
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Intrauterine growth retardation, Turricephaly, Bifid tongue, Cl...	ORPHA:2167
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Plagiocephaly, Long philtrum, Downslanted palpebral fissures, Submucous cleft hard palate, Thin u...	ORPHA:457279
Microphthalmia, Syndromic 1	High, narrow palate, Tooth malposition, Dental crowding, Cleft upper lip, Chorioretinal coloboma,...	OMIM:309800
Holoprosencephaly 1	Alobar holoprosencephaly, Proboscis, Median cleft palate, Median cleft upper lip, Microcephaly, E...	OMIM:236100
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Orofaciodigital Syndrome Ii	Telecanthus, Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Hydroc...	OMIM:252100
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hemateme...	OMIM:263200
Larsen-Like Syndrome	Brachycephaly, Dental malocclusion, Cleft palate, Frontal bossing	OMIM:608545
Craniofacial Microsomia 1	Occipital encephalocele, Cleft upper lip, Limbal dermoid, Branchial anomaly, Anophthalmia, Upper ...	OMIM:164210
Congenital Disorder Of Glycosylation, Type Iig	Long philtrum, Downslanted palpebral fissures, Intrauterine growth retardation, Narrow mouth, Ups...	OMIM:611209
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Aniridia, Pallor	ORPHA:29072
Fryns Syndrome	Non-midline cleft of the upper lip, Long philtrum, Intestinal malrotation, Tented upper lip vermi...	ORPHA:2059
Mycophenolate Mofetil Embryopathy	Chorioretinal coloboma, Eyelid coloboma, Orofacial cleft, Tracheoesophageal fistula, Hydrocephalu...	ORPHA:268249
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral...	OMIM:301068
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:620269
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Dental malocclusion, Delayed eruption of t...	OMIM:614188
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref...	ORPHA:90291
Alagille Syndrome	Downslanted palpebral fissures, Intrauterine growth retardation, Brachycephaly, Spina bifida occu...	ORPHA:52
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Submucous cleft hard palate, Hypodontia, Microcephaly, Glossoptosis	ORPHA:3201
Fanconi Anemia, Complementation Group D2	Microcephaly, Anemic pallor, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Blepha...	OMIM:227646
Duane-Radial Ray Syndrome	Anal stenosis, Optic disc hypoplasia, Retinal coloboma, Aganglionic megacolon, Epicanthus, Palpeb...	OMIM:607323
Aicardi Syndrome	Plagiocephaly, Sparse lateral eyebrow, Cleft upper lip, Chorioretinal coloboma, Optic disc colobo...	ORPHA:50
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
9Q33.3Q34.11 Microdeletion Syndrome	Highly arched eyebrow, Plagiocephaly, Tented philtrum, Telecanthus, Esophagitis, Narrow mouth, Mi...	ORPHA:495818
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Epicanthus, Microphthalmia, High palate, Short palpebral fissure, Thin upper lip vermilion, Thin ...	OMIM:612474
Acromelic Frontonasal Dysostosis	Parietal foramina, Cleft upper lip, Downslanted palpebral fissures, Telecanthus, Encephalocele, S...	OMIM:603671
Shprintzen-Goldberg Craniosynostosis Syndrome	Dental malocclusion, Brachyturricephaly, Umbilical hernia, Downslanted palpebral fissures, Teleca...	OMIM:182212
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Erythema, Xerostomia, Oral leukoplakia, Skin ulc...	ORPHA:2907
Frank-Ter Haar Syndrome	Abnormally large globe, Dental malocclusion, Downslanted palpebral fissures, Gingival overgrowth,...	OMIM:249420
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233690
Yunis-Varon Syndrome	Broad secondary alveolar ridge, Sparse eyelashes, Microphthalmia, Abnormal parietal bone morpholo...	ORPHA:3472
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Tay-Sachs Disease	Pallor	OMIM:272800
Ring Chromosome 7 Syndrome	Bifid uvula, Highly arched eyebrow, Plagiocephaly, Downslanted palpebral fissures, Bilateral ptos...	ORPHA:1449
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Bifid Nose With Or Without Anorectal And Renal Anomalies	Anteriorly placed anus, Thick eyebrow, Short lingual frenulum, Brachycephaly, Short philtrum, Rec...	OMIM:608980
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Abnormality of the dentition, Downturned corners of mouth, Long phil...	OMIM:615398
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Enterocolitis, Microphthalmia	OMIM:301108
Congenital Fibrinogen Deficiency	Gingival bleeding, Volvulus, Microphthalmia	ORPHA:335
Cornelia De Lange Syndrome 1	High palate, High, narrow palate, Downturned corners of mouth, Optic disc coloboma, Long eyelashe...	OMIM:122470
Mosaic Variegated Aneuploidy Syndrome 1	Long philtrum, Intrauterine growth retardation, Upslanted palpebral fissure, Triangular mouth, Ep...	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
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Progressive microcephaly, Tongue atrophy	OMIM:614678
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Telecanthus, Upslanted palpebral fissure, Turricephaly, Ptosis, High palate, Short...	OMIM:620224
Ciliary Dyskinesia, Primary, 18	Immotile sperm, Male infertility	OMIM:614874
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Autosomal Dominant Robinow Syndrome	Open bite, Anodontia, Epicanthus, Euryblepharon, High, narrow palate, Downturned corners of mouth...	ORPHA:3107
Acrodysostosis	Delayed eruption of teeth, Open bite, Telecanthus, Open mouth, Epicanthus, Brachycephaly, Frontal...	ORPHA:950
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Highly arched eyebrow, Downturned corners of mouth, Widely spaced teeth, Downslanted palpebral fi...	OMIM:616728
Faciocardiorenal Syndrome	Plagiocephaly, Narrow mouth, Smooth philtrum, Hypodontia, Cleft palate	ORPHA:1973
Loeys-Dietz Syndrome 5	Bifid uvula, Downslanted palpebral fissures, Cleft soft palate, Tented upper lip vermilion, Hiatu...	OMIM:615582
Saethre-Chotzen Syndrome	Blepharospasm, Plagiocephaly, Open bite, Epicanthus, Brachycephaly, Ptosis, Craniosynostosis, Nar...	ORPHA:794
Orofaciodigital Syndrome Type 1	Abnormality of the dentition, Odontogenic neoplasm, Lip pit, Lobulated tongue, Tongue nodules, Do...	ORPHA:2750
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Penetrating foot ulcers, Ptosis, Buphthalmos, Tongue atrophy	ORPHA:99956
Incontinentia Pigmenti	Erythema, Delayed eruption of teeth, Skin ulcer, Umbilical hernia, Abnormal dental enamel morphol...	ORPHA:464
Aymé-Gripp Syndrome	Plagiocephaly, Long philtrum, Downslanted palpebral fissures, Bilateral ptosis, Long eyelashes, N...	ORPHA:1272
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Plagiocephaly, Dental crowding, Brachycephaly, Short philtrum, Frontal bossing	OMIM:617296
Weill-Marchesani Syndrome 1	Tooth malposition, Microspherophakia, Abnormal dental morphology, Brachycephaly, Shallow orbits, ...	OMIM:277600
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Pfeiffer Syndrome Type 1	Aqueductal stenosis, High palate, Bicoronal synostosis, Brachycephaly	ORPHA:93258
Fanconi Anemia, Complementation Group E	Microcephaly, Anemic pallor, Microphthalmia	OMIM:600901
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Intrauterine growth retardation, Thick vermilion border, Scaphocephaly, Microdontia, Smooth philt...	OMIM:620005
Craniofrontonasal Syndrome	Axillary pterygium, Abnormality of the dentition, Coronal craniosynostosis, Cleft upper lip, Umbi...	OMIM:304110
Orofaciodigital Syndrome Type 6	Highly arched eyebrow, Midline notch of upper alveolar ridge, Frontal bossing, Hamartoma of tongu...	ORPHA:2754
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Plagiocephaly, Downslanted palpebral fissures, Narrow mouth, Exaggerated cupid's bow...	OMIM:619480
Sweeney-Cox Syndrome	Velopharyngeal insufficiency, Narrow mouth, Median cleft palate, Short philtrum, Brachycephaly, A...	OMIM:617746
Robinow Syndrome, Autosomal Dominant 3	Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly placed anu...	OMIM:616894
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Lacrimal duct atresia, Coloboma, Microphthalmia, High palate, Hyp...	OMIM:603457
Otopalatodigital Syndrome Type 2	Downslanted palpebral fissures, Myelomeningocele, Narrow mouth, Encephalocele, Anodontia, Oligodo...	ORPHA:90652
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bifid uvula, Posterior plagiocephaly, Long philtrum, Umbilical hernia, Scaphocephaly, Telecanthus...	OMIM:620330
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Downslanted palpebral fissures, Sparse eyelashes, Microphthalmia, Frontal bossing	OMIM:302960
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Open mouth, Everted lower lip vermilion, Microphthalmia,...	ORPHA:534
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Ciliary Dyskinesia, Primary, 14	Immotile sperm, Male infertility, Reduced sperm motility	OMIM:613807
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Plagiocephaly, Skull asymmetry, Parietal f...	OMIM:101400
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Splenomegaly, Hepatic ste...	ORPHA:567983
Sepsis In Premature Infants	Enterocolitis, Purpura, Petechiae, Pallor	ORPHA:90051
Duplication Of The Pituitary Gland	Volvulus, Brachyturricephaly, Encephalocele, Microcephaly, Abnormality of the tongue, Supernumera...	ORPHA:314621
Immunodeficiency 31C	Protein-losing enteropathy, Lymphopenia, Villous atrophy, Splenomegaly, Autoimmune hemolytic anem...	OMIM:614162
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Hemob...	ORPHA:512
Waldenström Macroglobulinemia	Gingival bleeding, Purpura, Pallor	ORPHA:33226
Meckel Syndrome 14	Decreased calvarial ossification, Holoprosencephaly, Occipital encephalocele, Microphthalmia	OMIM:619879
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Hooded upper eyelid, Plagiocephaly, Downturned corners of mouth, Long philtrum, Telecanthus, Thin...	OMIM:618548
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Microcephaly, Glossoptosis, Cleft palate	OMIM:618356
Esophageal Atresia	Barrett esophagus, Cleft lip, Intestinal malrotation, Esophagitis, Pallor, Tracheoesophageal fist...	ORPHA:1199
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Small intestinal polyposis, Adenomato...	ORPHA:329971
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Hamartoma of tongue, Decreased calvarial ossification, Brachycephaly, Mic...	OMIM:617925
Ayme-Gripp Syndrome	Abnormality of the dentition, Craniofacial asymmetry, Long philtrum, Downslanted palpebral fissur...	OMIM:601088
Chromosome 14Q11-Q22 Deletion Syndrome	Short palpebral fissure, Plagiocephaly, Long philtrum, Narrow mouth, Epicanthus, Microcephaly, Bl...	OMIM:613457
Fanconi Anemia, Complementation Group A	Microcephaly, Anemic pallor, Microphthalmia	OMIM:227650
Elsahy-Waters Syndrome	Bifid uvula, Anal stenosis, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick ...	OMIM:211380
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Lig4 Syndrome	Epicanthus, Brachycephaly, Microcephaly, Upslanted palpebral fissure	OMIM:606593
Doors Syndrome	Short lingual frenulum, Open mouth, Epicanthus, High palate, Downturned corners of mouth, Sirenom...	ORPHA:79500
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Short palpebral fissure, Long philtrum, Thick lower lip vermilion, Downslanted palpebral fissures...	OMIM:309590
Mandibuloacral Dysplasia	Abnormally large globe, Dental crowding, Abnormal tongue morphology, High palate, Hypoplasia of t...	ORPHA:2457
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Smooth philtrum, Microcephaly, Pallor, Hydrocephalus	OMIM:277400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Microcephaly, Pallor	OMIM:246450
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Upslanted palpebral fissure, Tracheoesophageal fistula, Esophage...	OMIM:614083
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Intrauterine growth retardation, Pallor	OMIM:301310
Adnp Syndrome	Plagiocephaly, Thick lower lip vermilion, Umbilical hernia, Trigonocephaly, Bilateral ptosis, Thi...	ORPHA:404448
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Isolated Biliary Atresia	Periportal fibrosis, Hypopituitarism, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged n...	ORPHA:30391
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly, Downslanted palpebral fissures, Thick eyebrow, Epicanthus, Microcephaly, Everted l...	OMIM:615471
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Cleft upper lip, Long eyelashes, Gingival overgrowth, Thick eyebrow, Upsla...	OMIM:213980
Alternating Hemiplegia Of Childhood	Thin eyebrow, Pallor, Downturned corners of mouth, Exaggerated cupid's bow	ORPHA:2131
Trichothiodystrophy	High, narrow palate, Carious teeth, Bilateral microphthalmos, Umbilical hernia, Ectropion, Dry sk...	ORPHA:33364
Hypoglossia-Hypodactylia	Aglossia, Microglossia, Narrow mouth, Epicanthus	OMIM:103300
Congenital Tracheal Stenosis	Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gast...	ORPHA:141127
Non-Functioning Pituitary Adenoma	Ptosis, Pallor	ORPHA:91349
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short palpebral fissure, Long philtrum, Retinal coloboma, Almond-shaped palpebral fissure, Thin u...	ORPHA:508498
Odontoonychodermal Dysplasia	Erythema, Sparse eyebrow, Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth...	OMIM:257980
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Long philtrum, Brachycephaly, Hydrocephalu...	OMIM:207410
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Thin calvarium, Narrow philtrum, Shallow orbits, Microphthalmia, Thin ...	OMIM:601812
Helsmoortel-Van Der Aa Syndrome	Posterior plagiocephaly, Carious teeth, Ankyloglossia, Epicanthus, Everted lower lip vermilion, N...	OMIM:615873
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Neu-Laxova Syndrome 1	Hydranencephaly, Cleft upper lip, Thick lower lip vermilion, Small placenta, Pterygium, Intrauter...	OMIM:256520
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Abnormal dental morphology, Coloboma, Cranial asymmetry	OMIM:163200
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue	ORPHA:2928
Alkuraya-Kucinskas Syndrome	Upslanted palpebral fissure, High palate, Plagiocephaly, Hydrocephalus	OMIM:617822
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Short hard palate, Epicanthus, High palate, Downturned corners of mouth, ...	OMIM:180700
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Pituitary Apoplexy	Ptosis, Pallor	ORPHA:95613
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Occipital encephalocele, Anteriorly placed anus, Optic disc coloboma, Ham...	OMIM:615948
Fanconi Anemia, Complementation Group N	Epicanthus, Anal atresia, Microcephaly, Microphthalmia	OMIM:610832
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Long philtrum, Downslanted palpebral fissures, Long eyelashes, Narrow mouth, Thin upper lip vermi...	OMIM:601353
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Glossoptosis, Frontal bossing, Cleft palate	ORPHA:440354
Smith-Lemli-Opitz Syndrome	Epicanthus, Holoprosencephaly, Iris coloboma, Biparietal narrowing, Downslanted palpebral fissure...	ORPHA:818
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Splenomegaly, Gastrointestinal stroma tumor, Lymphadenopat...	ORPHA:1572
Carpenter Syndrome 2	High, narrow palate, Narrow palate, Sparse eyebrow, Carious teeth, Dental malocclusion, Highly ar...	OMIM:614976
Acrodysostosis 1 With Or Without Hormone Resistance	Dental malocclusion, Delayed eruption of teeth, Intrauterine growth retardation, Hypodontia, Brac...	OMIM:101800
Gorlin Syndrome	Iris coloboma, Carious teeth, Telecanthus, Epicanthus, Brachycephaly, Orofacial cleft, Hydrocepha...	ORPHA:377
Myhre Syndrome	Cleft lip, Intrauterine growth retardation, Thick eyebrow, Narrow mouth, Thin upper lip vermilion...	OMIM:139210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Hydrocephalus, Microphthalmia	OMIM:616538
Orofaciodigital Syndrome Vi	Lobulated tongue, Cleft upper lip, Hamartoma of tongue, Epicanthus, Incomplete cleft of the upper...	OMIM:277170
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hydrocephalus, Holoprosencephaly, Encephalocele, Microphthalmia	OMIM:253800
Faundes-Banka Syndrome	Plagiocephaly, Downslanted palpebral fissures, Intrauterine growth retardation, Hypoplasia of the...	OMIM:619376
Acro-Renal-Ocular Syndrome	Short palpebral fissure, Optic disc hypoplasia, Chorioretinal coloboma, Optic disc coloboma, Agan...	ORPHA:959
Robinow Syndrome, Autosomal Recessive 1	Epicanthus, Downturned corners of mouth, Downslanted palpebral fissures, Long eyelashes, Absent u...	OMIM:268310
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Median cleft upper lip, Microcephaly, Orofacial cleft, Microphthalmia, Cyclopia, Holoprosencephal...	ORPHA:3186
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Diastema, Furrowed tongue, Thick eyebrow, Upslanted palpebral fissure, Thin upper lip vermilion, ...	OMIM:300534
Diamond-Blackfan Anemia	Cleft lip, Cleft soft palate, Pallor, Epicanthus, Microcephaly, Ptosis, Adenocarcinoma of the col...	ORPHA:124
Hoxha-Aliu Syndrome	Highly arched eyebrow, Epicanthus, Brachycephaly, Ptosis, High palate	OMIM:620662
Cartilage-Hair Hypoplasia	Sparse eyebrow, Spinal dysraphism, Gingival overgrowth, Abnormal palate morphology, Aganglionic m...	ORPHA:175
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Intrauterine growth retardation, Abnormal occipital bone morphology, Na...	ORPHA:468631
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly, Irregular dentition, Smooth philtrum, Blepharophimosis, Cleft palate	OMIM:615656
Orofaciodigital Syndrome Iii	Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules	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, Parietal foramina, Antecubital pterygium, Epicanthus, Microcephaly, Ptosis, ...	OMIM:609945
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Phthisis bulbi, Macular hypoplasia, Remnants of th...	ORPHA:91495
Chand Syndrome	Ankyloblepharon, Agenesis of permanent teeth, Dry skin, Abnormal oral frenulum morphology, Bifid ...	ORPHA:1401
Marshall-Smith Syndrome	Irregular dentition, High palate, Short philtrum, Pyloric stenosis, Highly arched eyebrow, Microd...	OMIM:602535
Specc1L-Related Hypertelorism Syndrome	Highly arched eyebrow, Long philtrum, Umbilical hernia, Downslanted palpebral fissures, Thick eye...	ORPHA:1519
Mend Syndrome	Asymmetry of the mouth, Telecanthus, Upslanted palpebral fissure, Hydrocephalus, Microphthalmia, ...	ORPHA:401973
Familial Exudative Vitreoretinopathy	Microcephaly, Microphthalmia	ORPHA:891
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Agel Amyloidosis	Xerostomia, Bilateral ptosis, Dry skin, Blepharochalasis, Cutis laxa, Keratoconjunctivitis sicca,...	ORPHA:85448
Progressive Non-Infectious Anterior Vertebral Fusion	Downslanted palpebral fissures, Brachycephaly, Thin vermilion border, Short philtrum, Wide mouth	ORPHA:2062
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Paralytic ileus...	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	Tongue fasciculations, Ptosis, Tongue atrophy	OMIM:614153
Contractural Arachnodactyly, Congenital	Scaphocephaly, Brachycephaly, Dolichocephaly, High palate, Frontal bossing	OMIM:121050
Turnpenny-Fry Syndrome	Abnormality of the dentition, Plagiocephaly, Dental malocclusion, Downturned corners of mouth, De...	OMIM:618371
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Abnormality of the dentition, Short palpebral fissure, Long philtrum, Smooth philtru...	OMIM:300968
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Linear Skin Defects With Multiple Congenital Anomalies 1	Anteriorly placed anus, Colonic atresia, Microcephaly, Hydrocephalus, Microphthalmia, Anal atresi...	OMIM:309801
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Lacrimal duct atresia, Delayed eruption of primary teeth	OMIM:300952
White-Sutton Syndrome	Downturned corners of mouth, Open mouth, Narrow mouth, Thin upper lip vermilion, Short philtrum, ...	ORPHA:468678
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Sparse eyebrow, Plagiocephaly, Widely spaced teeth, Secondary microcephaly, Upslanted palpebral f...	ORPHA:496641
Hunter-Macdonald Syndrome	Short palpebral fissure, Umbilical hernia, Upslanted palpebral fissure, Thin upper lip vermilion,...	OMIM:611962
Cockayne Syndrome B	Carious teeth, Dental malocclusion, Hypoplasia of the iris, Dry skin, Intrauterine growth retarda...	OMIM:133540
7Q11.23 Microduplication Syndrome	Dental malocclusion, Horizontal eyebrow, Diastema, Long eyelashes, Short lingual frenulum, Thin u...	ORPHA:96121
X-Linked Agammaglobulinemia	Conjunctivitis, Glossoptosis, Skin ulcer	ORPHA:47
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Dental crowding, Thick lower lip vermilion, Narrow mouth, Upslanted palpebral fis...	ORPHA:3063
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short palpebral fissure, Dental crowding, Long philtrum, Optic disc coloboma, Intrauterine growth...	OMIM:617157
Psoriasis 14, Pustular	Furrowed tongue, Geographic tongue, Erythema	OMIM:614204
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Aicardi Syndrome	Sparse lateral eyebrow, Cleft upper lip, Optic disc coloboma, Hiatus hernia, Microcephaly, Spina ...	OMIM:304050
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Ptosis, Tongue atrophy	ORPHA:276198
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, Tooth agenesis, Open mouth, Microdontia, Epicanthus, Ptosis, Ev...	ORPHA:570
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Oral leukoplakia, Furrowed tongue, Sparse eyelashes, Microdontia, Ker...	OMIM:148210
Arboleda-Tham Syndrome	Narrow mouth, Epicanthus, Plagiocephaly, Downturned corners of mouth, Sparse medial eyebrow, Peg-...	OMIM:616268
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Dry skin, Narrow mouth, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Narrow p...	OMIM:264090
Roberts Syndrome	Cleft upper lip, Microcephaly, Brachycephaly, Severe intrauterine growth retardation, Microphthal...	ORPHA:3103
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ...	OMIM:306400
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Tongue atrophy	OMIM:601596
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly, Sparse lateral eyebrow, Microdontia	OMIM:261990
Adams-Oliver Syndrome 1	Cleft upper lip, Calvarial skull defect, Encephalocele, Microcephaly, Microphthalmia, Cleft palate	OMIM:100300
Dihydropyrimidinase Deficiency	Microcephaly, Anal atresia, Plagiocephaly	OMIM:222748
Galloway-Mowat Syndrome 4	Plagiocephaly, Primary microcephaly	OMIM:617730
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Pallor	ORPHA:98849
Fibrochondrogenesis	Plagiocephaly, Narrow mouth, Cleft palate, Downslanted palpebral fissures	ORPHA:2021
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth, Pallor, Hydrocephalus, Craniosynostosis	ORPHA:667
Noonan Syndrome With Multiple Lentigines	Intrauterine growth retardation, Excessive wrinkled skin, Brachycephaly, Ptosis, Spina bifida occ...	ORPHA:500
Adenohypophysitis	Pallor	ORPHA:95512
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Congenital pyloric atresia, Esophageal atresia	OMIM:226730
Traboulsi Syndrome	Bifid uvula, Dental malocclusion, Downslanted palpebral fissures, Microphthalmia, Spontaneous con...	OMIM:601552
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Fraser Syndrome 2	Intestinal malrotation, Cryptophthalmos, Narrow mouth, Rectal atresia, Microphthalmia, Anal atresia	OMIM:617666
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Highly arched eyebrow, Plagiocephaly, Dental crowding, Downslanted palpebral fissures, Open bite,...	OMIM:620083
Coffin-Siris Syndrome 1	High palate, Duodenal ulcer, Gastric ulcer, Plagiocephaly, Downslanted palpebral fissures, Long e...	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	Phthisis bulbi, Remnants of the hyaloid vascular system, Microphthalmia, Buphthalmos, Iris coloboma	OMIM:221900
Panhypophysitis	Pallor	ORPHA:95513
Fanconi Anemia, Complementation Group F	Microcephaly, Intrauterine growth retardation, Duodenal atresia, Microphthalmia	OMIM:603467
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Celiac disease, Steatorrhea, Ascites, Portal hype...	ORPHA:186
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly, Congenital fibrosis of extraocular muscles, Ptosis, Levator palpebrae superioris a...	ORPHA:45358
Aregenerative Anemia	Pallor	ORPHA:101096
Tarp Syndrome	Short palpebral fissure, Meckel diverticulum, Intrauterine growth retardation, High palate, Gloss...	OMIM:311900
Distal Deletion 12Q	High, narrow palate, Microglossia, Long philtrum, Downslanted palpebral fissures, Telecanthus, Me...	ORPHA:96149
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl...	ORPHA:288
Pallister-Hall Syndrome	Microglossia, Natal tooth, Cleft upper lip, Anteriorly placed anus, Intrauterine growth retardati...	OMIM:146510
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hamartoma of tongue, Intestinal malrotation, Intrauterine growth retardation, Median...	OMIM:269860
Cerebellar Ataxia-Hypogonadism Syndrome	Brachycephaly	ORPHA:1173
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Downslanted palpebral fissures, Intrauterine growth retardation...	ORPHA:958
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Highly arched eyebrow, Plagiocephaly, Downturned corners of mouth, Long philtrum, Downslanted pal...	ORPHA:444077
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Downslanted palpebral fissures, Long palpebral fissure, Brachycephaly, Deep ...	OMIM:227330
Atelosteogenesis Type Ii	Plagiocephaly, Long philtrum, Telecanthus, Bilateral cleft palate, Thin upper lip vermilion, Epic...	ORPHA:56304
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Progr...	OMIM:609049
Alpha-Mannosidosis, Infantile Form	Highly arched eyebrow, Cranial hyperostosis, Widely spaced teeth, Umbilical hernia, Thickened cal...	ORPHA:309282
Ulnar-Mammary Syndrome	Abnormality of the uterus, Breast aplasia, Cryptorchidism, Hypoplastic nipples, Anal atresia, Ect...	ORPHA:3138
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Tongue atrophy	OMIM:620285
Mesomelic Dysplasia, Nievergelt Type	Dolichocephaly, Brachycephaly	ORPHA:2633
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth	ORPHA:1839
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, Telecanthus, Narrow mouth, Jejunal atresia, Hypodontia, High pa...	ORPHA:989
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to...	ORPHA:2751
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Sparse eyebrow, Plagiocephaly, Short lingual frenulum, Craniosynostosis, High palate, Wide mouth	ORPHA:1521
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Microcephaly, Brachycephaly, Plagiocephaly, Hydrocephalus	ORPHA:500055
Fryns Syndrome	Meckel diverticulum, Long philtrum, Cleft upper lip, Intestinal malrotation, Tented upper lip ver...	OMIM:229850
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Open mouth, Upper eyelid entropion, Hydrocephalus, Optic nerve hypoplasia	ORPHA:457284
Multiple Endocrine Neoplasia Type 2	Abnormal tongue morphology, Ganglioneuromatosis, Pallor, Aganglionic megacolon, Thick vermilion b...	ORPHA:653
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormality of the orbital region, Brachycephaly, Iris coloboma, Pterygium	ORPHA:371428
Witteveen-Kolk Syndrome	High, narrow palate, Iris coloboma, Short palpebral fissure, Medial flaring of the eyebrow, Branc...	OMIM:613406
Neuroblastoma	Anemic pallor, Horner syndrome	ORPHA:635
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Long philtrum, Umbilical hernia, Intestinal malrotation, Downslanted palpebral fissures, Telecant...	OMIM:601776
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Downslanted palpebral fissures, Glossoptosis, Iris coloboma, Cleft palate	ORPHA:436003
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Cryptorchidism, Midgut malrotation, Micropenis, Cleft palate, Pyloric stenosis	OMIM:263750
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, Carious teeth, Plagiocephaly, Long philtrum, Frontal bossing, Microdon...	ORPHA:536467
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Erythema, Villous atrophy, Pallor	OMIM:557000
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Papillorenal Syndrome	Orbital cyst, Retinal coloboma, Optic disc coloboma, Microphthalmia	OMIM:120330
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Downturned corners of mouth, Long philtrum, Tented upper lip vermilion, Upsl...	ORPHA:369837
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Narrow mouth, Downturned corners of mouth, Thin upper lip vermilion, Hypodontia, Ent...	ORPHA:3455
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Chorioretinal coloboma, Ankyloglossia, High palate, Iris coloboma, High, narrow palate, Plagiocep...	OMIM:619475
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Plagiocephaly, Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Alveolar ridg...	OMIM:301072
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short palpebral fissure, Spinal dysraphism, Plagiocephaly, Long philtrum, Intrauterine growth ret...	ORPHA:96334
Cornelia De Lange Syndrome	High palate, Downturned corners of mouth, Long eyelashes, Thin vermilion border, Blepharitis, Cle...	ORPHA:199
Cartilage-Hair Hypoplasia	Anal stenosis, Sparse eyebrow, Sparse eyelashes, Aganglionic megacolon, Brachycephaly, Esophageal...	OMIM:250250
Phace Syndrome	Microcephaly, Ptosis, Microphthalmia, Abnormality of the orbital region, Lens coloboma, Iris colo...	ORPHA:42775
Phace Association	Optic nerve hypoplasia, Horner syndrome, Microphthalmia	OMIM:606519
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Abnormality of endocrine pancreas physiology, Abnormality of exocrine pancre...	ORPHA:93111
Orofaciodigital Syndrome Type 3	Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition, Lobulated to...	ORPHA:2752
Orofaciodigital Syndrome Type 14	Retinal coloboma, Hamartoma of tongue, Trigonocephaly, Telecanthus, Accessory oral frenulum, Upsl...	ORPHA:434179
Xeroderma Pigmentosum, Complementation Group B	Microcephaly, Microphthalmia	OMIM:610651
Alg12-Cdg	Posterior plagiocephaly, Intestinal malrotation, Intrauterine growth retardation, Redundant skin,...	ORPHA:79324
Catel-Manzke Syndrome	Bifid uvula, Cleft upper lip, Umbilical hernia, Thin eyebrow, Intrauterine growth retardation, Na...	OMIM:616145
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Dry skin, Cleft soft palate, Narrow mouth, High palate, Esophageal varix, Downturned co...	OMIM:619503
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Peters Plus Syndrome	Iris coloboma, Short palpebral fissure, Long philtrum, Umbilical hernia, Intestinal fistula, Clef...	ORPHA:709
Tetraamelia Syndrome 2	Ankyloglossia, Glossoptosis, Cleft palate, Bilateral cleft lip	OMIM:618021
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis	ORPHA:93346
Cerebrocostomandibular Syndrome	Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Downslanted palpe...	OMIM:117650
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Diastema, Bicoronal synostosis, Agenesis of molar, Anterior plagiocephaly, Microdontia, Supernume...	OMIM:619718
Isolated Arrhinia	Eyelid coloboma, Microphthalmia	ORPHA:1134
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Glossitis, Epicanthus, Tracheoesophageal fistula, High palate, Stomatitis	OMIM:277380
Alg9-Cdg	Bifid uvula, Long philtrum, Frontal bossing, Telecanthus, Villous atrophy, Thin upper lip vermili...	ORPHA:79328
Robinow Syndrome	Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Umbilical hernia, Ankylog...	ORPHA:97360
Cockayne Syndrome	Carious teeth, Dental malocclusion, Premature skin wrinkling, Agenesis of permanent teeth, Abnorm...	ORPHA:191
Fucosidosis	Abnormality of the dentition, Brachycephaly	ORPHA:349
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis	ORPHA:2483
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Plagiocephaly, Dental crowding, Widely spaced teeth, Frontal bossing, Downsl...	ORPHA:466791
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Furrowed tongue, Intrauterine growth retardation, ...	ORPHA:769
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Tracheoesophageal fistula, Esophageal atresia	OMIM:619859
Stuve-Wiedemann Syndrome 1	Short palpebral fissure, Carious teeth, Smooth tongue, Pursed lips, Premature skin wrinkling, Int...	OMIM:601559
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Cleft lip, Epicanthus, Brachycephaly, Narrow palate, Cleft palate	OMIM:618223
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Hyperparathyroidism, Transient Neonatal	Brachycephaly, Communicating hydrocephalus, Frontal bossing, Umbilical hernia	OMIM:618188
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Brachycephaly	OMIM:610968
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrophy, Decreased pro...	OMIM:619381
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Ptosis, Tongue atrophy	OMIM:211530
Tarp Syndrome	Short palpebral fissure, Intrauterine growth retardation, Thick eyebrow, Alveolar ridge overgrowt...	ORPHA:2886
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Thin upper lip vermilion, Secondary microcephaly, Brachycephaly	ORPHA:456312
X-Linked Intellectual Disability, Armfield Type	Downturned corners of mouth, Downslanted palpebral fissures, Epicanthus, Brachycephaly, Short phi...	ORPHA:85276
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion, Optic disc coloboma, Microphthalmia	OMIM:608940
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Plagiocephaly, Narrow mouth, Upslanted palpebral fissure, Epicanthus, Long palpebral fissure, Syn...	OMIM:620455
Roberts-Sc Phocomelia Syndrome	Cleft upper lip, Downslanted palpebral fissures, Eyelid coloboma, Microcephaly, Brachycephaly, Co...	OMIM:268300
Otospondylomegaepiphyseal Dysplasia	Bifid uvula, Glossoptosis, Cleft palate	ORPHA:1427
Distal Deletion 15Q	Abnormality of the dentition, Intrauterine growth retardation, Upslanted palpebral fissure, Thin ...	ORPHA:1596
Idiopathic Hypereosinophilic Syndrome	Colitis, Pallor	ORPHA:3260
Tsh-Secreting Pituitary Adenoma	Ptosis, Pallor	ORPHA:91347
Infection-Related Hemolytic Uremic Syndrome	Pallor, Acute colitis, Intestinal perforation, Intussusception	ORPHA:544482
Bazex-Dupre-Christol Syndrome	Furrowed tongue	OMIM:301845
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Coloboma, Microphthalmia	ORPHA:85167
8Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Branchial cyst, Long philtrum, Bilateral microphthalmos, Retinal coloboma,...	ORPHA:508488
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Spl...	OMIM:612132
Pallister-Hall Syndrome	Bifid uvula, Cleft lip, Natal tooth, Microglossia, Umbilical hernia, Downslanted palpebral fissur...	ORPHA:672
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse eyebrow, Long philtrum, Narrow mouth, Hypodontia, Brachycephaly, Intra-oral hyperpigmentat...	OMIM:619127
Metaphyseal Chondrodysplasia, Jansen Type	Tooth malposition, Brachycephaly	OMIM:156400
6Q Terminal Deletion Syndrome	High, narrow palate, Highly arched eyebrow, Short palpebral fissure, Plagiocephaly, Thick vermili...	ORPHA:75857
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Microglossia, Hamartoma of tongue, Intestinal malrotation, Median cleft upper lip, Brachycephaly,...	OMIM:263520
Mowat-Wilson Syndrome	Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Chorioretinal...	OMIM:235730
Giant Cell Arteritis	Glossitis, Ptosis, Skin ulcer	ORPHA:397
Methylmalonic Acidemia With Homocystinuria Type Cblf	Glossitis, Intrauterine growth retardation, Stomatitis, Cleft palate	ORPHA:79284
Cowden Syndrome 5	Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis	OMIM:615108
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hamartomatous polyposis, Glossitis, Protein-losing enteropathy, Xerostomia	OMIM:175500
Hartnup Disease	Gingivitis, Glossitis	ORPHA:2116
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of the dentition, Carious teeth, Anoperineal fistula, Chapped lip, Abnormal tongue mo...	ORPHA:158668
Viss Syndrome	Cleft soft palate, Celiac disease, High palate, Duodenitis, High, narrow palate, Broad uvula, Chr...	OMIM:619472
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Meningocele, Dermal sinus tract	OMIM:600145
Cowden Syndrome 6	Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis	OMIM:615109
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Horizontal eyebrow, Long philtrum, Cleft upper lip, Optic disc coloboma, Downslanted...	OMIM:607872
Tetraamelia Syndrome 1	Cleft upper lip, Hydrocephalus, Microphthalmia, Anal atresia, Cleft palate	OMIM:273395
Multicentric Osteolysis, Nodulosis, And Arthropathy	Brachycephaly, Gingival overgrowth, Frontal bossing, Delayed eruption of teeth	OMIM:259600
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Abnormality of the dentition, Plagiocephaly, Thick lower lip vermilion, Persis...	ORPHA:2785
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Pallor	ORPHA:892
Kawasaki Disease	Strawberry tongue, Lip fissure, Conjunctival hyperemia, Palmoplantar erythema, Ptosis, Scaling sk...	ORPHA:2331
Cleidocranial Dysplasia 2	Supernumerary tooth, Plagiocephaly, Delayed eruption of primary teeth	OMIM:620099
Hydrolethalus Syndrome 1	Intrauterine growth retardation, Median cleft upper lip, Microphthalmia, Anencephaly, Cleft palat...	OMIM:236680
Cockayne Syndrome Type 3	Carious teeth, Progressive microcephaly, Enamel hypoplasia, Keratoconjunctivitis sicca, Microphth...	ORPHA:90324
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela...	ORPHA:666
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Secondary microcephaly, Thin upper lip vermilion, Brachycephaly, Progressive microcephaly, Steato...	OMIM:616263
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy, Optic nerve hypoplasia	ORPHA:101085
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Thick lower lip vermilion, Epicanthus, Brachycephaly, Microcephaly, Thick vermilion border, Synop...	OMIM:610442
Trichorhinophalangeal Syndrome, Type Ii	Carious teeth, Plagiocephaly, Skull asymmetry, Chronic gastritis, Prominent palatine ridges, Dry ...	OMIM:150230
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Abnormality of the dentition, Tooth malposition, Short palpebral fissure, Long philtrum, Downslan...	ORPHA:480880
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Anteriorly placed anus, Narrow mouth, Turricephaly, Brachycephaly, Hydroceph...	ORPHA:95699
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Downslanted palpebral fissures, Abnormal palate morphology, Hydrocephalus, Synophrys	ORPHA:3042
Cowden Syndrome 1	Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis	OMIM:158350
Myopathy, Myofibrillar, 7	Tongue atrophy	OMIM:617114
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Intrauterine growth retardation, Smooth philtrum, Microcephaly, Hydrocephalus, Glossitis, Stomati...	ORPHA:79282
Congenital Disorder Of Deglycosylation 1	Microcephaly, Brachycephaly, Ptosis, Open mouth	OMIM:615273
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Smooth tongue, Oral mucosal blisters, Enamel hypoplasia, Craniosynostosis	ORPHA:79396
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Brachycephaly, Ptosis, Spina bifida, Cleft palate	OMIM:274000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Skin ulcer, Ecchymosis, Brachycephaly, Ptosis, Hydrocephalus, Gastric ulcer, Esophageal varix	ORPHA:2072
Partial Androgen Insensitivity Syndrome	Azoospermia, Male sexual dysfunction, Male infertility, Primary amenorrhea	ORPHA:90797
Aicardi-Goutières Syndrome	Plagiocephaly, Dry skin, Eyelid coloboma, Microcephaly, Ptosis	ORPHA:51
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Bifid tongue, Anal atresia, Cleft p...	OMIM:613091
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Keratoconjunctivitis, Erythematous oral mucosa	OMIM:158310
Amyotrophic Lateral Sclerosis	Tongue atrophy, Xerostomia	ORPHA:803
1P36 Deletion Syndrome	Horizontal eyebrow, Long philtrum, Abnormal eyebrow morphology, Narrow mouth, Abnormal intestine ...	ORPHA:1606
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Imperforate hymen, Axillary apocrine gland hypoplasia...	OMIM:181450
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Intestinal atresia	ORPHA:79403
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Secondary microcephaly, Open mouth, Microphthalmia, Iris coloboma, Primary mic...	ORPHA:261537
Mowat-Wilson Syndrome	Tooth malposition, Open mouth, Everted lower lip vermilion, Microphthalmia, Iris coloboma, Entero...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Secondary microcephaly, Open mouth, Epicanthus, Microphthalmia, Iris coloboma,...	ORPHA:261552
Autosomal Dominant Kenny-Caffey Syndrome	Intrauterine growth retardation, Carious teeth, Persistence of primary teeth, Bilateral microphth...	ORPHA:93325
Stickler Syndrome	Bifid uvula, Long philtrum, Cleft upper lip, Open bite, Abnormal dental enamel morphology, Tooth ...	ORPHA:828
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microcephaly, Microphthalmia	OMIM:259770
Pachyonychia Congenita 3	Gingivitis, Furrowed tongue, Oral leukoplakia, Chapped lip	OMIM:615726
Aromatase Deficiency	Female infertility, Hypergonadotropic hypogonadism, Male infertility, Primary amenorrhea	ORPHA:91
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Spondyloepiphyseal Dysplasia Congenita	Glossoptosis, Cleft palate	ORPHA:94068
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700
Generalized Pustular Psoriasis	Cheilitis, Geographic tongue	ORPHA:247353
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Cleft lip, Meckel diverticulum, Intestinal malrotation, Bra...	OMIM:265380
Townes-Brocks Syndrome	Iris coloboma, Anteriorly placed anus, Chorioretinal coloboma, Limbal dermoid, Blepharophimosis, ...	ORPHA:857
Aspartylglucosaminuria	Thick lower lip vermilion, Thickened calvaria, Microcephaly, Brachycephaly, Macroglossia, Wide mouth	OMIM:208400
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Microcephaly, Remnants of the hyaloid vascular system, Ap...	ORPHA:649
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy	ORPHA:99949
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Epicanthus, Plagiocephaly, Microcephaly, Chalazion	OMIM:613355
Liver Disease, Severe Congenital	Protein-losing enteropathy, Plagiocephaly, Umbilical hernia, Chronic gastritis, Intrauterine grow...	OMIM:619991
Cowden Syndrome	Furrowed tongue, Conjunctival hamartoma, Colorectal polyposis, Macroglossia, High palate, Hamarto...	ORPHA:201
Epidermolysis Bullosa Simplex With Pyloric Atresia	Congenital pyloric atresia	ORPHA:158684
Williams Syndrome	Precocious puberty, Cholelithiasis, Gastroesophageal reflux, Peptic ulcer, Colonic diverticula, C...	ORPHA:904
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Microcephaly, Tongue atrophy	ORPHA:466768
Primrose Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Downslanted palpebral fissures, Narrow mo...	OMIM:259050
Plague	Inflammation of the large intestine, Skin ulcer, Chapped lip, Dry skin, Ileitis, Conjunctival hyp...	ORPHA:707
Glucagonoma	Necrolytic migratory erythema, Intestinal obstruction, Steatorrhea, Glossitis, Stomatitis	ORPHA:97280
Goodpasture Syndrome	Pallor	OMIM:233450
Lowe Oculocerebrorenal Syndrome	Enamel hypoplasia, Microphthalmia	OMIM:309000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Long philtrum, Cleft upper lip, Epicanthus, Ectopic anus, Esophageal atresia, Bifid tongue, Anal ...	ORPHA:93271
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Hydrocephalus, Microphthalmia	OMIM:175780
Microsporidiosis	Keratoconjunctivitis, Glossitis	ORPHA:2552
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Anteriorly placed anus, Microcephaly, Brachycephaly, Craniosynostosis, Frontal bossing, Cloverlea...	OMIM:201750
Stüve-Wiedemann Syndrome	Abnormality of the dentition, Intrauterine growth retardation, Smooth tongue	ORPHA:3206
Carney Complex	Abnormal hard palate morphology, Striae distensae, Esophageal neoplasm, Neoplasm of the rectum, N...	ORPHA:1359
Congenital Total Pulmonary Venous Return Anomaly	Pallor	ORPHA:99125

Histopathology

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

There is no histopathology data for Tmem209

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

IMPC related publications

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

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

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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tmem209 MGI:1919899

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E18.5

Gross Pathology and Tissue Collection

X-ray

X-ray

X-ray

Histopathology

Immunophenotyping

Immunophenotyping

Human diseases caused by Tmem209 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data