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Gene: Mink1 MGI:1355329

Gene Summary

Name:

misshapen-like kinase 1 (zebrafish)

Synonyms:

Map4k6, Misshapen/NIKs-related kinase, MINK, Ysk2

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 tooth morphology	Mink1^em1(IMPC)Tcp	HOM	Early adult
small uterus	Mink1^em1(IMPC)Tcp	HOM	Early adult
abnormal sternum morphology	Mink1^em1(IMPC)Tcp	HOM	Early adult
abnormal skin morphology	Mink1^em1(IMPC)Tcp	HOM	Early adult
microphthalmia	Mink1^em1(IMPC)Tcp	HOM	Early adult
enlarged lymph nodes	Mink1^em1(IMPC)Tcp	HOM	Early adult
enlarged kidney	Mink1^em1(IMPC)Tcp	HOM	Early adult

Download data as: TSV XLS

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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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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

27 Images

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Eye Morphology

Images Ophthalmoscopy

97 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Mink1 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 Mink1 (0 diseases)
Human diseases predicted to be associated with Mink1 (712 diseases)

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

The table below shows human diseases predicted to be associated to Mink1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Athrombia, Essential	Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega...	OMIM:209050
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts	OMIM:618462
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos...	OMIM:619130
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:615888
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce...	OMIM:173590
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Bleeding Disorder, Platelet-Type, 24	Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele...	OMIM:619271
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb...	OMIM:124900
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre...	OMIM:273800
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc...	OMIM:614201
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg...	OMIM:609821
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg...	OMIM:187950
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ...	ORPHA:849
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Thrombocytopenia, Abnormal platelet function	ORPHA:231393
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility...	OMIM:614009
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi...	OMIM:187800
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,...	OMIM:155100
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili...	OMIM:605735
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi...	OMIM:601709
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men...	OMIM:617443
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg...	OMIM:614076
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist...	OMIM:139090
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope...	OMIM:187900
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Prolonged bleeding time, Epistaxis, Bruising susceptibility, Impaired platelet aggregation, Abnor...	OMIM:601399
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ...	OMIM:614072
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume	OMIM:185050
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced plat...	OMIM:153670
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Abnormal pl...	ORPHA:238459
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Epistaxis, Increased mean platelet volume, Reduced platelet alpha granul...	OMIM:314050
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet...	OMIM:614074
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc...	ORPHA:274
Meckel Syndrome, Type 8	Anophthalmia, Cleft upper lip, Cleft palate, Polydactyly, Polycystic kidney dysplasia, Ambiguous ...	OMIM:613885
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Immunodeficiency 81	Reduced natural killer cell activity, Reduced antigen-specific T cell proliferation, Impaired neu...	OMIM:619374
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,...	OMIM:614075
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Ataxia-Pancytopenia Syndrome	Abnormal platelet function, Decreased circulating antibody level	ORPHA:2585
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ...	ORPHA:182050
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Micrognathia, Abnorma...	OMIM:601076
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding	ORPHA:1059
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Split foot, Triphalange...	ORPHA:3434
Hermansky-Pudlak Syndrome 11	Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind...	OMIM:619172
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia	OMIM:300835
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time	ORPHA:638
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Essential Thrombocythemia	Prolonged bleeding time, Abnormality of thrombocytes, Abnormal platelet morphology	ORPHA:3318
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H...	OMIM:613091
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Wolfram Syndrome 2	Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre...	OMIM:604928
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag...	ORPHA:2791
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Microphthalmia, Isolated 4	Microphthalmia, Absent testis, Postaxial polydactyly	OMIM:613094
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation	OMIM:618372
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Enlarged kidney, Hepatomegaly	OMIM:615285
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Microcephaly-Microcornea Syndrome, Seemanova Type	High palate, Hypogonadism, Narrow mouth, Microphthalmia, Retrognathia	ORPHA:2528
Microphthalmia, Syndromic 12	Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Bicornuate uterus, Microphthalmia, Retr...	OMIM:615524
Congenital Disorder Of Glycosylation, Type Iif	Subcutaneous hemorrhage, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytope...	OMIM:603585
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate, Hepatomegaly	ORPHA:2432
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Rocker bottom foot, Cleft palate, Micrognathia	OMIM:616570
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Abnormal oral mucosa morphology, Chronic ki...	ORPHA:85445
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cryptorchidism, Orofacial cleft, Cleft palate, Widely-spa...	OMIM:601349
Dental Ankylosis	Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel morphology, Mandibular pro...	ORPHA:1077
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral ...	OMIM:617914
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Hermansky-Pudlak Syndrome 8	Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble...	OMIM:614077
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Intracranial hemorrhage, Bone marrow hypocellularity, Bruising susceptib...	ORPHA:3226
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hip dysplasia...	ORPHA:195
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft	OMIM:611638
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Seckel Syndrome 2	Hypospadias, Micrognathia, Ectopic kidney, Microdontia, Clinodactyly of the 5th finger, Microphth...	OMIM:606744
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Satoyoshi Syndrome	Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ...	ORPHA:3130
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Preaxial polydactyly, Hypogonadism, Microphthalmia	ORPHA:141333
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Meckel Syndrome 12	Ureteral hypoplasia, Rocker bottom foot, Micrognathia, Renal hypoplasia, Hypoplasia of the uterus...	OMIM:616258
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Endocrine-Cerebroosteodysplasia	Small scrotum, Micrognathia, Preaxial polydactyly, Tibial bowing, Sex reversal, Microphallus, Thi...	OMIM:612651
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries	ORPHA:90301
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Micrognathia	OMIM:618272
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Sitosterolemia 1	Abnormal bleeding, Giant platelets, Impaired platelet aggregation, Thrombocytopenia	OMIM:210250
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Proximal placement of thumb, Micrognathia, Abnormal rib morphology, Dow...	ORPHA:93267
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Cleft palate, Sex reversal, Hydronephros...	OMIM:154230
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Prolonged prothrombin time, Epistaxis	OMIM:610842
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage	ORPHA:90308
Pierpont Syndrome	Long upper lip, Cryptorchidism, Short toe, Short foot, Broad philtrum, Prominent median palatal r...	OMIM:602342
Pierpont Syndrome	Thin upper lip vermilion, Cryptorchidism, Short toe, Broad philtrum, Thin vermilion border, Widel...	ORPHA:487825
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th...	ORPHA:324636
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Diaphanospondylodysostosis	Nephrogenic rest, Missing ribs, Micrognathia, Nephroblastomatosis, Horseshoe kidney, Cleft palate...	OMIM:608022
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Unilateral renal agenesis, Undulate ribs, Femoral bowing, Thin ri...	OMIM:618188
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept...	OMIM:203300
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal external genitalia, Narrow mouth, Abnormal morphology of the radius	ORPHA:3469
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Thin ribs, Micropenis, Slender long bone, Aniridia, Microphthalmia, ...	OMIM:602361
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:600251
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Metaphyseal widening, Clubbing, Nephrotic syndrome, Flar...	OMIM:617303
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Spleno...	ORPHA:464329
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Cleft palate, Hypoplasia of the uterus, Short philtrum, Abnormal vagina morpholog...	ORPHA:247768
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi...	OMIM:615297
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Retrognathia	OMIM:619981
Trisomy 13	Anophthalmia, Median cleft lip, Displacement of the urethral meatus, Abnormality of the dentition...	ORPHA:3378
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Multilob...	OMIM:601186
Temtamy Syndrome	Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Clinodactyly of the 5th finger, M...	ORPHA:1777
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im...	OMIM:608233
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Renal cyst, Cleft palate, ...	OMIM:611561
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Abnormally large globe, Micrognathia, Hypoplastic pubic bone, Gingiv...	OMIM:614592
Cofs Syndrome	Camptodactyly of finger, Micrognathia, Everted lower lip vermilion, Hypogonadism, Microphthalmia	ORPHA:1466
Moebius Syndrome	Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Micrognathia, Abnormality of the dentit...	OMIM:157900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Hip contracture, Microretrognathia, Coxa valga, Micrognathia, Carious teet...	OMIM:618363
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Hydrocele testis, Foot pol...	ORPHA:276280
Osteogenesis Imperfecta, Type Xvi	Prolonged bleeding time, Bruising susceptibility	OMIM:616229
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Ureteral duplication, Hepatomegaly, Renal insufficiency, Tapered toe, Renal dysplasia, ...	OMIM:608836
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, ...	ORPHA:163966
Microphthalmia With Limb Anomalies	Anophthalmia, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5t...	OMIM:206920
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly	OMIM:610023
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Abnormal spleen morphology, Abn...	ORPHA:2470
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Short t...	OMIM:609441
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu v...	ORPHA:3320
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Cleft palate, Tooth agenesis, High palate, Microphthalmia	ORPHA:1135
Nanophthalmos 4	Microphthalmia	OMIM:615972
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Hydrolethalus	Anophthalmia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard pala...	ORPHA:2189
Satoyoshi Syndrome	Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,...	OMIM:600705
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Postaxial foot polydactyly, Mic...	OMIM:615665
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Optic nerve hypoplasia, Cryptorchidism, Pos...	ORPHA:85284
H Syndrome	Hallux valgus, Abnormality of the kidney, Cleft upper lip, Gingival overgrowth, Lymphadenopathy, ...	ORPHA:168569
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Mi...	OMIM:616300
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Hepatome...	OMIM:252500
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Asplenia, Femoral bowing, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Seckel Syndrome 7	Abnormal carpal morphology, Hypoplasia of the uterus, Hip dysplasia, Clinodactyly of the 5th fing...	OMIM:614851
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Renal malrotation, Hypoplasia of the uterus, High palate, Short philtr...	OMIM:615866
Warburg Micro Syndrome 1	Overlapping toe, External genital hypoplasia, Micrognathia, Cryptorchidism, Thin vermilion border...	OMIM:600118
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda...	OMIM:257850
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Hy...	OMIM:314390
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic renal dysplasia	OMIM:613730
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Fanconi Anemia, Complementation Group S	Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Ovarian neoplasm, O...	OMIM:617883
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Short thumb, Submucous cleft hard palate...	ORPHA:2712
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Mgat2-Cdg	Abnormal bleeding, Decreased circulating IgG level, Impaired platelet aggregation, Decreased circ...	ORPHA:79329
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Micrognathia, Widely spaced teeth, Camptodactyly, Microdontia, Microphtha...	OMIM:619694
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Bone marrow hypocellularity	OMIM:609054
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malocclusion, Oligo...	OMIM:618727
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu...	OMIM:136760
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Anophthalmia, Cryptorchidism, Cleft palate, Microphthalmia	OMIM:164180
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Hematemesis, Thrombocyto...	ORPHA:906
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li...	OMIM:119500
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Multicystic kidney dysplasia, Missing ribs, Micrognathia, Cryptorchidism, ...	ORPHA:3301
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, Lens coloboma, 2-3 toe syndactyly, Renal hypopla...	OMIM:618914
Ring Chromosome 10 Syndrome	Sandal gap, Renal hypoplasia/aplasia, Micrognathia, Tapered finger, Thin vermilion border, Long p...	ORPHA:1438
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Abnormally large globe, Co...	OMIM:269300
Nance-Horan Syndrome	Mandibular prognathia, Short metacarpal, Abnormality of the dentition, Supernumerary tooth, Micro...	ORPHA:627
Amed Syndrome, Digenic	Hypoplasia of the uterus, Long thumb, Bone marrow hypocellularity	OMIM:619151
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Clubbing of fingers, Gingival bleeding, Left ventricul...	ORPHA:335
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Macrosc...	ORPHA:251004
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Malar prominence, Micrognathia, Microphth...	ORPHA:48431
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentition, Non-obstructive...	ORPHA:432
Alg9-Cdg	Microretrognathia, Hepatomegaly, Hypoplasia of the bladder, Smooth philtrum, Thin upper lip vermi...	ORPHA:79328
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Microphthalmia, Micropenis	OMIM:610756
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Overlapping fingers, Overlapping toe, Unilateral renal agenesis, Crypto...	OMIM:618494
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Renal And Mullerian Duct Hypoplasia	Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele...	OMIM:266810
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me...	OMIM:300863
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Unilateral renal agenesis, Bifid distal phalanx of the thumb, Hypoplasia of the...	OMIM:618419
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Congenital Toxoplasmosis	Hepatomegaly, Microphthalmia, Cardiomegaly, Lymphadenopathy	ORPHA:858
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria	OMIM:274270
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri...	OMIM:302350
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Small hand, Bilateral cle...	OMIM:619339
Microphthalmia, Syndromic 13	Microphthalmia, Widely-spaced incisors	OMIM:300915
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney	OMIM:619318
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced...	OMIM:615873
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Fanconi Anemia, Complementation Group R	Absent thumb, Agenesis of permanent teeth, Bone marrow hypocellularity, Microphthalmia, Pelvic ki...	OMIM:617244
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Polydactyly, Microphthalmia, Nephroblastoma, Smooth philtrum	OMIM:602501
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Micrognathia, Cryptorchidism, Carious ...	OMIM:214150
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Micrognathia, Flat acetabular roof, Flattened epiphysis, Oligosacchariduria, Downturn...	ORPHA:163649
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Micrognathia	OMIM:616171
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, ...	ORPHA:568
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teet...	ORPHA:2728
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Cousin Syndrome	Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male...	OMIM:260660
Macs Syndrome	Prolonged bleeding time, Bruising susceptibility	OMIM:613075
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura	ORPHA:809
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Ureteral atresia, Stage 5 chronic kidn...	OMIM:208540
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Medullary nephroc...	OMIM:613312
Hartsfield Syndrome	Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius, Microphthalmia	ORPHA:2117
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Camptodactyly of finger, Fifth finger distal phalanx ...	ORPHA:2839
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Oral ulcer, Focal segmental glomerulosc...	OMIM:232220
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Epistaxis, Increased circulating IgA level, Hematemesis, Reduced natural...	OMIM:301000
Monosomy 18P	Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti...	ORPHA:1598
Acquired Purpura Fulminans	Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb...	ORPHA:49566
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars...	OMIM:609945
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, O...	OMIM:602450
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Renal cyst, Narrow greater sciatic notch, Short palm, Hepatomegaly, Exagge...	OMIM:312870
Joubert Syndrome 37	Decreased testicular size, Hepatomegaly, Postaxial polydactyly, Cryptorchidism, High palate, Micr...	OMIM:619185
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia, Retrognathia	OMIM:614583
Temtamy Syndrome	Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Long philtrum...	OMIM:218340
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia, High palate, Microphthalmia	OMIM:619053
Perrault Syndrome 4	Hypoplasia of the uterus, Cleft palate, Bicornuate uterus, Hypoplasia of the ovary	OMIM:615300
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time	OMIM:616483
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Phocomelia, Hepatomegaly, Mu...	ORPHA:2538
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short ...	OMIM:619148
Mosaic Trisomy 9	Hypoplasia of penis, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Asplenia, Cryptor...	ORPHA:99776
Lymphoid Interstitial Pneumonia	Mediastinal lymphadenopathy, Clubbing, Enlarged kidney, Hepatomegaly	ORPHA:79128
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen...	ORPHA:435638
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Micropenis, Syndactyly, Mesoaxial foot polydactyly, Distal urethral d...	OMIM:146510
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Meckel Syndrome, Type 2	Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Cleft palate, Polydactyly, Micr...	OMIM:603194
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Endometriosis, Micrognathia, Unilateral renal agenesis, Cario...	OMIM:613680
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Cryptorchidism, Deep philtrum, 2-3...	ORPHA:404440
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Carious teeth, Stage 5 chronic kidney disease, Nephrolithiasis, Polycy...	ORPHA:79259
Mosaic Trisomy 1	Renal cyst, Orofacial cleft, Finger clinodactyly, Micropenis, Absent distal interphalangeal creas...	ORPHA:1692
Meacham Syndrome	Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic...	OMIM:608978
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Marden-Walker Syndrome	Arachnodactyly, Hypospadias, Micrognathia, Cryptorchidism, High, narrow palate, Narrow mouth, Ren...	OMIM:248700
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Broad hallux, Methylmalonic a...	OMIM:614105
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Postaxial hand polydactyly, Polysplenia, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism	ORPHA:363741
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox...	OMIM:146255
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Overlapping toe, Abnormality of the kidney, Hypospadias, Unil...	ORPHA:363444
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Short philtrum, Finger...	OMIM:212720
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Orofacial cleft	ORPHA:324416
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic k...	OMIM:614527
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica...	OMIM:204690
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Pos...	OMIM:619879
Enamel-Renal Syndrome	Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam...	ORPHA:1031
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Isosexual precocious puberty, Metaphyseal widening, Abnormal femoral neck/he...	ORPHA:2788
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Abnormal thumb morphology, Metatarsus adductus, ...	ORPHA:500095
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Microphthalmia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Cutaneous syndactyly, Ureteral agene...	OMIM:617666
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
17Q12 Microduplication Syndrome	Microphthalmia, Toe syndactyly, Finger syndactyly, Cleft palate	ORPHA:261272
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Abnormal renal morph...	OMIM:609053
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Cryptorchidism, Duplication of phalanx of hallux, Orof...	OMIM:243310
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis m...	ORPHA:290
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Ulnar bowing, Sho...	OMIM:619135
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Narrow mouth, Optic nerve hypoplasia, Thin ribs	OMIM:614833
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Pycnodysostosis	Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persistence of primary teeth, Delayed er...	OMIM:265800
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Chédiak-Higashi Syndrome	Abnormal bleeding, Epistaxis, Increased proportion of CD25+ mast cells, Gingival bleeding, Abnorm...	ORPHA:167
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi...	ORPHA:2919
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Narrow mouth, Pierre-Robin sequence, Downturned corners of mo...	OMIM:611961
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and palate,...	OMIM:618874
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Septate vagina, Micrognathia, Hamartoma of tongue, Short tibi...	OMIM:617925
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Micrognathia, Cryptorchidism, Small hand, Short foot, Thin vermilion bo...	OMIM:241410
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr...	ORPHA:505248
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Bilateral cryptorchidism, Downturned corners of mouth, Microphthalmia, Smooth philtrum	OMIM:618652
Ogden Syndrome	Congenital hip dislocation, Cardiomegaly, Micrognathia, Deep philtrum, Short philtrum, High palat...	OMIM:300855
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of finger, Microgn...	ORPHA:284160
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Hypospadias, 2-3 toe syndactyly, Cleft palate, Furrowed tongue, High ...	OMIM:616449
Focal Dermal Hypoplasia	Hypoplasia of the iris, Finger syndactyly, Multicystic kidney dysplasia, Abnormal dental morpholo...	ORPHA:2092
Teebi-Shaltout Syndrome	Syndactyly, Ureteral stenosis, Rocker bottom foot, Prominent palatine ridges, Metatarsus adductus...	OMIM:272950
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Bowing of the leg...	ORPHA:85167
Fryns Syndrome	Multicystic kidney dysplasia, Tented upper lip vermilion, Hypospadias, Median cleft lip, Microgna...	ORPHA:2059
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Renal agenesis, Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly, 2-...	OMIM:264480
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly...	ORPHA:139471
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap, Long philtrum	OMIM:300887
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ...	OMIM:232200
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal...	ORPHA:364577
Ohdo Syndrome, X-Linked	Small scrotum, Overlapping toe, Micrognathia, Short thumb, Cryptorchidism, Long thumb, Narrow mou...	OMIM:300895
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Male urethral meatus sten...	ORPHA:464738
Tetraamelia Syndrome 1	Renal agenesis, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Micrognath...	OMIM:273395
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure...	OMIM:607323
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Conical tooth, Abnormality of the dentition, Cryptorchidism, Hypogonadism, Microph...	ORPHA:228390
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Micrognathia, Bilateral microphthalmos, Flared metap...	OMIM:610758
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Triphalangeal thumb, Vesicoureteral reflux, Finger syndactyly, Hypoplasia ...	ORPHA:959
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hypogonadism, Cryptorchidism	OMIM:601794
Sandestig-Stefanova Syndrome	Rocker bottom foot, Orofacial cleft, High palate, Camptodactyly, Microphthalmia, Clinodactyly, Re...	OMIM:618804
Momo Syndrome	Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi...	ORPHA:2563
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
3Q29 Microdeletion Syndrome	Hypospadias, Dental crowding, Tapered finger, Abnormality of the dentition, Horseshoe kidney, Oro...	ORPHA:65286
Micro Syndrome	Hypoplasia of penis, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Abnormal localizatio...	ORPHA:2510
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Cleft upper lip, Cryptorchidism...	OMIM:612530
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ...	ORPHA:251014
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypopl...	ORPHA:861
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, High palate, Clinodac...	ORPHA:3103
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, Microphthalmia, High palate	OMIM:110100
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer...	OMIM:276700
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchi...	ORPHA:116
Kapur-Toriello Syndrome	Overlapping fingers, Camptodactyly of finger, Cleft upper lip, Short thumb, Cryptorchidism, Cleft...	OMIM:244300
Warburg Micro Syndrome 3	Small scrotum, Micrognathia, Hypoplastic labia minora, Narrow palate, Downturned corners of mouth...	OMIM:614222
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Failure of eruption of permanent teeth, External genital hypop...	ORPHA:2250
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Orofaciodigital Syndrome Iii	Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor...	OMIM:258850
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:77298
Noonan Syndrome 9	Prolonged prothrombin time	OMIM:616559
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Micrognathia, Cryptorchidism, Cleft palate, Abnormality of the scrotu...	ORPHA:2505
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Subaortic Stenosis-Short Stature Syndrome	Microdontia, Microphthalmia, Micrognathia, Synostosis of carpal bones	ORPHA:3191
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Prolonged prothrombin ti...	ORPHA:99147
Meckel Syndrome, Type 4	Bowing of the long bones, Postaxial hand polydactyly, Cleft palate, Renal cyst, Microphthalmia	OMIM:611134
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Hypersplenism, Splenomegal...	ORPHA:731
Cog8-Cdg	Spontaneous hematomas, Prolonged prothrombin time	ORPHA:95428
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of...	OMIM:618571
Meckel Syndrome, Type 1	External genital hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, female, Lobulated tongu...	OMIM:249000
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Tented upper lip vermilion, Proximal placement of thumb, Ren...	OMIM:229850
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Micrognathia, Cryptorchidism, Hypoplasia ...	ORPHA:3412
Microphthalmia, Syndromic 5	Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, Microphthalmia, Micropenis	OMIM:610125
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Meckel Syndrome	Accessory spleen, Ureteral duplication, Bowing of the long bones, Anophthalmia, Multicystic kidne...	ORPHA:564
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia o...	OMIM:610829
Oculodentodigital Dysplasia	Neurogenic bladder, Selective tooth agenesis, Microdontia, Cleft upper lip, Carious teeth, 4-5 fi...	OMIM:164200
Noonan Syndrome	Abnormal bleeding, Abnormal platelet function	ORPHA:648
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Short lingual frenulum, Proximal placement of thu...	OMIM:261540
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Premature loss of t...	OMIM:224300
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius, 2-3 finger syndactyly, Renal...	OMIM:603467
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Exaggerated cupid's bow, Cleft lip, Deep philtrum, 2-3 toe syndactyly, Cleft palate, Short philtr...	OMIM:620098
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Unilateral microphthalmos, Hepatomegaly	OMIM:615085
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Cleft palate, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropen...	OMIM:309801
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Syndactyly, Thick lower lip vermilion, Wide mouth, Long philtrum, Micro...	ORPHA:1942
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Cryptorchidism, Bilateral microphthalmos, Downturned corners o...	ORPHA:369891
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur...	ORPHA:534
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, 2-3 toe syndactyly, E...	OMIM:618280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Microphthalmia	OMIM:613155
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Micrognathia, Cryptorchidism, Hip dysplasia, Vesicoureteral reflux, Microphthalmia	ORPHA:494344
Microcephaly-Micromelia Syndrome	Absent thumb, Absent radius, Missing ribs, Short tibia, Humeroradial synostosis, Micrognathia, Cl...	OMIM:251230
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cryptorchidism, Cleft palate...	OMIM:614230
Multiple Synostoses Syndrome 1	Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Short philtrum, L...	OMIM:186500
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Cardiomegaly, Micrognathia, High, narrow palate, Abn...	ORPHA:3472
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Micrognathia, Bilateral renal hypoplasia, Preaxial poly...	OMIM:243605
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upper lip, High, narrow palat...	OMIM:607597
Leprechaunism	Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy...	ORPHA:508
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Refsum Disease	Short metacarpal, Renal insufficiency, Splenomegaly, Hammertoe, Abnormal epiphysis morphology, Mi...	ORPHA:773
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Delayed epiphyseal ossification, Hypoplasia of the uterus	ORPHA:785
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Deep philtrum, Thick lower lip vermilion, Long p...	OMIM:152950
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Absent thumb, Absen...	OMIM:227650
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Micrognathia, Renal hypoplasia, Cleft pal...	OMIM:614083
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, Cryptorchidism, High, narrow palate, Sup...	ORPHA:2108
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Trichothiodystrophy 3, Photosensitive	Natal tooth, Bilateral cryptorchidism, Carious teeth, Eclabion, Microphthalmia	OMIM:616395
Joubert Syndrome 14	Tented upper lip vermilion, Postaxial polydactyly, Renal cyst, Cleft palate, Short philtrum, Micr...	OMIM:614424
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Micrognathia, Hypoplasia of the maxilla, Narrow philtru...	OMIM:601812
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Cleft lip...	OMIM:603457
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H...	ORPHA:3109
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Prolonged prothrombin time	OMIM:214950
Fetal Alcohol Syndrome	Thin upper lip vermilion, Micrognathia, Non-midline cleft lip, Cleft palate, Microdontia, Microph...	ORPHA:1915
Solitary Median Maxillary Central Incisor	Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median m...	OMIM:147250
Steinfeld Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Absent thumb, Absen...	OMIM:600901
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Hypoplasia of the maxilla	OMIM:167730
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Abnormality of the dentition, Deep philtrum, Cleft palate, High palat...	ORPHA:251038
Warburg Micro Syndrome 4	Small scrotum, Cryptorchidism, Narrow mouth, Microphthalmia, Micropenis, Decreased testicular siz...	OMIM:615663
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Vesicoureteral reflux, Short foot, Hydronep...	ORPHA:250989
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Down-sloping shoulder...	OMIM:109400
Adams-Oliver Syndrome 2	Microphthalmia, Absent distal phalanges, Short middle phalanx of finger, Micrognathia	OMIM:614219
Pseudohypoparathyroidism Type 1A	Abnormal platelet function	ORPHA:79443
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, ...	OMIM:201180
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Hypoplastic il...	OMIM:263650
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, Cryptorchidism, Metaphyseal widening, High, ...	OMIM:234100
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Bartter Syndrome, Type 2, Antenatal	Impaired platelet aggregation	OMIM:241200
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Congenital hip dislocation, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidne...	OMIM:306955
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micrope...	OMIM:614225
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Micrognathia, Short palm, Clinodactyly of the 5th finger, Pelvic kidney, M...	ORPHA:508498
Trisomy 18	Microretrognathia, Camptodactyly of finger, Abnormality of the upper urinary tract, Cryptorchidis...	ORPHA:3380
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Micrognathia, Short...	OMIM:268400
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of...	OMIM:274000
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomegaly, Pos...	OMIM:617088
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Renal hypoplasia/aplasia, Microgn...	ORPHA:2166
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Small scrotum, Dental crowding, Orofacial cleft, Urethral atre...	ORPHA:2052
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Micrognathia, Narrow mouth, Hip disloca...	OMIM:617729
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Kapur-Toriello Syndrome	Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis, Orofacial cleft	ORPHA:2328
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly	OMIM:618805
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Spondylo-Ocular Syndrome	Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens, Long philtrum	ORPHA:85194
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Absent thumb, Absen...	OMIM:227645
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Congenital hip dislocation, Osteopathia striata, Short metata...	OMIM:305600
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Narrow mouth, Abn...	ORPHA:77301
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Absent thumb, Absen...	OMIM:227646
Relapsing Fever	Abnormal bleeding, Prolonged prothrombin time, Epistaxis, Thrombocytopenia	ORPHA:91547
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Cleft palate, H...	ORPHA:2237
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Glossoptosis, High palate, ...	OMIM:117650
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum...	ORPHA:857
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Hypospadias, Precocious puberty, 2-3 toe syndactyly, Long philtrum, Microphthalmia,...	OMIM:615877
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Ectopic kidney, Micrognathia, High, narrow palate, Renal cyst, Downt...	OMIM:122470
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Re...	OMIM:615560
X-Linked Dominant Chondrodysplasia Punctata	Neonatal epiphyseal stippling, Hip dislocation, Anterior rib punctate calcifications, Epiphyseal ...	ORPHA:35173
Fanconi Anemia	Micrognathia, Abnormal femur morphology, High palate, Abnormality of the uterus, Triphalangeal th...	ORPHA:84
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Leukocyte Adhesion Deficiency	Abnormal bleeding, Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired ne...	ORPHA:2968
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal...	ORPHA:3186
Lissencephaly 8	Microphthalmia	OMIM:617255
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy...	ORPHA:83628
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Small scrotum, Hypospadias, Tapered finger, Micrognathia, Long fingers,...	OMIM:616734
Frontorhiny	Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi...	ORPHA:391474
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Arachnodactyly, Hyp...	OMIM:201750
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Met...	ORPHA:899
Peters Plus Syndrome	Ureteral duplication, Micrognathia, Clitoral hypoplasia, Widely spaced teeth, Clinodactyly of the...	ORPHA:709
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Monosomy 9P	Hypospadias, Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Cryptorc...	ORPHA:261112
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Urethral atresia, Aplasia of the ...	OMIM:271520
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal...	OMIM:300166
Rodrigues Blindness	Microphthalmia, Tooth malposition	OMIM:268320
Oeis Complex	11 pairs of ribs, Duplicated collecting system, Congenital hip dislocation, Hydroureter, Renal ag...	OMIM:258040
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted lower...	OMIM:616920
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Skin Creases, Congenital Symmetric Circumferential, 1	Micrognathia, Long fingers, Cleft palate, High palate, Narrow mouth, Microphthalmia, Long philtrum	OMIM:156610
Liver Failure, Infantile, Transient	Prolonged prothrombin time, Decreased circulating IgG level	OMIM:613070
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Hypogonadotropic hypogona...	OMIM:206900
Hepatoportal Sclerosis	Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, Thrombocytopenia	ORPHA:64743
Infantile Liver Failure Syndrome 3	Prolonged prothrombin time	OMIM:618641
Joubert Syndrome 2	Renal insufficiency, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, High pal...	OMIM:608091
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Enlarged kidney, Cardiomegaly	OMIM:261740
Pallister-Hall Syndrome	Small scrotum, Ectopic kidney, Micropenis, Bifid uvula, Aplasia/hypoplasia of the uterus, Microre...	ORPHA:672
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Hypospadias, Micrognathia, Carious teeth, Cryptorchidism, ...	OMIM:223370
Chondrodysplasia Punctata 2, X-Linked Dominant	Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, Stippled cal...	OMIM:302960
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Cockayne Syndrome B	Mandibular prognathia, Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primar...	OMIM:133540
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Microphthalmia, Micrognathia	OMIM:617306
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Broad r...	OMIM:139210
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time	OMIM:614300
Aicardi Syndrome	Prominence of the premaxilla, Missing ribs, Precocious puberty, Cleft upper lip, Rib fusion, Smal...	ORPHA:50
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Hypospadias, Bifid uterus, Micrognathia, Preaxial hand polyda...	OMIM:236680
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Micrognathia, Hypoplasia of the ir...	OMIM:251300
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, 11 pairs of ribs, Tapered finger, Micrognathia, Cryptorchidism, Small hand, Ren...	OMIM:620005
Jacobsen Syndrome	Hypospadias, Missing ribs, Micrognathia, Cryptorchidism, Clitoral hypoplasia, Macular hypoplasia,...	OMIM:147791
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi...	ORPHA:3464
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Camptodactyly of finger, Lip pit, Tapered finger, Hypodontia, Microphthalm...	ORPHA:1236
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ...	OMIM:303600
Ulbright-Hodes Syndrome	Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnormal exte...	ORPHA:3404
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Broad ri...	OMIM:269150
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Recurrent urinary tract infections, Sinusitis, Lymph node hypoplasia	OMIM:613179
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Hypoplasia of the maxilla, Bilateral microphthalmos	ORPHA:2399
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Retrognathia, Hypoplasia of teeth	OMIM:234050
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Broad hallux, Arachnodactyly, Malar flattening, Dental malocclusion, High palate, Short finger, M...	OMIM:601552
Sialuria	Prolonged prothrombin time	ORPHA:3166
Cat Eye Syndrome	Renal agenesis, Micrognathia, Absent radius, Horseshoe kidney, Cleft palate, Vesicoureteral reflu...	OMIM:115470
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Prolonged prothrombin time	OMIM:613812
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesi...	ORPHA:141099
Charge Syndrome	Bifid scrotum, Anophthalmia, Abnormal tibia morphology, Vesicoureteral reflux, Clinodactyly of th...	ORPHA:138
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time	ORPHA:99901
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Clitoral hypertrophy, Anophthalmia, Hypospadias, Dental crowding...	OMIM:219000
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Pelvic kidney, Hydronephrosis	OMIM:613001
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Absent tonsils, Hepatomegaly	ORPHA:276
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Mycophenolate Mofetil Embryopathy	Micrognathia, Ectopic kidney, Orofacial cleft, Foot polydactyly, Short palm, Microphthalmia	ORPHA:268249
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Hypospadias, Macrodontia, Phimosis, Micrognathia...	OMIM:309500
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:464
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Transverse vaginal ...	OMIM:604292
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Congenital Muscular Dystrophy With Cerebellar Involvement	Macroglossia, Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Curry-Jones Syndrome	Duplication of thumb phalanx, Lip pit, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial...	OMIM:601707
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, High palate, Phocomelia, Hyperplasia of the maxilla, Accessory spl...	OMIM:268300
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormal metacarpal morpho...	ORPHA:974
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Micrognathia, Cryptorchidism, Deep philtrum, Hip dislo...	OMIM:613884
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short sternum, Short ribs, ...	OMIM:620076
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Hypospadias, Micrognathia, Cryptorchidism, Cleft lip, Vesicoureteral reflux, Renal cy...	OMIM:616975
22Q11.2 Deletion Syndrome	Micrognathia, Hypoplasia of the thymus, Abnormality of the uterus, Short philtrum, Vesicoureteral...	ORPHA:567
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Proteinuria, Bilateral cleft lip, Median cleft lip, Median cle...	ORPHA:2162
Frontofacionasal Dysplasia	Microphthalmia, Non-midline cleft lip, Cleft palate	ORPHA:1791
Mend Syndrome	Overlapping fingers, Broad hallux, Overlapping toe, Micrognathia, Asymmetry of the mouth, Long fi...	ORPHA:401973
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time	ORPHA:367
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, High palate, Ap...	OMIM:276820
Monosomy 13Q34	Hematochezia, Prolonged prothrombin time, Epistaxis	ORPHA:96168
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux	OMIM:120200
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Cockayne Syndrome	Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate...	ORPHA:191
Degcags Syndrome	Micrognathia, Bilateral renal hypoplasia, High palate, Syndactyly, Hepatomegaly, Hypospadias, Sho...	OMIM:619488
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time	ORPHA:79303
Classical Ehlers-Danlos Syndrome	Ecchymosis, Prolonged bleeding time, Bruising susceptibility	ORPHA:287
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia	OMIM:617466
Cockayne Syndrome Type 3	Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Ca...	ORPHA:90324
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Conical tooth, Oligodontia, Supernumerary rib...	OMIM:308300
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Hip dyspl...	ORPHA:457284
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Persistence of prim...	ORPHA:93325
Exstrophy-Epispadias Complex	Bifid scrotum, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kid...	ORPHA:322
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Atelis Syndrome 2	Micrognathia, Diastema, Thick lower lip vermilion, Downturned corners of mouth, High palate, Micr...	OMIM:620185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Long philtrum	OMIM:615145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Micrognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Buphthalmos,...	OMIM:236670
Aicardi Syndrome	Prominence of the premaxilla, Proximal placement of thumb, Missing ribs, Precocious puberty, Clef...	OMIM:304050
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Small scrotum, Female hypogon...	OMIM:607932
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Charge Syndrome	Anophthalmia, External genital hypoplasia, Micrognathia, Hand monodactyly, Micropenis, Aplasia/Hy...	OMIM:214800
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Frontonasal Dysplasia 2	Conical tooth, Bilateral cryptorchidism, Widely spaced teeth, Microphthalmia, Broad philtrum	OMIM:613451
Hellp Syndrome	Thrombocytopenia, Prolonged prothrombin time, Internal hemorrhage, Cerebral hemorrhage	ORPHA:244242
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Hypospadias, Camptodactyly of finger, Optic nerve hypop...	ORPHA:468631
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Abnormality of the dentition	ORPHA:1806
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Prolonged prothrombin time, Thrombocytopenia	OMIM:616271
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Renal agenesis, Rocker bottom foot, Bifid uterus, Micrognathia...	OMIM:256520
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Natal tooth, Aplasia of the thymus, Broad hallux, Micrognathia, Carious...	OMIM:620186
Wolf-Hirschhorn Syndrome	Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Accessory spleen, Pse...	OMIM:194190
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger...	ORPHA:69085
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Ambiguous genitalia, Vaginal neoplasm, Micrognathia, Cleft palate, ...	ORPHA:1052
S-Adenosylhomocysteine Hydrolase Deficiency	Prolonged prothrombin time	ORPHA:88618
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Epididymitis, Lymph node hypoplasia, Recurrent sinusitis, Pro...	OMIM:300755
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Triangular mouth, Retrognathia, Hypogonadism	OMIM:601675
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Abnormal dental enamel morphology, Microgna...	ORPHA:2556
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Coffin-Siris Syndrome 1	Ectopic kidney, Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Cli...	OMIM:135900
Kasabach-Merritt Syndrome	Thrombocytopenia, Prolonged prothrombin time, Petechiae, Purpura	ORPHA:2330
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia	ORPHA:2714
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5...	OMIM:609049
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Cryptorchidism, Hip dislocation,...	OMIM:309000
Shwachman-Diamond Syndrome 2	Prolonged prothrombin time, Thrombocytopenia	OMIM:617941
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time, Thrombocytopenia	OMIM:267700
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, High, narrow palate, Orofacial cleft, High palate, Prominent finge...	OMIM:309800
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Oligodontia, Microdontia...	OMIM:612289
Okamoto Syndrome	Exaggerated median tongue furrow, Tented upper lip vermilion, Urinary incontinence, Abnormally la...	ORPHA:2729
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter...	ORPHA:90793
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Renal cyst, Polycystic ovaries, Cleft palate, Microphthalmia, Congeni...	ORPHA:137675
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyl...	OMIM:107480
Celiac Disease, Susceptibility To, 1	Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgA level	OMIM:212750
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time	OMIM:311250
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time, Thrombocytopenia, Reduced natural killer cell activity	OMIM:603553
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:168558
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time	OMIM:618329
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Asplenia, Cleft hard...	ORPHA:261537
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Aplasia/Hy...	ORPHA:306542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia	OMIM:613150
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:289548
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Bilateral renal hypoplasia, Cleft maxillary alveolar ridge, Finger cl...	ORPHA:508488
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Male urethral meatus stenosis, Microphallus, Sh...	OMIM:613406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retrognathia, Optic nerve hypoplasia, Adducted thumb	OMIM:614643
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Delayed eruption of primary teeth	OMIM:300952
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Widely spaced teeth, High palate, Microdontia, Clinodactyly ...	OMIM:612474
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged prothrombin time	ORPHA:71212
Mowat-Wilson Syndrome	Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Asplenia, Cleft hard...	ORPHA:2152
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries, Hypoplasia of the uterus, Short...	ORPHA:572333
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Bila...	OMIM:610828
Trichothiodystrophy	Hypoplasia of mandible relative to maxilla, Carious teeth, Cryptorchidism, High, narrow palate, B...	ORPHA:33364
Lymphedema-Distichiasis Syndrome	Microphthalmia, Cleft palate, Cleft upper lip, Micrognathia	OMIM:153400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Mandibular prognathia, Dental crowding, Urinary incontinence, Asplenia, Cleft hard...	ORPHA:261552
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Renal agenesis, Proximal placement of thumb, Micrognathia, Cleft upper...	OMIM:113620
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Bifid uterus, Abnormal reproductive system morphology, Unilat...	ORPHA:1521
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgG level, Decreased circulatin...	OMIM:212065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,...	ORPHA:1587
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Wide mou...	OMIM:154500
Congenital Disorder Of Glycosylation, Type It	Prolonged prothrombin time	OMIM:614921
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Hypoplasia of the max...	OMIM:164210
Oculoauricular Syndrome	Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia	OMIM:612109
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Tapered finger, Short uvula, Le...	OMIM:619539
Frontofacionasal Dysplasia	Cleft upper lip, Orofacial cleft, Microphthalmia, Malar flattening, Bifid uvula, Hypoplasia of th...	OMIM:229400
Isolated Biliary Atresia	Prolonged prothrombin time	ORPHA:30391
3-Hydroxy-3-Methylglutaric Aciduria	Thrombocytosis, Prolonged prothrombin time	ORPHA:20
Pontocerebellar Hypoplasia Type 7	Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microph...	ORPHA:284339
Adams-Oliver Syndrome 1	Toe syndactyly, Cleft upper lip, Cleft palate, Microphthalmia, Imperforate hymen, Brachydactyly	OMIM:100300
Craniorachischisis	Bifid sternum	ORPHA:63260
Isolated Arrhinia	Microphthalmia, Hypoplasia of the nasal bone	ORPHA:1134
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Clitoral hypertrophy, Premature pubarche, Hypogonadotropic hypogonadism, Abno...	ORPHA:90794
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b...	OMIM:127000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Prolonged prothrombin time	ORPHA:309854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, Decreased circulating...	ORPHA:247598
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Yellow Fever	Abnormal bleeding, Excessive bleeding after a venipuncture, Hematemesis, Increased circulating Ig...	ORPHA:99829
Mowat-Wilson Syndrome	Bifid scrotum, Delayed eruption of teeth, Hypospadias, Abnormality of the kidney, Cryptorchidism,...	OMIM:235730
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Orofacial cleft, High palate, Uterine rupt...	ORPHA:60030
Abetalipoproteinemia	Abnormal bleeding, Prolonged prothrombin time	ORPHA:14
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Thick vermilion border, Long philtrum	ORPHA:2526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Micrognathia, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia,...	OMIM:253280
Marburg Hemorrhagic Fever	Abnormal bleeding, Excessive bleeding after a venipuncture, Thrombocytopenia, Subconjunctival hem...	ORPHA:99826
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti...	ORPHA:90062
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing	OMIM:259770
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ...	OMIM:157170
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, ...	OMIM:130050
Pallister-Killian Syndrome	Congenital hip dislocation, Small scrotum, Tented upper lip vermilion, Micrognathia, Renal cyst, ...	OMIM:601803
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Prolonged prothrombin time	ORPHA:404454
Norrie Disease	Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Thin vermilion border, Ut...	ORPHA:649
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Primary Sclerosing Cholangitis	Prolonged prothrombin time, Polyclonal elevation of IgM	ORPHA:171
Holoprosencephaly 1	Microphthalmia, Micropenis, Median cleft lip and palate	OMIM:236100
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Hypospadias, Premature loss of primary teeth, Abnormality of the dent...	ORPHA:286
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Bleeding with minor or no trauma, Thrombocytopenia	OMIM:619525
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780

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 Mink1

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 Mink1.

No publications found that use IMPC mice or data for Mink1.

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MGI Allele	Allele Type	Produced
Mink1^em1(IMPC)Tcp	Exon Deletion	Mice

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: Mink1 MGI:1355329

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Eye Morphology

Eye Morphology

X-ray

Electrocardiogram (ECG)

Gross Pathology and Tissue Collection

X-ray

Human diseases caused by Mink1 mutations

Histopathology

IMPC related publications

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