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Gene: Mink1 MGI:1355329

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Gene Summary

Name:
misshapen-like kinase 1 (zebrafish)
Synonyms:
Map4k6,  MINK,  Misshapen/NIKs-related kinase,  Ysk2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tooth morphology Mink1em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Mink1em1(IMPC)Tcp HOM Early adult 0.00
enlarged kidney Mink1em1(IMPC)Tcp HOM Early adult 0.00
small uterus Mink1em1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Mink1em1(IMPC)Tcp HOM Early adult 0.00
microphthalmia Mink1em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Mink1em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

97 Images

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Eye Morphology

Images Slit Lamp

27 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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X-ray

XRay Images Skull Lateral Orientation

10 Images

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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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Electrocardiogram (ECG)

Waveform Image

2 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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Athrombia, Essential
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... OMIM:209050
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... OMIM:619267
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... OMIM:615888
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... OMIM:614201
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... OMIM:273800
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... OMIM:609821
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:187950
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... OMIM:614009
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal platelet function, Thrombocytopenia ORPHA:231393
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced plat... OMIM:155100
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... OMIM:605735
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Factor V Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee... OMIM:227400
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... OMIM:617443
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... OMIM:614076
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... OMIM:139090
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Prolonged ble... OMIM:187900
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... OMIM:614072
Von Willebrand Disease, Type 1
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental ... OMIM:193400
Storage Pool Platelet Disease
Decreased mean platelet volume, Abnormal bleeding, Prolonged bleeding time OMIM:185050
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Abnor... OMIM:601399
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:153670
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Bruising susceptibility, Reduced platelet alpha granules, Petechiae, Thrombocytopenia,... OMIM:314050
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Absent platelet de... OMIM:614074
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ... ORPHA:274
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Immunodeficiency 81
Petechiae, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced... OMIM:619374
Meckel Syndrome, Type 8
Cleft upper lip, Hyperechogenic kidneys, Anophthalmia, Polydactyly, Ambiguous genitalia, Micropht... OMIM:613885
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia OMIM:233270
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Myh9-Related Disease
Giant platelets, Bruising susceptibility, Spontaneous, recurrent epistaxis, Congenital thrombocyt... ORPHA:182050
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Mmep Syndrome
Cryptorchidism, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Microphthalmia, Man... ORPHA:3434
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Cleft upper lip, Azoospermia, Micrognathia, Abnormal r... OMIM:601076
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Pet... ORPHA:903
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Impaired ... OMIM:619172
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Essential Thrombocythemia
Abnormal bleeding, Abnormality of thrombocytes, Bruising susceptibility, Abnormal platelet morpho... ORPHA:3318
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation OMIM:300835
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... OMIM:604928
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... OMIM:619902
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Cone-shaped epiphysis, Hamartoma of ton... OMIM:613091
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Microphthalmia, Isolated 4
Postaxial polydactyly, Absent testis, Microphthalmia OMIM:613094
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Cryptorchidism, Anophthalmia, Microphthalmia, Bicornuate uterus, Clef... OMIM:615524
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Bowing of the long bo... ORPHA:2501
Microphthalmia, Syndromic 8
Widely-spaced maxillary central incisors, Cleft upper lip, Cryptorchidism, Orofacial cleft, Cleft... OMIM:601349
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Hypogonadism, Narrow mouth, Microphthalmia, High palate ORPHA:2528
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopen... OMIM:603585
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate, Microphthalmia ORPHA:2432
Aa Amyloidosis
Abnormal oral mucosa morphology, Nephropathy, Chronic kidney disease, Acute kidney injury, Renal ... ORPHA:85445
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Rocker bottom foot, Cleft palate, Microphthalmia OMIM:616570
Dental Ankylosis
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Mandibular prognathia, Tooth a... ORPHA:1077
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Microphtha... OMIM:617914
Hermansky-Pudlak Syndrome 8
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... OMIM:614077
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Bruising susceptibility, Thrombocytopenia, Intracranial hemorrhage, ... ORPHA:3226
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Cat-Eye Syndrome
Abnormal rib morphology, Renal hypoplasia/aplasia, Hydronephrosis, Hip dysplasia, Microphthalmia,... ORPHA:195
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Microphthalmia/Coloboma 5
Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Camptodactyly of finger, Micrognathia, Abnormality of the upper urinary tract, Micro... ORPHA:2547
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ... ORPHA:3130
Biemond Syndrome Type 2
Preaxial polydactyly, Hypogonadism, Hypogonadotropic hypogonadism, Microphthalmia, Hypospadias ORPHA:141333
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Meckel Syndrome 12
Bifid uvula, Renal hypoplasia, Bilateral renal agenesis, Micrognathia, Vaginal atresia, Hypoplasi... OMIM:616258
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cleft palate, Cleft upper lip, Microphthalmia OMIM:120433
Endocrine-Cerebroosteodysplasia
Small scrotum, Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Cryptorchidi... OMIM:612651
Fryns Microphthalmia Syndrome
Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia, Unicornuate uterus OMIM:600776
Hermansky-Pudlak Syndrome 6
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614075
Sitosterolemia 1
Abnormal bleeding, Giant platelets, Thrombocytopenia, Impaired platelet aggregation OMIM:210250
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of finger, Abnormal ora... ORPHA:1617
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Micrognathia, Enlarged kidney, Nephroblastoma OMIM:618272
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal epiphysis morphology, Downturned corners of mouth, Micrognathia, Abnormal metaphysis mor... ORPHA:93267
46,Xy Sex Reversal 4
Hypoplasia of the uterus, Long philtrum, Gonadal dysgenesis, Micrognathia, Ureteropelvic junction... OMIM:154230
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Malar flattening, Promine... OMIM:602342
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Pierpont Syndrome
Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Malar flattening, Cryptor... ORPHA:487825
Klippel-Trénaunay Syndrome
Internal hemorrhage, Gastrointestinal hemorrhage, Prolonged bleeding time ORPHA:90308
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Intr... ORPHA:324636
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Micrognathia, Absent in utero rib ossifi... OMIM:608022
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Seckel Syndrome 2
Hypospadias, Microglossia, Micrognathia, Microdontia, Microphthalmia, Clinodactyly of the 5th fin... OMIM:606744
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Ecchymosis, Prolonged bleedi... OMIM:203300
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Hyperparathyroidism, Transient Neonatal
Thin ribs, Unilateral renal agenesis, Fractured rib, Metaphyseal spurs, Femoral bowing, Undulate ... OMIM:618188
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Ankyloglossia, Aniridia, Brachydactyly, Micropht... OMIM:602361
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Xk Aprosencephaly Syndrome
Microphthalmia, Narrow mouth, Abnormal external genitalia, Abnormal morphology of the radius ORPHA:3469
Kaposiform Lymphangiomatosis
Fractures of the long bones, Hepatosplenomegaly, Abnormal femur morphology, Splenomegaly, Abnorma... ORPHA:464329
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary, B... ORPHA:247768
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Nephrotic syndrome, Bone marrow hypocellularity, A... OMIM:617303
Pyle Disease
Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of primary teeth,... OMIM:265900
Trisomy 13
High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Ectrod... ORPHA:3378
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip, Microphthalmia OMIM:600251
Braddock-Carey Syndrome 2
Clinodactyly, Retrognathia, Microphthalmia, Wide mouth, Cleft palate, Pierre-Robin sequence OMIM:619981
Bent Bone Dysplasia Syndrome 1
Clitoral hypertrophy, Abnormally large globe, Natal tooth, Hepatosplenomegaly, Micrognathia, Ging... OMIM:614592
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Bilateral microphthalmos, Horseshoe kidney, Micrognathia... OMIM:601186
Temtamy Syndrome
Short toe, Thick lower lip vermilion, Micrognathia, Abnormal palate morphology, Brachydactyly, Mi... ORPHA:1777
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Impaired ADP-induced platelet aggregation, Absent platelet dens... OMIM:608233
Nanophthalmos
Microphthalmia ORPHA:35612
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Cleft upper lip, Bowing of the long bones, Renal cyst, Postaxial hand... OMIM:611561
Cofs Syndrome
Camptodactyly of finger, Hypogonadism, Micrognathia, Everted lower lip vermilion, Microphthalmia ORPHA:1466
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Tooth agenesis, Hypogonadotropic hypogonadism, Microphthalmia, High palate, Cleft palate ORPHA:1135
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Moebius Syndrome
Bifid uvula, Abnormal pelvic girdle bone morphology, Abnormality of the dentition, Clinodactyly, ... OMIM:157900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Carious teeth, Microretrognathia, Tooth agenesis, Small epiphyses, Genu va... OMIM:618363
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Microphthalmia, High palate, 2-5 toe sy... OMIM:206920
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Nephroblastoma, Abnormality of the lymphatic system, Ovarian se... ORPHA:276280
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Matthew-Wood Syndrome
Renal hypoplasia, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral reflux, Cryptorchid... ORPHA:2470
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Decreased testicular size, Vesicoureteral reflux, Cr... ORPHA:85284
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypoplastic iliac wi... ORPHA:163966
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Microphthalmia, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... ORPHA:3320
Satoyoshi Syndrome
Hypoplasia of the uterus, Genu valgum, Osteolytic defects of the phalanges of the hand, Brachydac... OMIM:600705
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Hypoplasia... OMIM:609441
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micrognathia, Cryptorchidism, Su... ORPHA:2189
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Tapered toe, Renal insufficiency, Enlarged kidney, Cardiomegaly, Hydronephrosis, L... OMIM:608836
Nanophthalmos 4
Microphthalmia OMIM:615972
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Cryptorchidism, Microphthalmia, Flat acetabular roof, Cleft lip, Hamart... OMIM:616300
Joubert Syndrome 22
Renal hypoplasia, Postaxial foot polydactyly, 2-3 toe syndactyly, Microphthalmia, Postaxial hand ... OMIM:615665
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short distal phalanx of finger, Hypoplasia of the uterus, Clinodactyly, Delayed eruption of teeth... OMIM:615866
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Progressive alveolar ridge hypertropy,... OMIM:252500
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Hypoplasia of the maxilla, Micro... OMIM:301108
H Syndrome
Cleft upper lip, Hypogonadism, Decreased testicular size, Hepatosplenomegaly, Gingival overgrowth... ORPHA:168569
Warburg Micro Syndrome 1
Overlapping toe, Micrognathia, Narrow mouth, Cryptorchidism, External genital hypoplasia, Microph... OMIM:600118
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Seckel Syndrome 7
Hip dysplasia, Clinodactyly of the 5th finger, Hypoplasia of the uterus, Short middle phalanx of ... OMIM:614851
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma... OMIM:257850
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Abnormal bleeding, Impaire... ORPHA:79329
Renal-Hepatic-Pancreatic Dysplasia 2
Femoral bowing, Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Fanconi Anemia, Complementation Group S
Dental malocclusion, Clinodactyly, Thick upper lip vermilion, Macrodontia, Ovarian carcinoma, Mic... OMIM:617883
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Short thumb, Delayed eruption of teeth, Long phi... ORPHA:2712
Developmental Delay With Variable Neurologic And Brain Abnormalities
Widely spaced teeth, Micrognathia, Microdontia, Down-sloping shoulders, Microphthalmia, Camptodac... OMIM:619694
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Short thumb, Microphthalmia OMIM:609054
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Anophthalmia, Cryptorchidism, Microphthalmia, Cleft palate OMIM:164180
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Hydronephrosis, Hand polydactyly, Urethral atresia, Absent radius, Proximal placem... OMIM:314390
Wiskott-Aldrich Syndrome
Gingival bleeding, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hematomas, Recur... ORPHA:906
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly, P... OMIM:618727
Popliteal Pterygium Syndrome
Bifid uvula, Small scrotum, Fibrous syngnathia, Cleft upper lip, Bifid scrotum, Cutaneous finger ... OMIM:119500
Frontonasal Dysplasia 1
Hypoplasia of the maxilla, Radial deviation of finger, Clinodactyly, Median cleft palate, Microph... OMIM:136760
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Sandal gap, Retrognathia, Micrognathia, Joint contracture of the 5th finger, Jo... OMIM:618914
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Micrognathia, Narrow mouth... ORPHA:3301
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Congenital Fibrinogen Deficiency
Gingival bleeding, Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertro... ORPHA:335
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Elevated urinary dihydrothymine level, Microphthalmia OMIM:274270
Ring Chromosome 10 Syndrome
Sandal gap, Long philtrum, Micrognathia, Renal hypoplasia/aplasia, Microphthalmia, Thin vermilion... ORPHA:1438
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Long ... OMIM:618494
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Micrognathia, Aplasia of the uterus, Anteriorly displaced ure... OMIM:266810
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia OMIM:226650
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Craniometadiaphyseal Dysplasia
Carious teeth, Natal tooth, Absent paranasal sinuses, Flared metaphysis, Broad long bones, Dental... OMIM:269300
Nance-Horan Syndrome
Abnormality of the dentition, Microphthalmia, Supernumerary tooth, Mandibular prognathia, Short m... ORPHA:627
Bartsocas-Papas Syndrome 2
Small hand, Micrognathia, Absent distal phalanges, Bilateral cleft palate, Bilateral cleft lip, 2... OMIM:619339
Amed Syndrome, Digenic
Bone marrow hypocellularity, Hypoplasia of the uterus, Long thumb OMIM:619151
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Malar prominence, Micrognathia, Hypogonadotropic hypogonadism, Finger joint contracture, Micropht... ORPHA:48431
Normosmic Congenital Hypogonadotropic Hypogonadism
Abnormality of the dentition, Male hypogonadism, Non-obstructive azoospermia, Decreased testicula... ORPHA:432
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Proteinuria, Membranoproliferative glomerulonephritis, Macrosc... ORPHA:251004
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Camptodactyly of finger, Micrognathia, Microphthalmia, Micropenis, Rocker bottom foot OMIM:610756
Alg9-Cdg
Bifid uvula, Ureteral hypoplasia, Microretrognathia, Hypoplasia of the bladder, Flared metaphysis... ORPHA:79328
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic iliac wing, 11 pa... OMIM:300863
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Bifid distal phalanx of toe, Unilateral renal agenesis, Long philtrum, Gonadal ... OMIM:618419
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... OMIM:169550
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Ankyloglossia, Genu valgum, Cryptorchidism, Everted lower lip vermilio... OMIM:615873
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Lymphadenopathy, Microphthalmia ORPHA:858
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Absent thumb, Radial dysplasia, Agenesis of permanent teeth, Microph... OMIM:617244
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Mulberry molar, Microphthalmia, Short phalanx of finge... OMIM:302350
Cerebrooculofacioskeletal Syndrome 1
Carious teeth, Delayed eruption of teeth, Long philtrum, Micrognathia, Thin vermilion border, Cry... OMIM:214150
Microphthalmia, Lenz Type
Abnormality of the dentition, Hydroureter, Finger syndactyly, Delayed eruption of teeth, Camptoda... ORPHA:568
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microphthalmia OMIM:300915
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Polydactyly, Smooth philtrum, Microphthalmia, Syndactyly OMIM:602501
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Micrognathia, Microphthalmia OMIM:616171
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Downturned corners of mouth, Long philtrum, Oligosacchariduria, Micrognathia, Hig... ORPHA:163649
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Post... ORPHA:1106
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Multiple bladder diverticula, Widely spaced teeth, Cryptorchidism, Microdontia, Pr... ORPHA:2728
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Hematuria, Prostatitis, Tubulointerstitial nep... ORPHA:449395
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Cousin Syndrome
Hypoplastic scapulae, Hypoplastic iliac wing, Dislocation of the femoral head, Fibular aplasia, M... OMIM:260660
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Purpura, Prolonged bleeding time ORPHA:809
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Joubert Syndrome 37
Decreased testicular size, Cryptorchidism, Postaxial polydactyly, Hydronephrosis, Micropenis, Mic... OMIM:619185
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Medullary nephrocalcinosis, Genu valgum, Hyperphosphaturia, Hypoplasia of teeth, G... OMIM:613312
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Microglossia, Bilateral microphthalmos, Camptodactyly o... ORPHA:2839
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Gingival bleeding, Epistaxis, Decreased specific anti-polysacchar... OMIM:301000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry... OMIM:609945
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Abnormal metacarpal mo... ORPHA:1452
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Microphthalmia, Non-midline cleft of the upper lip,... ORPHA:2117
Acquired Purpura Fulminans
Macular purpura, Internal hemorrhage, Thrombocytopenia, Prolonged prothrombin time, Intracranial ... ORPHA:49566
Monosomy 18P
Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Hypodontia, Brachyda... ORPHA:1598
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Cryptorchidism, Microphthalmia, Ectopic ... OMIM:146510
Renal-Hepatic-Pancreatic Dysplasia 1
Polysplenia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atresia,... OMIM:208540
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Abnormality of the spleen, Anophthalmia, Perineal fistula, Renal hy... ORPHA:2538
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Baraitser-Winter Syndrome 2
Retrognathia, Long philtrum, Thin upper lip vermilion, Orofacial cleft, Microphthalmia, Wide mouth OMIM:614583
Temtamy Syndrome
Dental crowding, Long philtrum, Micrognathia, Brachydactyly, Microphthalmia, Short 2nd toe, Hypop... OMIM:218340
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria, Microphthalmia, Hepatomegaly, High palate OMIM:619053
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia, Bilateral cleft palate ORPHA:1473
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Cryptorchidism, 2-3 finger syndactyly, Broad toe, ... OMIM:312870
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Lymph node hypoplasia, Splenomegaly, Oral ulcer, Aplasia of the thymus, Generaliz... OMIM:602450
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Oral ulce... OMIM:232220
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Enlarged kidney ORPHA:79128
Perrault Syndrome 4
Bicornuate uterus, Hypoplasia of the uterus, Hypoplasia of the ovary, Cleft palate OMIM:615300
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Cryptorchidism, Microphthalmia, H... OMIM:619148
Mosaic Trisomy 9
Hypoplasia of penis, Hypoplastic female external genitalia, Finger clinodactyly, Camptodactyly of... ORPHA:99776
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo... ORPHA:404440
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Renal cortical cysts,... OMIM:130650
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia ORPHA:363741
3P25.3 Microdeletion Syndrome
High, narrow palate, Mandibular prognathia, Broad thumb, Broad hallux, Downturned corners of mout... ORPHA:435638
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Recu... OMIM:613680
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary aminoisobutyric acid, Elevated ... OMIM:614105
Marden-Walker Syndrome
High, narrow palate, Renal hypoplasia, Long philtrum, Micrognathia, Narrow mouth, Cryptorchidism,... OMIM:248700
Meckel Syndrome, Type 2
Polydactyly, Bowing of the long bones, Renal cyst, Postaxial hand polydactyly, Microphthalmia, Cl... OMIM:603194
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Martsolf Syndrome 1
Tooth malposition, Micrognathia, Cryptorchidism, Broad fingertip, Microphthalmia, Finger joint hy... OMIM:212720
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Carious teeth, Periodontitis, Stage 5 chronic kidney disease, Oral ulcer, Nephr... ORPHA:79259
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip, Microphthalmia OMIM:614402
Mosaic Trisomy 1
Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, Microphthalmia, ... ORPHA:1692
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velo... ORPHA:363444
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Cleft soft palate, Micrognathia, Smooth philtrum, Brachydactyly, Microphthalmia OMIM:614526
Meacham Syndrome
Accessory spleen, Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bic... OMIM:608978
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Uterus didelphy... OMIM:146255
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ovarian cyst, High palate, Short foot... OMIM:614527
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Ankyloglossia, Unilateral microphthalmos, Malar flattening, Bilateral cleft palate, Thin upper li... OMIM:618874
Baraitser-Winter Syndrome 1
Retrognathia, Long philtrum, Cleft upper lip, Cryptorchidism, Thin upper lip vermilion, Orofacial... OMIM:243310
Meckel Syndrome 14
Postaxial foot polydactyly, Microretrognathia, Retrognathia, Micrognathia, Bowing of the long bon... OMIM:619879
Acrocephalopolydactylous Dysplasia
Polysplenia, Postaxial hand polydactyly, Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Nephrocalcinosis, Enuresis, Gingival overgrowth, Renal insuffi... OMIM:204690
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Cryptorchidism,... OMIM:619135
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Yellow-brown discoloration of the teeth, Delayed er... ORPHA:1031
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Microphthalmia ORPHA:324416
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal femoral torsion, Tibial torsion, Long hallux, Bifid ureter... ORPHA:500095
Garg-Mishra Progeroid Syndrome
Thin ribs, Dental crowding, Slender long bone, Slender metacarpals, Micrognathia, Microphthalmia,... OMIM:620601
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Bilateral cryptorchidism, Cardiomegaly, Smooth philtrum, Microphthalmia OMIM:618652
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Cohen Syndrome
Finger syndactyly, Genu valgum, Micrognathia, Open mouth, Cryptorchidism, Arachnodactyly, Microph... ORPHA:193
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly, Cleft palate, Microphthalmia ORPHA:261272
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short thumb, Short 1st metacarpal, H... OMIM:609053
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Splenomegaly, Microphthalmia, Hepatomegaly, Abnormal metaphysis m... ORPHA:290
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Small hand, Long philtrum, Micrognathia, Cryptorchidism, Thin upper lip vermilion, M... OMIM:241410
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A... ORPHA:2919
Pycnodysostosis
Aplastic clavicle, Narrow palate, Carious teeth, Persistence of primary teeth, Micrognathia, Dela... OMIM:265800
Stevenson-Carey Syndrome
Downturned corners of mouth, Recurrent urinary tract infections, Narrow mouth, Microphthalmia, Hi... OMIM:611961
8Q21.11 Microdeletion Syndrome
Abnormality of the dentition, Finger syndactyly, Downturned corners of mouth, Camptodactyly of fi... ORPHA:284160
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, Cleft upper lip, 11 pairs of ribs, ... OMIM:264480
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Cryptorchidism, Anophthalmia, Microphthalmia, High... ORPHA:139471
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Ogden Syndrome
Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, Cryptorchidism, High palate... OMIM:300855
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Short tibia, Uterus didelphys, Preaxial polydactyly, Hamartoma of tongue,... OMIM:617925
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Abnormality of neutrophil physiology, Abnormal bleeding, Bruising s... ORPHA:167
Fryns Syndrome
Short distal phalanx of finger, Multicystic kidney dysplasia, Hypospadias, Long philtrum, Microgn... ORPHA:2059
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Open bite, Renal hypoplasia/apla... ORPHA:2092
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Abnormal epiphysis morphology, Metaphyseal spurs, Flared metap... ORPHA:85167
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Retrognathia, Furrowed tongue, Tented upper lip vermilion, 2-3 toe syndacty... OMIM:616449
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Nephrotic syndrome, Heparan sulfate excretion in urine, Hepatospleno... ORPHA:505248
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cryptorchidism, Microphthalmia OMIM:601794
Teebi-Shaltout Syndrome
High, narrow palate, Caudal appendage, Ureteral stenosis, Horseshoe kidney, Prominent palatine ri... OMIM:272950
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Ohdo Syndrome, X-Linked
Small scrotum, Short thumb, Clinodactyly, Long philtrum, Widely spaced teeth, Overlapping toe, Mi... OMIM:300895
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal cupping, Dental malocclusion, Flared metaphysis, Short finger, Femoral bowing, Tibial... OMIM:608940
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Optic nerve hypoplasia, Narrow mouth, Microphthalmia OMIM:614833
Proteus Syndrome
Rib exostoses, Carious teeth, Finger syndactyly, Open mouth, Abnormal metacarpal morphology, Abno... ORPHA:744
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Long philtrum, Microphthalmia OMIM:300887
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Abnormality of the dentition, Conical tooth, Small scrotum, Hypogonadism, Cryptorchidism, Microph... ORPHA:228390
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Clinodactyly, Male urethral meatus stenosis, Overlapping toe, Overlapping fing... ORPHA:464738
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Cryptorchidism, Abnor... ORPHA:251014
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Cleft mandible... ORPHA:364577
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Cryptorchidism, Thi... OMIM:612530
Sandestig-Stefanova Syndrome
Clinodactyly, Retrognathia, Orofacial cleft, Microphthalmia, Camptodactyly, High palate, Rocker b... OMIM:618804
Cerebrooculofacioskeletal Syndrome 4
Slender long bone, Flared metaphysis, Camptodactyly of finger, Bilateral microphthalmos, Steep ac... OMIM:610758
Micro Syndrome
Abnormal localization of kidney, Micrognathia, Cryptorchidism, Hydronephrosis, High palate, Micro... ORPHA:2510
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Absent radius, Microphthalmia, Syndactyly, Absent thumb, Renal agene... OMIM:607323
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Radial club hand, Renal hyp... ORPHA:959
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Treacher-Collins Syndrome
Small scrotum, Open bite, Micrognathia, Narrow mouth, Cryptorchidism, Microphthalmia, High palate... ORPHA:861
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Hypogonadism, External ge... ORPHA:2250
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Cryptorchidism, Microphthalmia, Hypoplasia of penis, Hypospadias ORPHA:77298
Kapur-Toriello Syndrome
Abnormality of the urinary system, Short thumb, Cleft upper lip, Camptodactyly of finger, Overlap... OMIM:244300
Roberts Syndrome
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplas... ORPHA:3103
3Q29 Microdeletion Syndrome
Abnormality of the dentition, Dental crowding, Horseshoe kidney, Short philtrum, Orofacial cleft,... ORPHA:65286
Warburg Micro Syndrome 3
Small scrotum, Downturned corners of mouth, Decreased testicular size, Micrognathia, Microphthalm... OMIM:614222
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Rena... OMIM:276700
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Long philtrum, Micrognathia, Abnormal scrotum morphology, Cryptorchidism, Micropht... ORPHA:2505
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Microphthalmia, Syndromic 5
Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Cleft palate, Optic nerve hypoplasia OMIM:610125
Acquired Von Willebrand Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Subcutaneous hemorrhage, Intracr... ORPHA:99147
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uterus, Penos... OMIM:618280
Orofaciodigital Syndrome Iii
Bifid uvula, Postaxial foot polydactyly, Microdontia, Short sternum, Postaxial hand polydactyly, ... OMIM:258850
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Wide mouth, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Neph... ORPHA:116
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Clinodactyly, Downturned corners of mouth, Widely spaced teeth, Bilateral ... ORPHA:369891
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Vesicoure... OMIM:603467
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Vacterl With Hydrocephalus
Retrognathia, Renal agenesis, Micrognathia, Cryptorchidism, Anophthalmia, Renal hypoplasia/aplasi... ORPHA:3412
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cleft lip, Microretrognathia, Downturned corners of mouth, Long philtrum, Overlapping toe, Deep p... OMIM:618571
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Clinodactyly, Selective tooth agenesis, Cleft upper lip, 3-... OMIM:164200
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Micrognathia, Synostosis of carpal bones, Microdontia ORPHA:3191
Meckel Syndrome, Type 4
Bowing of the long bones, Renal cyst, Microphthalmia, Postaxial hand polydactyly, Cleft palate OMIM:611134
Fryns Syndrome
Thin ribs, Cryptorchidism, Microphthalmia, Hypospadias, Prominent fingertip pads, Renal agenesis,... OMIM:229850
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, Postaxial foot polydactyly, Aplasia/Hypoplasia of... ORPHA:564
Developmental And Epileptic Encephalopathy 1
Micropenis, Microphthalmia OMIM:308350
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Cleft lip, Prominent fingertip pads, Retrognathia, Joint contracture of the 5th finger, Exaggerat... OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Microphthalmia OMIM:613155
Peters-Plus Syndrome
Square pelvis bone, Micrognathia, Short lingual frenulum, Cryptorchidism, Hypoplastic labia major... OMIM:261540
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Micrognath... ORPHA:731
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Clinodactyly, Abnormality of the ureter, Micrognathia, C... OMIM:249000
Myoclonic-Astatic Epilepsy
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Microphthalmia, Broad philtru... ORPHA:1942
Rere-Related Neurodevelopmental Syndrome
Micrognathia, Vesicoureteral reflux, Cryptorchidism, Hip dysplasia, Microphthalmia, Hypospadias ORPHA:494344
Chromosome 8Q21.11 Deletion Syndrome
Downturned corners of mouth, Micrognathia, Cryptorchidism, Exaggerated cupid's bow, Short philtru... OMIM:614230
Tetraamelia Syndrome 1
Absent external genitalia, Renal agenesis, Cleft upper lip, Micrognathia, Hypoplastic pelvis, Ure... OMIM:273395
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Genu valgum, Micrognathia, Open mouth, Cryptorchidism, H... ORPHA:534
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Microphthalmia, Micropenis, Hypoplasia of the uterus, H... OMIM:309801
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Oligodactyly, Micrognathia, Narrow mouth, Humeroradial synostosis, Mis... OMIM:251230
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p... ORPHA:1553
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge... ORPHA:3472
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Unilateral microphthalmos, Splenomegaly OMIM:615085
Multiple Synostoses Syndrome 1
Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha... OMIM:186500
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Renal agenesis, Horseshoe kidney, Microphthalmia, Cryptorchidism, Abno... OMIM:227650
Blepharophimosis, Ptosis, And Epicanthus Inversus
High palate, Hypoplasia of the uterus, Microphthalmia OMIM:110100
Stromme Syndrome
Accessory spleen, Bilateral renal hypoplasia, Preaxial polydactyly, Micrognathia, Hydronephrosis,... OMIM:243605
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Broad proximal phalanges of the hand, Cleft upper lip, Bilateral microphthal... OMIM:607597
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Cleft lip, Dental malocclusion, Cryptorchidism, Hypogonadotropic hypogonadism, Hypop... OMIM:603457
Dysosteosclerosis
Short diaphyses, Broad femoral neck, Natal tooth, Flared metaphysis, Absent paranasal sinuses, De... OMIM:224300
Refsum Disease
Abnormal epiphysis morphology, Renal insufficiency, Splenomegaly, Microphthalmia, Short metacarpa... ORPHA:773
Trichothiodystrophy 3, Photosensitive
Carious teeth, Natal tooth, Bilateral cryptorchidism, Microphthalmia, Eclabion OMIM:616395
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... OMIM:202010
Steinfeld Syndrome
Bifid uvula, Unilateral renal dysplasia, Median cleft palate, Missing ribs, Aplasia/Hypoplasia of... OMIM:184705
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Leprechaunism
Nephrocalcinosis, Long penis, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hype... ORPHA:508
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
Premature Aging Syndrome, Penttinen Type
Thin ribs, Short distal phalanx of finger, Hypoplasia of the maxilla, Slender long bone, Delayed ... OMIM:601812
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Renal agenesis, Horseshoe kidney, Microphthalmia, Cryptorchidism, Abse... OMIM:600901
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Deep philtrum, Microphthalmia... OMIM:152950
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Long philtrum, Ankyloglossia, Clinodactyly of the 5th finger, Vesico... ORPHA:250989
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Absent thumb, Micrognat... OMIM:614083
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Rib exostoses, Small hand, Natal tooth, Microg... ORPHA:2108
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Warburg Micro Syndrome 4
Small scrotum, Long philtrum, Decreased testicular size, Narrow mouth, Cryptorchidism, Microphtha... OMIM:615663
Joubert Syndrome 14
Open mouth, Malar flattening, Tented upper lip vermilion, Postaxial polydactyly, Renal cyst, Micr... OMIM:614424
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microphthalmia OMIM:167730
Fetal Alcohol Syndrome
Micrognathia, Microdontia, Thin upper lip vermilion, Smooth philtrum, Microphthalmia, Non-midline... ORPHA:1915
3Q29 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Aniridia, Camptodactyly of toe, Deep ph... ORPHA:251038
Solitary Median Maxillary Central Incisor
Cleft upper lip, Anophthalmia, Prominent median palatal raphe, Solitary median maxillary central ... OMIM:147250
Hallermann-Streiff Syndrome
Thin ribs, High, narrow palate, Narrow palate, Natal tooth, Slender long bone, Dental malocclusio... OMIM:234100
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... ORPHA:90796
Acrofrontofacionasal Dysostosis 1
Short distal phalanx of finger, Mandibular prognathia, Broad thumb, Cleft upper lip, Acetabular d... OMIM:201180
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Cleft upper lip, Ovarian carcinoma, Short ribs, Supernumerary ... OMIM:109400
Adams-Oliver Syndrome 2
Micrognathia, Short middle phalanx of finger, Absent distal phalanges, Microphthalmia OMIM:614219
Warburg Micro Syndrome 2
Small scrotum, Overlapping toe, Cryptorchidism, Clinodactyly of the 5th toe, Hypoplastic labia ma... OMIM:614225
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Hypoplastic labia majora, Absent radi... OMIM:263650
Noonan Syndrome
Abnormal bleeding, Abnormal platelet function, Bruising susceptibility ORPHA:648
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Overlapping toe, Micrognathia, Broad phalanx, Microphthalmia, Hypospadias, Hip dislo... ORPHA:508498
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Renal agenesis, Polysplenia, Horseshoe kidney, Cardiomegaly, Short lo... OMIM:306955
Trisomy 18
Microretrognathia, Deviation of finger, Camptodactyly of finger, Abnormal morphology of female in... ORPHA:3380
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small hand, Mandibular prognathia, Short thumb, Delayed eruption of t... OMIM:268400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Everted lower lip vermilion, Micr... OMIM:608670
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u... OMIM:158330
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Nephroblastoma, Hypoplasi... OMIM:610832
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal localization of kidney, Hypoplasia of the premaxilla, Micrognathia, Narrow mouth, Crypto... ORPHA:2166
Galloway-Mowat Syndrome 3
Micrognathia, Narrow mouth, Stage 5 chronic kidney disease, Arachnodactyly, Proteinuria, Diffuse ... OMIM:617729
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Hydrometrocolpos, Horseshoe kidney, Vaginal atresia, Horizontal ribs, Sple... OMIM:617088
Estrogen Resistance
Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... OMIM:274000
Relapsing Fever
Epistaxis, Thrombocytopenia, Abnormal bleeding, Prolonged prothrombin time ORPHA:91547
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Absent thumb, Short thumb, Renal agenesis, Horseshoe kidney, Microph... OMIM:227645
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Absent thumb, Short thumb, Renal agenesis, Preaxial hand polydactyly... OMIM:227646
Frontonasal Dysplasia 3
Cleft palate, Microphthalmia OMIM:613456
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Bifid uterus, Cleft palate ORPHA:2736
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Microphthal... ORPHA:1352
Spondylo-Ocular Syndrome
Thin vermilion border, Aplasia/Hypoplasia of the lens, Long philtrum, Microphthalmia ORPHA:85194
Kapur-Toriello Syndrome
Orofacial cleft, Hypoplastic labia majora, Hypoplasia of penis, Microphthalmia ORPHA:2328
Monosomy 9Q22.3
Delayed eruption of teeth, Long philtrum, Narrow mouth, Nephroblastoma, Polydactyly, Orofacial cl... ORPHA:77301
Focal Dermal Hypoplasia
Toe syndactyly, Cryptorchidism, Anophthalmia, Microphthalmia, Foot polydactyly, Short metacarpal,... OMIM:305600
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microphthalmia OMIM:618805
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Carious teeth, Dental malocclusion, Clinodactyly, Microretrognathia, Down-sloping shoulders, Rena... OMIM:615560
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal insufficiency, Vesicoureteral ... ORPHA:2237
Cornelia De Lange Syndrome 1
Micrognathia, Cryptorchidism, Hypoplastic labia majora, High palate, Dislocated radial head, Hypo... OMIM:122470
Cerebrocostomandibular Syndrome
Carious teeth, Cleft soft palate, Micrognathia, Short hard palate, High palate, Ectopic kidney, P... OMIM:117650
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... ORPHA:84
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Long philtrum, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger s... OMIM:615877
X-Linked Dominant Chondrodysplasia Punctata
Epiphyseal stippling, Anterior rib punctate calcifications, Hydronephrosis, Neonatal epiphyseal s... ORPHA:35173
Townes-Brocks Syndrome
Broad thumb, Toe syndactyly, Abnormal vagina morphology, Cryptorchidism, Abnormality of the kidne... ORPHA:857
Lumbar Syndrome
Renal agenesis, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hypoplas... ORPHA:83628
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Small scrotum, Carious teeth, Ureterocele, Micrognathia, Narrow mouth, Cryptorchidis... OMIM:616734
Peters Plus Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Cryptorchidism, Renal hypoplasia/apla... ORPHA:709
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Walker-Warburg Syndrome
Bifid uvula, Metatarsus valgus, Submucous cleft hard palate, Cryptorchidism, Anophthalmia, Microp... ORPHA:899
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Foot polydactyly, Renal hypoplasia/aplasia, Missing ribs, Aplasia/Hypoplasia of the thumb, Median... ORPHA:3186
Microphthalmia, Syndromic 2
Cryptorchidism, Anophthalmia, Contracture of the proximal interphalangeal joint of the 2nd toe, R... OMIM:300166
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Carpal synostosis, Humeroradial synostosis, Cryptorchidism, ... OMIM:201750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Phocomelia, Schinzel Type
Finger aplasia, High, narrow palate, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving th... ORPHA:2879
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Lissencephaly 8
Microphthalmia OMIM:617255
Fraser Syndrome
Small scrotum, Toe syndactyly, Finger syndactyly, Abnormal vagina morphology, Female pseudohermap... ORPHA:2052
Oeis Complex
Congenital hip dislocation, Duplicated collecting system, Hydroureter, Renal agenesis, Ambiguous ... OMIM:258040
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosine level, Lymp... OMIM:613179
Frontorhiny
Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger, Brachydactyly, Microphth... ORPHA:391474
Monosomy 9P
Abnormality of the dentition, Hypospadias, Long philtrum, Abnormality of the tarsal bones, Microg... ORPHA:261112
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Abnormal bleeding, Impaired pl... ORPHA:2968
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Absent external genitalia, Aplasia of the vagina, Short ribs, Rib fusion, Missing ribs... OMIM:271520
Woodhouse-Sakati Syndrome
Decreased testicular size, Anodontia, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of th... OMIM:241080
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Missing ribs, Supernumerary ribs, Rib fusion, ... OMIM:206900
Rodrigues Blindness
Tooth malposition, Microphthalmia OMIM:268320
Heart And Brain Malformation Syndrome
High, narrow palate, Cleft lip, Thick lower lip vermilion, Camptodactyly of finger, Everted lower... OMIM:616920
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Prolonged prothrombin time OMIM:613070
Skin Creases, Congenital Symmetric Circumferential, 1
Long philtrum, Micrognathia, Narrow mouth, Long fingers, Microphthalmia, High palate, Cleft palate OMIM:156610
Joubert Syndrome 2
Postaxial foot polydactyly, Nephronophthisis, Renal insufficiency, Renal cyst, Postaxial hand pol... OMIM:608091
Cockayne Syndrome B
Carious teeth, Square pelvis bone, Dental malocclusion, Hypoplasia of the iris, Hypoplastic iliac... OMIM:133540
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Thrombocytopenia, Abnormal bleeding, Prolonged prothrombin time ORPHA:64743
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Macroglossia, Enlarged kidney OMIM:261740
Myhre Syndrome
Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Narrow mouth, Cryptorchidism, Microphthalm... OMIM:139210
Dubowitz Syndrome
Carious teeth, Velopharyngeal insufficiency, Delayed eruption of teeth, Hypoplasia of the iris, A... OMIM:223370
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Small hand, Renal hypoplasia, 11 pairs of ribs, Micrognathia, Thick vermilion b... OMIM:620005
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Pallister-Hall Syndrome
Small scrotum, Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Hydrometrocolpos, Polydac... ORPHA:672
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Micrognathia, Microphthalmia OMIM:617306
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Stippled calcification in carpal bones, Epiphyseal stippl... OMIM:302960
Holoprosencephaly 9
Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Downturned corners ... OMIM:610829
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Aicardi Syndrome
Precocious puberty, Small hand, Cleft upper lip, Prominence of the premaxilla, Missing ribs, Supe... ORPHA:50
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Streak ovary, Anodontia, Abnormal spermatogenesis, Micro... ORPHA:3464
Jacobsen Syndrome
Micrognathia, Cryptorchidism, Missing ribs, Macular hypoplasia, Brachydactyly, Labial hypoplasia,... OMIM:147791
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Upper limb undergrowth, Preaxial hand polydactyly, ... OMIM:236680
Ulbright-Hodes Syndrome
Thin ribs, Clitoral hypertrophy, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synost... ORPHA:3404
Sialuria
Prolonged prothrombin time ORPHA:3166
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Slender finger, Hypoplasia of the iris, Micrognathia, Renal i... OMIM:251300
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Broad thumb, Lip pit, Camptodactyly of finger, Abnormal palate morphology, Hypodontia, Microphtha... ORPHA:1236
Coffin-Lowry Syndrome
Narrow palate, Bifid sternum, Dental malocclusion, Thick lower lip vermilion, Widely spaced teeth... OMIM:303600
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Aplasia/Hypoplasia of the pubic bone, Hypoplastic labia majora, Splenopancreatic f... OMIM:269150
Traboulsi Syndrome
Bifid uvula, Homocystinuria, Dental malocclusion, Broad hallux, Retrognathia, Short finger, Malar... OMIM:601552
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Cryptorchidism, Hydronephrosis, Microphthalmia, Pelvic kidney OMIM:613001
Nasopalpebral Lipoma-Coloboma Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Bilateral microphthalmos, Microphthalmia ORPHA:2399
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia, Microphthalmia OMIM:234050
Cat Eye Syndrome
Renal agenesis, Horseshoe kidney, Micrognathia, Vesicoureteral reflux, Hydronephrosis, Absent rad... OMIM:115470
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Prolonged prothrombin time OMIM:613812
Proboscis Lateralis
Abnormality of the maxillary sinus, Unilateral renal agenesis, Abnormal facial skeleton morpholog... ORPHA:141099
Renpenning Syndrome 1
Hypospadias, Renal hypoplasia, Synostosis of the proximal phalanx of the thumb with the 1st metac... OMIM:309500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Absent tonsils, Lymph node hypoplasia ORPHA:276
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Toe syndactyly, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated c... OMIM:604292
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Abnor... ORPHA:464
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Mend Syndrome
Asymmetry of the mouth, Broad hallux, Overlapping toe, Overlapping fingers, Micrognathia, Cryptor... ORPHA:401973
Chromosome 13Q14 Deletion Syndrome
Overlapping toe, Micrognathia, Cryptorchidism, Thin upper lip vermilion, Deep philtrum, Everted l... OMIM:613884
Charge Syndrome
Abnormal tibia morphology, Narrow mouth, Cryptorchidism, Anophthalmia, Microphthalmia, Abnormal m... ORPHA:138
Floating-Harbor Syndrome
Carious teeth, Dilatation of the renal pelvis, Clinodactyly, Cryptorchidism, Broad fingertip, Dis... ORPHA:2044
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Mycophenolate Mofetil Embryopathy
Micrognathia, Orofacial cleft, Microphthalmia, Foot polydactyly, Ectopic kidney, Short palm ORPHA:268249
Curry-Jones Syndrome
Broad thumb, Lip pit, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, D... OMIM:601707
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cleft lip, Furrowed tongue, Micrognathia, Vesicoureteral reflux, Cryptorchidism, Smooth philtrum,... OMIM:616975
Fraser Syndrome 1
Renal hypoplasia, Clitoral hypertrophy, Dental malocclusion, Dental crowding, Cleft upper lip, Bi... OMIM:219000
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Anophthalmia, Microphthalmia OMIM:248450
Oculopalatocerebral Syndrome
Cleft palate, Microphthalmia OMIM:257910
Cockayne Syndrome
Unilateral renal agenesis, Renal hypoplasia, Carious teeth, Abnormal epiphysis morphology, Dental... ORPHA:191
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Arachnodactyly, Microphthalmia, Foot p... ORPHA:567
Adams-Oliver Syndrome
Short distal phalanx of finger, Finger syndactyly, Absent hand, Abnormal metacarpal morphology, B... ORPHA:974
Holoprosencephaly
Abnormality of the urinary system, Hypoplasia of the zygomatic bone, Tooth agenesis, Abnormality ... ORPHA:2162
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Enlarged labia mino... OMIM:268300
Degcags Syndrome
Chronic kidney disease, Toe syndactyly, Hepatosplenomegaly, Genu valgum, Micrognathia, Protruding... OMIM:619488
Bent Bone Dysplasia Syndrome 2
Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fem... OMIM:620076
Monosomy 13Q34
Hematochezia, Epistaxis, Prolonged prothrombin time ORPHA:96168
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
Frontofacionasal Dysplasia
Non-midline cleft of the upper lip, Cleft palate, Microphthalmia ORPHA:1791
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial... OMIM:276820
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time ORPHA:79303
Microphthalmia/Coloboma 12
Optic nerve aplasia, Vesicoureteral reflux, Microphthalmia OMIM:120200
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Bilateral microphthalmos, Decreased testicular size, Persistence of primary teeth,... ORPHA:93325
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Carious teeth, Hydroureter, Urinary retention, Renal... ORPHA:90324
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Prolonged bleeding time, Ecchymosis ORPHA:287
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Bifid scrotum, Horseshoe kidney, ... ORPHA:322
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Broad hallux, Open mouth, Aplasia of the vagina, Postaxial polydactyly... ORPHA:457284
Microphthalmia, Syndromic 6
Bifid uvula, Renal hypoplasia, Toe syndactyly, Microglossia, Finger syndactyly, Retrognathia, Thu... OMIM:607932
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Incontinentia Pigmenti
Conical tooth, Delayed eruption of teeth, Oligodontia, Supernumerary ribs, Hypodontia, Hypoplasia... OMIM:308300
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Micrognathia, Cryptorchidism, Microphthalmia, Buphthalmos, Hypoplastic male exte... OMIM:236670
Frontonasal Dysplasia 2
Conical tooth, Bilateral cryptorchidism, Widely spaced teeth, Microphthalmia, Broad philtrum OMIM:613451
Atelis Syndrome 2
Clinodactyly, Diastema, Downturned corners of mouth, Thick lower lip vermilion, Micrognathia, Mic... OMIM:620185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Microphthalmia/Coloboma 9
Long philtrum, Microphthalmia OMIM:615145
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Unilateral renal agenesis, Microretrognathia, Abnormal renal collecting system morphology, Retrog... ORPHA:468631
Aicardi Syndrome
Precocious puberty, Cleft upper lip, Prominence of the premaxilla, Missing ribs, Rib fusion, Supe... OMIM:304050
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Charge Syndrome
Unilateral microphthalmos, Micrognathia, Cryptorchidism, Anophthalmia, Absent radius, Microphthal... OMIM:214800
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Retrognathia, Abnormal dental enamel morphology,... ORPHA:2556
Hellp Syndrome
Thrombocytopenia, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage ORPHA:244242
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Carious teeth, Natal tooth, Broad hallux, Clinodactyly, Downturned corners of mouth,... OMIM:620186
Limb-Mammary Syndrome
Bifid uvula, Toe syndactyly, Cleft lip, Oligodactyly, Malar flattening, Submucous cleft soft pala... ORPHA:69085
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Abnormal bleeding, Prolonged prothrombin time OMIM:616271
Neu-Laxova Syndrome 1
Toe syndactyly, Finger syndactyly, Clinodactyly, Radial deviation of finger, Cleft upper lip, Thi... OMIM:256520
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of the dentition, Microphthalmia ORPHA:1806
Wolf-Hirschhorn Syndrome
Micrognathia, Cryptorchidism, Radioulnar synostosis, Short hallux, Hypospadias, Hip dislocation, ... OMIM:194190
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Vaginal neoplasm, Micrognathia, Nephroblastoma, Ambiguous genitalia... ORPHA:1052
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Finger swelling, Camptodactyly of finger, Low-molecular-weight proteinuria, Genu v... OMIM:309000
Trichothiodystrophy 1, Photosensitive
Triangular mouth, Microphthalmia, Retrognathia, Hypogonadism OMIM:601675
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Small hand, Microphthalmia, Short foot, Cleft palate ORPHA:2714
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Lymph node hypoplasia, Recurrent sinusitis, Prostatitis, Epid... OMIM:300755
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia/Hypoplasia of the patella, High palate, Dislocated ... OMIM:135900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Thrombocytopenia, Prolonged prothrombin time OMIM:267700
Kasabach-Merritt Phenomenon
Thrombocytopenia, Purpura, Petechiae, Prolonged prothrombin time ORPHA:2330
Microphthalmia, Syndromic 1
Tooth malposition, Clinodactyly, Cryptorchidism, Anophthalmia, Renal hypoplasia/aplasia, Micropht... OMIM:309800
Pierson Syndrome
Hyperechogenic kidneys, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger anomaly, P... OMIM:609049
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Prolonged prothrombin time OMIM:617941
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Hypernatriuria, Abno... ORPHA:168558
Hemophagocytic Lymphohistiocytosis, Familial, 2
Reduced natural killer cell activity, Thrombocytopenia, Prolonged prothrombin time OMIM:603553
Okamoto Syndrome
Abnormally large globe, Exaggerated median tongue furrow, Downturned corners of mouth, Open bite,... ORPHA:2729
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precocious puberty in females,... ORPHA:90793
Fontaine Progeroid Syndrome
Small scrotum, Micrognathia, Narrow mouth, Protruding tongue, Cryptorchidism, Hypoplastic labia m... OMIM:612289
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Cryptorchidism, ... OMIM:107480
Histiocytoid Cardiomyopathy
Congenital aphakia, Polycystic ovaries, Cardiomegaly, Renal cyst, Microphthalmia, Hepatomegaly, C... ORPHA:137675
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Hypernatriuria, Abno... ORPHA:289548
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Prolonged prothrombin time, Thrombocytosis OMIM:212750
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Male urethral meatus stenos... OMIM:613406
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Tooth malposition, Multicystic kidney dysplasia, Long hallux, Genu valgum, Open mouth, Cryptorchi... ORPHA:261537
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Buphthalmos, Microphthalmia, Macroglossia, Cleft palate OMIM:613150
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
8Q24.3 Microdeletion Syndrome
Short hallux, Abnormality of the kidney, Cleft maxillary alveolar ridge, Short 5th finger, Bilate... ORPHA:508488
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Finger clinodactyly, Camptodactyly of ... ORPHA:306542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia, Adducted thumb, Retrognathia OMIM:614643
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Micrognathia, Microphthalmia, High palate, Prominent fingertip pads... OMIM:612474
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Delayed eruption of primary teeth OMIM:300952
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Mowat-Wilson Syndrome
Tooth malposition, Multicystic kidney dysplasia, Genu valgum, Open mouth, Cryptorchidism, Chordee... ORPHA:2152
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Streak ovary, Polycystic ovaries, Short philtrum, Hypergonadotropic hyp... ORPHA:572333
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Trichothiodystrophy
High, narrow palate, Carious teeth, Retrognathia, Bilateral microphthalmos, Gonadal dysgenesis, C... ORPHA:33364
Branchiooculofacial Syndrome
Abnormality of the dentition, Hypospadias, Short thumb, Cleft upper lip, Preaxial hand polydactyl... OMIM:113620
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level, Prolonged prothrombin time, Thr... OMIM:212065
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Tooth malposition, Multicystic kidney dysplasia, Long hallux, Genu valgum, Open mouth, Cryptorchi... ORPHA:261552
Treacher Collins Syndrome 1
Bilateral microphthalmos, Micrognathia, Cleft soft palate, Narrow mouth, Malar flattening, Crypto... OMIM:154500
Holoprosencephaly 7
Hypoplasia of the premaxilla, Unilateral cleft lip, Bilateral microphthalmos, Median cleft palate... OMIM:610828
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Short lingual frenulum, Abnormal reproductive system morphology, Bifid uterus, High palate, Unila... ORPHA:1521
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Micrognathia, Cleft palate, Microphthalmia OMIM:153400
Alg12-Cdg
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Delayed eruption of primary teeth, Absence of Sten... OMIM:149730
Monosomy 13Q14
Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Brachydactyly, Microphthalmia, ... ORPHA:1587
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Microphthalmia OMIM:610651
Oculoauricular Syndrome
Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia, Short mandibular rami OMIM:612109
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Craniofacial Microsomia 1
Hypoplasia of the maxilla, Multicystic kidney dysplasia, Renal agenesis, Cleft upper lip, Cervica... OMIM:164210
Frontofacionasal Dysplasia
Bifid uvula, Hypoplasia of the frontal bone, Cleft upper lip, Malar flattening, Orofacial cleft, ... OMIM:229400
Neuroocular Syndrome 1
Short uvula, Prominent fingertip pads, Downturned corners of mouth, Tibial torsion, Hyperextensib... OMIM:619539
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time, Thrombocytosis ORPHA:20
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Abnormal scrotal rugation, Microphallus, Gonadal dysgenesis, Thick upper li... ORPHA:284339
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Adams-Oliver Syndrome 1
Imperforate hymen, Toe syndactyly, Cleft upper lip, Brachydactyly, Microphthalmia, Cleft palate OMIM:100300
Craniorachischisis
Bifid sternum ORPHA:63260
Isolated Arrhinia
Hypoplasia of the nasal bone, Microphthalmia ORPHA:1134
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Premature fusion of the radial e... ORPHA:90794
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Abnormality of the medullary cavity of the long bones, Microphtha... OMIM:127000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time ORPHA:309854
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Decreased circulating antibody level, Abnormal bleeding, Prolonged p... ORPHA:247598
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Yellow Fever
Abnormal bleeding, Excessive bleeding after a venipuncture, Hematemesis, Internal hemorrhage, Thr... ORPHA:99829
Holoprosencephaly 2
Bifid uvula, Median cleft palate, Malar flattening, Submucous cleft hard palate, Bilateral cleft ... OMIM:157170
Abetalipoproteinemia
Abnormal bleeding, Prolonged prothrombin time ORPHA:14
Loeys-Dietz Syndrome
Bifid uvula, Uterine rupture, Camptodactyly of finger, Micrognathia, Malar flattening, Arachnodac... ORPHA:60030
Mowat-Wilson Syndrome
Tooth malposition, Delayed eruption of teeth, Bifid scrotum, Widely spaced teeth, Cryptorchidism,... OMIM:235730
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Marburg Hemorrhagic Fever
Abnormal bleeding, Bruising susceptibility, Excessive bleeding after a venipuncture, Petechiae, I... ORPHA:99826
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia, Long philtrum, Thick vermilion border ORPHA:2526
Acute Liver Failure
Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Thrombocytopenia, Prolon... ORPHA:90062
Pallister-Killian Syndrome
Small scrotum, Small hand, Postaxial foot polydactyly, Micrognathia, Cryptorchidism, Hypoplastic ... OMIM:601803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Malar flattening, Hypoplasia of the retina, Everted lower lip vermilion, Microphtha... OMIM:253280
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Metaphyseal widening, Tibial bowing, Microphthalmia OMIM:259770
Holoprosencephaly 1
Median cleft upper lip, Micropenis, Median cleft palate, Microphthalmia OMIM:236100
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Periodontitis, Uterine rupture, Cystocele, Metacarpophalangeal joint hyperex... OMIM:130050
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time ORPHA:404454
Norrie Disease
Uterine rupture, Hypoplasia of the iris, Malar flattening, Cryptorchidism, Aplasia/Hypoplasia of ... ORPHA:649
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Prolonged prothrombin time ORPHA:171
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Congenital hip dislocation, Abnormality of the dentition, Carious teeth, Per... ORPHA:286
Congenital Disorder Of Glycosylation, Type Iiw
Bleeding with minor or no trauma, Thrombocytopenia, Prolonged prothrombin time OMIM:619525
Phace Syndrome
Lens coloboma, Optic nerve hypoplasia, Microphthalmia 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
Mink1em1(IMPC)Tcp Exon Deletion Mice

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