Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
enlarged lymph nodes Mink1em1(IMPC)Tcp HOM Early adult 0.00
small uterus Mink1em1(IMPC)Tcp HOM Early adult 0.00
abnormal tooth morphology Mink1em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Mink1em1(IMPC)Tcp HOM Early adult 0.00
enlarged kidney 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

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 Slit Lamp

27 Images

Eye Morphology

Images Ophthalmoscopy

97 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

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 aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Thrombocytopenia 7
Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced plat... OMIM:619130
Glanzmann Thrombasthenia 2
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D... OMIM:619267
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Bleeding Disorder, Platelet-Type, 18
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men... OMIM:615888
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Thrombocytopenia 9
Abnormal bleeding, Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate... OMIM:618462
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa... OMIM:619271
Bleeding Disorder, Platelet-Type, 11
Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ... OMIM:614201
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb... OMIM:124900
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired... OMIM:273800
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis, Epistaxis, Persistent b... OMIM:609821
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired epinephrine-induced plat... OMIM:187950
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding OMIM:608404
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis... OMIM:614009
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:173420
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal platelet function, Thrombocytopenia ORPHA:231393
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Bleeding Disorder, Platelet-Type, 25
Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi... OMIM:620486
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Abnormal bleeding, Giant platelets, Impaired platelet aggregation, Petechi... OMIM:187800
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno... OMIM:231200
Von Willebrand Disease, Type 3
Abnormal bleeding, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopenia... OMIM:277480
Glanzmann Thrombasthenia
Spontaneous hematomas, Purpura, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Giant platelets, Impaired epinephrine-induced platelet aggregation, Impaired A... OMIM:155100
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bru... OMIM:605735
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni... OMIM:601709
Factor V Deficiency
Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P... OMIM:227400
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:617443
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Bruising susceptib... OMIM:614076
Gray Platelet Syndrome
Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu... OMIM:139090
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Impaired platelet aggregation, Spontaneous, recurrent epistaxis, Gingival blee... OMIM:614072
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epista... OMIM:193400
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding OMIM:185050
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... OMIM:613679
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:188025
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Abnormal dense granule content, Impaired platelet aggregation, Petechiae, Abnormal plate... OMIM:601399
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Gingival bleeding, Impaired ADP-induced platelet aggregation, Increased mean platelet ... OMIM:153670
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc... ORPHA:238459
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopenia, Epi... OMIM:314050
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Hemophilia B
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... ORPHA:98879
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Thrombocy... OMIM:614074
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele... ORPHA:274
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Immunodeficiency 81
Petechiae, Reduced antigen-specific T cell proliferation, Impaired collagen-induced platelet aggr... OMIM:619374
Meckel Syndrome, Type 8
Polydactyly, Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Cleft up... OMIM:613885
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Myh9-Related Disease
Giant platelets, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Menorrhagia, B... ORPHA:182050
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Mmep Syndrome
Orofacial cleft, Microphthalmia, Triphalangeal thumb, Mandibular prognathia, Split foot, Cryptorc... ORPHA:3434
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Abnormal rib morpholog... OMIM:601076
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi... ORPHA:903
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, Bruisi... OMIM:619172
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Essential Thrombocythemia
Abnormal bleeding, Thrombocytosis, Abnormal platelet morphology, Bruising susceptibility, Prolong... ORPHA:3318
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... OMIM:604928
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici... ORPHA:325
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... OMIM:619902
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... OMIM:227600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Femoral bowing, Short long bone, Short ribs, Absent tibia, Cone-shaped epiphysis... OMIM:613091
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia, Absent testis OMIM:613094
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Microphthalmia, Delayed eruption of teeth, Periodont... ORPHA:2791
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Microphthalmia, Syndromic 12
Retrognathia, Microphthalmia, Anophthalmia, Bicornuate uterus, Micrognathia, Cleft palate, Crypto... OMIM:615524
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Microphthalmia, Narrow mouth, High palate, Hypogonadism ORPHA:2528
Microphthalmia, Syndromic 8
Orofacial cleft, Microphthalmia, Mandibular prognathia, Split foot, Cleft upper lip, Cleft palate... OMIM:601349
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Bowing of the long bones, Abnormality of the dentition, Carious t... ORPHA:2501
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Thrombocytopenia, Macrothrombocytope... OMIM:603585
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly, Median cleft palate ORPHA:2432
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Aa Amyloidosis
Abnormality of the kidney, Acute kidney injury, Enlarged kidney, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Cleft palate, Microphthalmia OMIM:616570
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Clinodactyly of the 5th finger, Tooth a... ORPHA:1077
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... OMIM:277000
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agen... OMIM:617914
Hermansky-Pudlak Syndrome 8
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Gingival bleeding, Menor... OMIM:614077
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Thrombocytopenia, Bruising susceptibility, Intracranial hemorrhage, ... ORPHA:3226
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male... OMIM:194080
Cat-Eye Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Abnormal rib morphology, Hydronephrosis, Abnormal local... ORPHA:195
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Orofacial cleft, Microphthalmia, Anophthalmia OMIM:611638
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the ... ORPHA:2547
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Satoyoshi Syndrome
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas... ORPHA:3130
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia, Hypospadias, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... ORPHA:35909
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Meckel Syndrome 12
Rocker bottom foot, Bilateral renal agenesis, Ureteral hypoplasia, Micrognathia, Bifid uvula, Ren... OMIM:616258
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Microphthalmia, Cleft palate, Hematuria OMIM:120433
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Small scrotum, Bilateral cleft lip, Sex r... OMIM:612651
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft palate, Unicornuate uterus, Bilateral cleft lip OMIM:600776
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu... OMIM:614075
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Sitosterolemia 1
Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Abnormal bleeding OMIM:210250
2Q24 Microdeletion Syndrome
Microphthalmia, Short philtrum, Bullet-shaped distal phalanx of the hallux, Abnormal oral frenulu... ORPHA:1617
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Micrognathia, Enlarged kidney OMIM:618272
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Microphthalmia, Proximal placement of thumb, Short philtrum, Bowi... ORPHA:93267
Pierpont Syndrome
Short finger, Thin vermilion border, Widely spaced teeth, Microphthalmia, Long upper lip, Promine... OMIM:602342
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Renal dysplasia, High palate, Hypergonadotropic hyp... OMIM:154230
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Pierpont Syndrome
Short finger, Thin vermilion border, Widely spaced teeth, Microphthalmia, Long upper lip, Promine... ORPHA:487825
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage ORPHA:90308
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Impaired platelet adhesion, Oral cavity bleeding, Menorrhagia, Joint... ORPHA:324636
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Hammertoe, Nephroblastomatosis, Missing ribs, ... OMIM:608022
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Seckel Syndrome 2
Microphthalmia, Clinodactyly of the 5th finger, Hypospadias, Ectopic kidney, Microdontia, Microgn... OMIM:606744
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Ecchymosis, Epistaxis, Hematochezia, Bruising susceptibility, Prolonged bleedi... OMIM:203300
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Thin ribs, Femoral bowing, Short long b... OMIM:618188
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Slender long bone, Flared metaphysis, Thin ribs, Ankyloglossia, Aspleni... OMIM:602361
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... OMIM:166750
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Abnormal morphology of the radius, Narrow mouth, Microphthalmia ORPHA:3469
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Enlarged kidney, Abnormal femur morphology, Abnormality of the lymph... ORPHA:464329
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Müllerian Aplasia And Hyperandrogenism
Short philtrum, Abnormal vagina morphology, Abnormality of the ovary, Renal agenesis, Cleft palat... ORPHA:247768
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Clubbing, Flared iliac wing, Focal segmental glomerulosclerosis, N... OMIM:617303
Pyle Disease
Genu valgum, Delayed eruption of teeth, Mandibular prognathia, Hypoplastic frontal sinuses, Persi... OMIM:265900
Facial Clefting, Oblique, 1
Cleft upper lip, Microphthalmia, Cleft palate OMIM:600251
Trisomy 13
High, narrow palate, Microphthalmia, Anophthalmia, Postaxial hand polydactyly, Abnormal pelvic gi... ORPHA:3378
Braddock-Carey Syndrome 2
Retrognathia, Microphthalmia, Cleft palate, Pierre-Robin sequence, Wide mouth, Clinodactyly OMIM:619981
Bent Bone Dysplasia Syndrome 1
Clitoral hypertrophy, Abnormally large globe, Hypoplastic pubic bone, Short clavicles, Gingival o... OMIM:614592
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... OMIM:263200
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Temtamy Syndrome
Abnormal palate morphology, Microphthalmia, Thick lower lip vermilion, Clinodactyly of the 5th fi... ORPHA:1777
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Pelvic kidney, Bicornuate uterus, ... OMIM:601186
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Enla... OMIM:608233
Nanophthalmos
Microphthalmia ORPHA:35612
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Meckel Syndrome, Type 5
Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Cleft upper lip... OMIM:611561
Cofs Syndrome
Microphthalmia, Everted lower lip vermilion, Camptodactyly of finger, Micrognathia, Hypogonadism ORPHA:1466
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, High palate, Tooth agenesis, Cleft palate, Hypogonadotropic hypogonadism ORPHA:1135
Moebius Syndrome
High palate, Radial deviation of finger, Microphthalmia, Split hand, Abnormal pelvic girdle bone ... OMIM:157900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Genu valgum, Small epiphyses, Mandibular prognathia, Short long bone, Hi... OMIM:618363
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia With Limb Anomalies
Retrognathia, Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocati... OMIM:206920
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, Enlarged kidney, Abnormality of the lymphatic system, Foot polydactyly, 2-4 toe syn... ORPHA:276280
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Vesicoureteral reflux, Abnormal spleen morphology, Renal hypoplasia... ORPHA:2470
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Postaxial hand polydactyly, Hypopl... ORPHA:85284
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Short philtrum, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, ... ORPHA:163966
Hemophilia B
Prolonged prothrombin time, Hematemesis, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he... OMIM:306900
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly OMIM:610023
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, Absent radi... ORPHA:3320
Hydrolethalus
Retrognathia, Gingival cleft, Microphthalmia, Abnormal fallopian tube morphology, Anophthalmia, P... ORPHA:2189
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Enlarged kidney, Ureteral duplication, Tapered toe, Hepatomegaly, Long-chain dicar... OMIM:608836
Nanophthalmos 4
Microphthalmia OMIM:615972
Joubert Syndrome 22
Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly, Renal hypoplasia, Postaxial foot ... OMIM:615665
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Microphthalmia, Short long bone, Short ribs, Flat acetabular roof, ... OMIM:616300
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Wide mouth, Splenomega... OMIM:252500
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short philtrum, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Thick vermil... OMIM:615866
H Syndrome
Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, Gingival overgrowth, Ca... ORPHA:168569
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the maxilla, Nephrotic syndrome... OMIM:301108
Warburg Micro Syndrome 1
Thin vermilion border, Microphthalmia, External genital hypoplasia, Narrow mouth, Micrognathia, O... OMIM:600118
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge... OMIM:614851
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Long philtrum, Thin vermilion bord... OMIM:257850
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Mgat2-Cdg
Impaired platelet aggregation, Decreased circulating IgG level, Abnormal bleeding, Decreased circ... ORPHA:79329
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Femoral bowing, Asplenia, Cystic renal dysplasia OMIM:615415
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Fanconi Anemia, Complementation Group S
Narrow palate, Microphthalmia, Ovarian neoplasm, Proximal placement of thumb, Dental malocclusion... OMIM:617883
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... OMIM:277450
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Microphthalmia, Genu valgum, Clinodactyly of the 5th finger, Hammerto... ORPHA:2712
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Widely spaced teeth, Microdontia, Camptodactyly, Micrognathia, Down-sloping shoul... OMIM:619694
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia, Short thumb OMIM:609054
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Congenital hip dislocation, Cleft palate, Cryptorchidism OMIM:164180
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Proximal placement of thumb, Hand polydactyly, Short humerus, Hydronephrosis, Ur... OMIM:314390
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Purpura, Petechiae, Abnormal platelet function, Gingival blee... ORPHA:906
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Sandal gap, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth... OMIM:618727
Popliteal Pterygium Syndrome
Bifid scrotum, Cutaneous finger syndactyly, Cleft upper lip, Bifid uvula, Cleft palate, Fibrous s... OMIM:119500
Frontonasal Dysplasia 1
Microphthalmia, Radial deviation of finger, Postaxial hand polydactyly, Camptodactyly, Hypoplasti... OMIM:136760
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, Microphthalmia, Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly... OMIM:618914
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth OMIM:615887
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Tetraamelia-Multiple Malformations Syndrome
Orofacial cleft, Microphthalmia, Narrow mouth, Aplasia/Hypoplasia involving the pelvis, Abnormal ... ORPHA:3301
Congenital Fibrinogen Deficiency
Microphthalmia, Clubbing of fingers, Hemorrhagic ovarian cyst, Gingival bleeding, Decreased testi... ORPHA:335
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level OMIM:274270
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Ring Chromosome 10 Syndrome
Thin vermilion border, Microphthalmia, Renal hypoplasia/aplasia, Sandal gap, Micrognathia, Long p... ORPHA:1438
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Microphthalmia, Unilateral renal agenesis, Prominent fingertip pads, Renal h... OMIM:618494
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Micrognathia, Hors... OMIM:266810
Epidermolysis Bullosa, Junctional 1A, Intermediate
Enamel hypoplasia, Camptodactyly of finger, Carious teeth, Hypodontia, Oral mucosal blisters OMIM:226650
Bartsocas-Papas Syndrome 2
Microphthalmia, Bilateral cleft palate, Absent distal phalanges, 2-5 finger cutaneous syndactyly,... OMIM:619339
Nance-Horan Syndrome
Supernumerary tooth, Microphthalmia, Mandibular prognathia, Abnormality of the dentition, Short m... ORPHA:627
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Craniometadiaphyseal Dysplasia
Genu valgum, Abnormally large globe, Flared metaphysis, Dental crowding, Mandibular prognathia, H... OMIM:269300
Amed Syndrome, Digenic
Bone marrow hypocellularity, Hypoplasia of the uterus, Long thumb OMIM:619151
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Flexion contracture of toe, Finger joint contracture, Micrognathia, Hypogonadotro... ORPHA:48431
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Abnormality of... ORPHA:432
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Abnormal dental enamel morphology, Macroscopic hematuria, Proteinuria, Membranop... ORPHA:251004
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Microphthalmia, Camptodactyly of finger, Micrognathia, Small scrotum, Micropenis OMIM:610756
Alg9-Cdg
Narrow greater sciatic notch, Enlarged kidney, Hepatomegaly, Hitchhiker thumb, Hypoplasia of the ... ORPHA:79328
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypopla... OMIM:300863
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Thin vermilion border, Unilateral renal agenesis, Accessory spleen, Hypodonti... OMIM:618419
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, ... OMIM:615873
Pelvis-Shoulder Dysplasia
Microphthalmia, Clinodactyly of the 5th finger, Hypoplastic acetabulae, Short clavicles, Hypoplas... OMIM:169550
Congenital Toxoplasmosis
Cardiomegaly, Microphthalmia, Hepatomegaly, Lymphadenopathy ORPHA:858
Fanconi Anemia, Complementation Group R
Microphthalmia, Radial dysplasia, Pelvic kidney, Bone marrow hypocellularity, Absent thumb, Agene... OMIM:617244
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Thin vermilion border, Microphthalmia, Second metatarsal posteriorly placed, ... OMIM:214150
Nance-Horan Syndrome
Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped incisors, Short... OMIM:302350
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microphthalmia OMIM:300915
Microphthalmia, Lenz Type
Orofacial cleft, Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Hy... ORPHA:568
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos, Horseshoe kidney OMIM:619318
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Syndactyly, Smooth philtrum, Nephroblastoma OMIM:602501
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Micrognathia, Microphthalmia OMIM:616171
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Hypospadias, Multiple glomerular cysts, Unilateral renal agenesis, Abn... OMIM:137920
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Long philtrum, Microphthalmia, Abnormal femoral neck/head morphology, Flat acetabular roof, High ... ORPHA:163649
Microphthalmia With Limb Anomalies
Microphthalmia, Sandal gap, Tibial bowing, Short long bone, Broad thumb, Hypoplasia of the premax... ORPHA:1106
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Widely spaced teeth, Multiple bladder diverticula, Microdontia, Hypoplasia of tee... ORPHA:2728
Igg4-Related Kidney Disease
Enlarged kidney, Urinary bladder inflammation, Acute kidney injury, Abnormal ureter morphology, C... ORPHA:449395
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Cousin Syndrome
Ambiguous genitalia, male, Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Hypopl... OMIM:260660
Mixed Connective Tissue Disease
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura ORPHA:809
Joubert Syndrome 37
Microphthalmia, Hepatomegaly, High palate, Decreased testicular size, Postaxial polydactyly, Hydr... OMIM:619185
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Medullary nephrocalcinosis, Hypoplasia of teeth, Carious teeth, Hyperphosphaturia, G... OMIM:613312
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Bilateral microphthalmos, Prominent protruding coccyx, Dislocate... ORPHA:2839
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r... OMIM:609945
Wiskott-Aldrich Syndrome
Hematemesis, Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensiti... OMIM:301000
Hartsfield Syndrome
Microphthalmia, Non-midline cleft of the upper lip, Split hand, Cleft palate, Aplasia/Hypoplasia ... ORPHA:2117
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ... ORPHA:49566
Cleidocranial Dysplasia
Glossoptosis, Sinusitis, Abnormal epiphysis morphology, Abnormal metacarpal morphology, Abnormali... ORPHA:1452
Monosomy 18P
Microphthalmia, Short philtrum, Tooth malposition, Carious teeth, Downturned corners of mouth, Cl... ORPHA:1598
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Asplenia, Ureteral atresia, Splenomeg... OMIM:208540
Pallister-Hall Syndrome
Microphthalmia, Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, ... OMIM:146510
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Abnormal finger morphology, Oligodactyly, Aplastic clav... ORPHA:2538
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Baraitser-Winter Syndrome 2
Retrognathia, Orofacial cleft, Microphthalmia, Wide mouth, Long philtrum, Thin upper lip vermilion OMIM:614583
Temtamy Syndrome
Microphthalmia, Dental crowding, Short 2nd toe, Hypoplasia of teeth, Micrognathia, Brachydactyly,... OMIM:218340
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly, High palate, Renal hypoplasia, Ketonuria OMIM:619053
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft palate, Microphthalmia, Hematuria ORPHA:1473
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Short ribs, Flared il... OMIM:312870
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Lymphoid Interstitial Pneumonia
Enlarged kidney, Clubbing, Mediastinal lymphadenopathy, Hepatomegaly ORPHA:79128
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Oral ulcer, Nephrolithiasis,... OMIM:232220
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Oral ulcer, Lymph node hypoplasia, Splenomegaly, Aplasia of the thy... OMIM:602450
Perrault Syndrome 4
Hypoplasia of the ovary, Cleft palate, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Bifid scrotum, Left ventricular hypertrophy, Overlapping toe, Penoscrotal transpo... OMIM:619148
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Abnorm... ORPHA:404440
Mosaic Trisomy 9
Rocker bottom foot, Hypoplastic female external genitalia, Finger clinodactyly, Microphthalmia, A... ORPHA:99776
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph... OMIM:130650
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
3P25.3 Microdeletion Syndrome
High, narrow palate, Microphthalmia, Proximal placement of thumb, Short philtrum, Mandibular prog... ORPHA:435638
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Endometriosis, Recurrent urinary tract infections, Carious teeth, Velo... OMIM:613680
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Microphthalmia, Short philtrum, Beta-alaninuria, High pala... OMIM:614105
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Marden-Walker Syndrome
High, narrow palate, Microphthalmia, Hypospadias, High palate, Narrow mouth, Camptodactyly, Arach... OMIM:248700
Martsolf Syndrome 1
Microphthalmia, Slender ulna, Short metacarpal, Broad femoral neck, Long philtrum, Short philtrum... OMIM:212720
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Cl... OMIM:603194
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatomegaly, Periodontitis, Tubulointerstitial fibrosis, Oral ulcer, Gingivitis... ORPHA:79259
Microphthalmia, Syndromic 11
Cleft upper lip, Microphthalmia, Cleft palate OMIM:614402
Mosaic Trisomy 1
Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyly, Wide mouth, Long toe, Deviatio... ORPHA:1692
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Meacham Syndrome
Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S... OMIM:608978
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Cleft soft palate, Broad thumb, Micrognathia, Smooth philtrum, Brachydactyly OMIM:614526
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Endometriosis, T... ORPHA:363444
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Aplasia of the vagina, Aplasia of the uterus, Uterus didel... OMIM:146255
Chromosome 17Q12 Deletion Syndrome
Retrognathia, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Ure... OMIM:614527
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bilateral cleft palate, High palate, Unilateral microphthalmos, Ankyloglossia, Ename... OMIM:618874
Baraitser-Winter Syndrome 1
Retrognathia, Orofacial cleft, Microphthalmia, Duplication of phalanx of hallux, Cleft upper lip,... OMIM:243310
Meckel Syndrome 14
Retrognathia, Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus, Postaxial hand ... OMIM:619879
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Postaxial hand polydactyly, Polysplenia OMIM:200995
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia, Abnormal femoral neck/head morphology, Crumpled lon... ORPHA:2788
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Polyuria, Gingival fibromatosis, Impaired renal concentrating ability, D... OMIM:204690
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Microphthalmia, Short first metatarsal, Ulnar bowing, Epiphyseal stipplin... OMIM:619135
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Microphthalmia ORPHA:324416
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Abnormal thumb morphology, Enlarged kidney, Tibial bowing, Abnormal femoral to... ORPHA:500095
Garg-Mishra Progeroid Syndrome
Microphthalmia, Slender long bone, Dental crowding, Thin ribs, Micrognathia, Slender metacarpals,... OMIM:620601
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Bilateral cryptorchidism, Downturned corners of mouth, Smooth philtrum, Cardiomegaly OMIM:618652
Fraser Syndrome 2
Microphthalmia, Unilateral renal agenesis, Bilateral renal agenesis, Narrow mouth, Aplasia of the... OMIM:617666
Cohen Syndrome
Microphthalmia, Abnormal hip bone morphology, Sandal gap, Tooth agenesis, Arachnodactyly, Short p... ORPHA:193
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Microphthalmia, Cleft palate ORPHA:261272
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Microphthalmia, Abnormal renal morphology, Optic nerve hypoplasia, Vesi... OMIM:609053
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Microphthalmia, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of... ORPHA:290
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin vermilion border, Microphthalmia, Short palm, Thin upper lip vermilion, Bifid uvula, Microgn... OMIM:241410
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Postaxial polys... ORPHA:2919
Pycnodysostosis
Narrow palate, Absent frontal sinuses, Narrow iliac wing, Osteolytic defects of the distal phalan... OMIM:265800
Stevenson-Carey Syndrome
Microphthalmia, Recurrent urinary tract infections, Narrow mouth, Camptodactyly, Downturned corne... OMIM:611961
8Q21.11 Microdeletion Syndrome
Microphthalmia, Abnormal metacarpal morphology, Short philtrum, Hypoplasia of penis, Finger synda... ORPHA:284160
Pseudotrisomy 13 Syndrome
Microphthalmia, 11 pairs of ribs, 2-3 toe syndactyly, Postaxial hand polydactyly, Bicornuate uter... OMIM:264480
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Proximal placement of thumb, Anophthalmia, Finger syndactyly, High palate, Crypto... ORPHA:139471
Ogden Syndrome
Everted upper lip vermilion, Enlarged kidney, Sandal gap, Long philtrum, Cardiomegaly, Narrow pal... OMIM:300855
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Microphthalmia, Hypoplast... OMIM:617925
Chédiak-Higashi Syndrome
Abnormal bleeding, Increased proportion of CD25+ mast cells, Abnormal platelet function, Gingival... ORPHA:167
Fryns Syndrome
Long philtrum, Microphthalmia, Clinodactyly of the 5th finger, Hypospadias, Non-midline cleft of ... ORPHA:2059
Focal Dermal Hypoplasia
Microphthalmia, Renal hypoplasia/aplasia, Short ribs, Hypoplastic pelvis, Split foot, Tooth agene... ORPHA:2092
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Microphthalmia, Flared metaphysis, Short long bone, Metaphyseal spu... ORPHA:85167
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Clitoral hypertrophy, Microphthalmia, Hypospadias, Short philtrum, 2-3 toe syndacty... OMIM:616449
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Nephrotic syndrome, Bone marrow hypocellularity, Hepatosplenomegaly, Thick vermi... ORPHA:505248
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cryptorchidism, Hypogonadism OMIM:601794
Teebi-Shaltout Syndrome
Rocker bottom foot, Caudal appendage, High, narrow palate, Microphthalmia, Oligodontia, Narrow mo... OMIM:272950
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Ohdo Syndrome, X-Linked
Long philtrum, Thin vermilion border, Widely spaced teeth, Microphthalmia, High palate, Narrow mo... OMIM:300895
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Thin ribs, Microphthalmia, Narrow mouth OMIM:614833
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Microphthalmia, Flared metaphysis, Metaphyseal cuppin... OMIM:608940
Proteus Syndrome
Macrodactyly, Enlarged kidney, Abnormal finger morphology, Tooth agenesis, Lymphangioma, Splenome... ORPHA:744
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Microphthalmia, Sandal gap OMIM:300887
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Conical tooth, Abnormality of the dentition, Hypogonadism, Broad philtrum, Small ... ORPHA:228390
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... OMIM:232200
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, Microphthalmia, Everted lower lip vermilion, Contracture of the proximal interphala... ORPHA:464738
2Q31.1 Microdeletion Syndrome
Microphthalmia, Sandal gap, Everted lower lip vermilion, Long philtrum, Abnormal fibula morpholog... ORPHA:251014
Momo Syndrome
Bilateral microphthalmos, Thick lower lip vermilion, Delayed eruption of teeth, Femoral bowing, H... ORPHA:2563
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microphthalmia, Oligodontia,... ORPHA:364577
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Widely spaced teeth, Short philtrum, Sandal gap, High palate, Cleft upper lip, Cl... OMIM:612530
Sandestig-Stefanova Syndrome
Rocker bottom foot, Retrognathia, Orofacial cleft, Microphthalmia, High palate, Camptodactyly, Cl... OMIM:618804
Micro Syndrome
Microphthalmia, Short philtrum, Hypoplasia of penis, Hypoplastic labia minora, High palate, Clito... ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Bilateral microphthalmos, Flexion contracture of toe, Short philtrum, Flared ... OMIM:610758
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Duane-Radial Ray Syndrome
Microphthalmia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Renal malrota... OMIM:607323
Acro-Renal-Ocular Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Sandal gap, Short humerus, Renal malrotation, Hypoplasi... ORPHA:959
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Treacher-Collins Syndrome
Retrognathia, Microphthalmia, Hypoplasia of penis, Glossoptosis, Tooth agenesis, Wide mouth, Smal... ORPHA:861
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Tooth malposition, Anophthalmia... ORPHA:2250
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, 11 pairs of ribs, Hypospadias, Hypoplasia of penis, Anophthalmia, Cryptorchidism ORPHA:77298
Kapur-Toriello Syndrome
Clinodactyly of the 5th toe, Microphthalmia, Abnormality of the urinary system, Camptodactyly of ... OMIM:244300
Roberts Syndrome
Clitoral hypertrophy, Radial deviation of finger, Microphthalmia, Proximal placement of thumb, Sa... ORPHA:3103
3Q29 Microdeletion Syndrome
Orofacial cleft, Microphthalmia, Clinodactyly of the 5th finger, Hypospadias, Short philtrum, Hor... ORPHA:65286
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ... OMIM:276700
Warburg Micro Syndrome 3
Narrow palate, Microphthalmia, Clinodactyly of the 5th finger, Hypoplastic labia minora, Decrease... OMIM:614222
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Multiple Benign Circumferential Skin Creases On Limbs
Long philtrum, Microphthalmia, Hypospadias, Micrognathia, Abnormal scrotum morphology, Cleft pala... ORPHA:2505
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate, Cryptorchidism, Micropenis OMIM:610125
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Menorrhagia, Joint hemorrhage, E... ORPHA:99147
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, 2-3 toe syndactyly, Aplasia of the ut... OMIM:618280
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Mandi... ORPHA:116
Orofaciodigital Syndrome Iii
Supernumerary tooth, Postaxial hand polydactyly, Microdontia, Short sternum, Bifid uvula, Tongue ... OMIM:258850
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Widely spaced teeth, Mandibular prognathia, High palate, Camptodactyly,... ORPHA:369891
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries, Delayed epiphyseal ossification ORPHA:785
Fanconi Anemia, Complementation Group F
Hypoplasia of the radius, Microphthalmia, Pelvic kidney, Vesicoureteral reflux, Microphallus, Ren... OMIM:603467
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Vacterl With Hydrocephalus
Hypoplasia of the radius, Retrognathia, Renal hypoplasia/aplasia, Microphthalmia, Abnormal fallop... ORPHA:3412
Papillorenal Syndrome
Microphthalmia, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithi... OMIM:120330
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Renal dysplasia, Downturned corners of mouth, Cleft palate, Microretrognathia, Lo... OMIM:618571
Oculodentodigital Dysplasia
Microphthalmia, Joint contracture of the 5th finger, Broad alveolar ridges, 4-5 finger syndactyly... OMIM:164200
Subaortic Stenosis-Short Stature Syndrome
Micrognathia, Microphthalmia, Synostosis of carpal bones, Microdontia ORPHA:3191
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Meckel Syndrome, Type 4
Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Cleft palate OMIM:611134
Fryns Syndrome
Rocker bottom foot, Microphthalmia, Ureteral duplication, Proximal placement of thumb, Prominent ... OMIM:229850
Meckel Syndrome
Microphthalmia, Ureteral duplication, Anophthalmia, Accessory spleen, Aplasia/Hypoplasia of the i... ORPHA:564
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Retrognathia, Microphthalmia, Short philtrum, Joint contracture of the 5th finger, 2-3 toe syndac... OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Macroglossia OMIM:613155
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Meckel Syndrome, Type 1
Ambiguous genitalia, male, Microphthalmia, Radial deviation of finger, Wide mouth, Syndactyly, Sp... OMIM:249000
Peters-Plus Syndrome
Square pelvis bone, Ureteral duplication, Proximal placement of thumb, Short metacarpal, Syndacty... OMIM:261540
Myoclonic-Astatic Epilepsy
Microphthalmia, Thick lower lip vermilion, Wide mouth, Syndactyly, Broad philtrum, Long philtrum,... ORPHA:1942
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Hypospadias, Vesicoureteral reflux, Micrognathia, Hip dysplasia, Cryptorchidism ORPHA:494344
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Short philtrum, Exaggerated cupid's bow, High palate, Short metacarpal, Camptodac... OMIM:614230
Tetraamelia Syndrome 1
Microphthalmia, Hypoplasia of the fallopian tube, Hypoplastic pelvis, Renal agenesis, Cleft upper... OMIM:273395
Oculocerebrorenal Syndrome Of Lowe
Cheilitis, Microphthalmia, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Nephroca... ORPHA:534
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Microphthalmia, Hypospadias, Ovotestis, Chordee, Cleft palate, Micropenis, ... OMIM:309801
Microcephaly-Micromelia Syndrome
Microphthalmia, Oligodactyly, Narrow mouth, Missing ribs, Forearm undergrowth, Humeroradial synos... OMIM:251230
Curry-Jones Syndrome
Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, P... ORPHA:1553
Yunis-Varon Syndrome
Rocker bottom foot, Clitoral hypertrophy, Microphthalmia, Broad secondary alveolar ridge, Abnorma... ORPHA:3472
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Hepatomegaly, Splenomegaly OMIM:615085
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Stromme Syndrome
Preaxial polydactyly, Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Micrognathia, Cle... OMIM:243605
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, High palate, Hypoplasia of the uterus OMIM:110100
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Bilateral microphthalmos, Optic nerve hypoplasia, Cleft upper lip, Cleft pal... OMIM:607597
Fanconi Anemia, Complementation Group A
Microphthalmia, Ectopic kidney, Duplicated collecting system, Abnormal renal morphology, Hypergon... OMIM:227650
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Hypospadias, Dental malocclusion, High palate, Paranasal sinus hypoplasia, Hypopl... OMIM:603457
Dysosteosclerosis
Diaphyseal undertubulation, Abnormal metaphyseal trabeculation, Flared metaphysis, Delayed erupti... OMIM:224300
Refsum Disease
Microphthalmia, Hammertoe, Short metacarpal, Splenomegaly, Abnormal epiphysis morphology, Renal i... ORPHA:773
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Bilateral cryptorchidism, Eclabion, Carious teeth, Natal tooth OMIM:616395
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Unilateral renal dysplasia, Apl... OMIM:184705
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Leprechaunism
Clitoral hypertrophy, Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis... ORPHA:508
Premature Aging Syndrome, Penttinen Type
Retrognathia, Thin vermilion border, Microphthalmia, Slender long bone, Delayed eruption of teeth... OMIM:601812
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid distal phalanx of the thumb... OMIM:200990
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Thick lower lip vermilion, Mandibular prognathia, Long philtrum, Deep philtrum, T... OMIM:152950
Fanconi Anemia, Complementation Group E
Microphthalmia, Ectopic kidney, Duplicated collecting system, Hypergonadotropic hypogonadism, Ren... OMIM:600901
1Q21.1 Microdeletion Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Vesicoureteral reflux, High palate, Ankyloglossia... ORPHA:250989
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Fanconi Anemia, Complementation Group L
Microphthalmia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Micrognathia,... OMIM:614083
Hallermann-Streiff Syndrome
Supernumerary tooth, High, narrow palate, Microphthalmia, Clinodactyly of the 5th finger, Short r... ORPHA:2108
Warburg Micro Syndrome 4
Long philtrum, Microphthalmia, Narrow mouth, Decreased testicular size, Small scrotum, Cryptorchi... OMIM:615663
Joubert Syndrome 14
Microphthalmia, Short philtrum, Renal cyst, Postaxial polydactyly, Cleft palate, Tented upper lip... OMIM:614424
Bile Acid Synthesis Defect, Congenital, 4
Prolonged prothrombin time, Hematochezia OMIM:214950
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia, Clinodactyly of the 5th finger OMIM:167730
Fetal Alcohol Syndrome
Microphthalmia, Non-midline cleft of the upper lip, Microdontia, Micrognathia, Cleft palate, Smoo... ORPHA:1915
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Sandal gap, High palate, Abnormality of the dentition, Camptodactyly of... ORPHA:251038
Solitary Median Maxillary Central Incisor
Microphthalmia, Solitary median maxillary central incisor, Anophthalmia, Prominent median palatal... OMIM:147250
Hallermann-Streiff Syndrome
Narrow palate, Thin vermilion border, Supernumerary tooth, High, narrow palate, Microphthalmia, S... OMIM:234100
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Acetabular dysplasia, Oligodontia, Mandibular prognathia, Short metacarpal, Broad... OMIM:201180
Adams-Oliver Syndrome 2
Short middle phalanx of finger, Absent distal phalanges, Micrognathia, Microphthalmia OMIM:614219
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Microphthalmia, Odontogenic keratocysts of the jaw, Ovarian fi... OMIM:109400
Warburg Micro Syndrome 2
Clinodactyly of the 5th toe, Microphthalmia, Clinodactyly of the 4th toe, Small scrotum, Overlapp... OMIM:614225
Bartsocas-Papas Syndrome 1
Microphthalmia, Ectopic kidney, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent th... OMIM:263650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Broad thumb, Long philtrum, Short 5th finger, Overlapping... ORPHA:508498
Noonan Syndrome
Bruising susceptibility, Abnormal bleeding, Abnormal platelet function ORPHA:648
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Hepatomegaly, Short long bone, Congenital hip dislocation, Renal agenesis, Asple... OMIM:306955
Trisomy 18
Narrow palate, Microphthalmia, Abnormal hip bone morphology, Non-midline cleft of the upper lip, ... ORPHA:3380
Rothmund-Thomson Syndrome, Type 2
Supernumerary tooth, Microphthalmia, Delayed eruption of teeth, Mandibular prognathia, High palat... OMIM:268400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Long p... OMIM:608670
Fanconi Anemia, Complementation Group N
Hypoplasia of the radius, Microphthalmia, Ectopic kidney, Unilateral renal agenesis, Pelvic kidne... OMIM:610832
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Post... ORPHA:2166
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Galloway-Mowat Syndrome 3
Microphthalmia, Glomerular sclerosis, Narrow mouth, High palate, Camptodactyly, Nephrotic syndrom... OMIM:617729
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Supernumerary tooth, Hepatomegaly, Horseshoe kidney, Short clavicles, Short rib... OMIM:617088
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Femoral bowing, Aplasia of the uterus, Broad thumb, Bilateral radial aplasi... OMIM:274000