Gene Summary

Name:
misshapen-like kinase 1 (zebrafish)
Synonyms:
Map4k6,  Misshapen/NIKs-related kinase,  MINK,  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
microphthalmia Mink1em1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Mink1em1(IMPC)Tcp HOM Early adult 0.00
small uterus 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
abnormal tooth morphology 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
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

97 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

27 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Excessive bleeding from superficial cuts, Impaired platelet aggregation OMIM:618462
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Glanzmann Thrombasthenia 2
Epistaxis, Impaired ADP-induced platelet aggregation, Bruising susceptibility, Impaired epinephri... OMIM:619267
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:173590
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Impaired ADP-induced platelet aggregat... OMIM:609821
Thrombocythemia 1
Thrombocytosis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet agg... OMIM:187950
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:273800
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:608404
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Ecchymosis... OMIM:614009
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia, Abnormal bleeding ORPHA:231393
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Impaired platelet aggregation, Purpura, Men... OMIM:173470
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Macrothrombocytopenia, Purpura, Menorrhagia, Giant platel... OMIM:231200
Bleeding Disorder, Platelet-Type, 16
Petechiae, Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant pla... OMIM:187800
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Menorrhagia, Prolonged bleeding time, Epistaxis OMIM:614201
Von Willebrand Disease
Abnormal platelet function, Abnormality of thrombocytes ORPHA:903
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Impaired platelet aggregati... OMIM:277480
Bleeding Disorder, Platelet-Type, 14
Bruising susceptibility, Prolonged bleeding time, Ecchymosis, Epistaxis OMIM:614158
Macrothrombocytopenia and progressive sensorineural deafness
Bruising susceptibility, Macrothrombocytopenia, Giant platelets, Thrombocytopenia, Abnormal bleed... OMIM:600208
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Impaired platelet aggregation, Menorrhagia, Intestinal bleeding, Joint h... OMIM:605735
Glanzmann Thrombasthenia
Bruising susceptibility, Spontaneous hematomas, Ecchymosis, Gastrointestinal hemorrhage, Purpura,... ORPHA:849
Quebec Platelet Disorder
Bruising susceptibility, Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint he... OMIM:601709
Factor V Deficiency
Bruising susceptibility, Menorrhagia, Abnormal bleeding, Prolonged prothrombin time, Prolonged bl... OMIM:227400
Gray Platelet Syndrome
Bruising susceptibility, Abnormal number of alpha granules, Menorrhagia, Impaired collagen-induce... OMIM:139090
Sebastian syndrome
Giant platelets, Prolonged bleeding time, Thrombocytopenia, Epistaxis OMIM:605249
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Bleeding Disorder, Platelet-Type, 21
Menorrhagia, Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Bruising susceptibility, Menorrhagia, Giant platelets, Thrombocytopenia, Abnormal bleeding, Prolo... OMIM:155100
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Bruising susceptibility, Impaired platelet aggregation, Abnormal dense granule content, Prolonged... OMIM:601399
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhage... OMIM:193400
Hermansky-Pudlak Syndrome 7
Epistaxis, Bruising susceptibility, Abnormal bleeding, Impaired platelet aggregation OMIM:614076
Hermansky-Pudlak Syndrome 3
Bruising susceptibility, Impaired platelet aggregation, Gingival bleeding, Spontaneous, recurrent... OMIM:614072
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding,... OMIM:613679
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding OMIM:185050
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding OMIM:188025
Bleeding Disorder, Platelet-Type, 17
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Ecchymosis, Absence of alpha gra... OMIM:187900
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Petechiae, Thrombocytopenia, Prolonged bleeding time, Epistaxis OMIM:314050
Slc35A1-Cdg
Giant platelets, Pulmonary hemorrhage, Thrombocytopenia, Abnormal platelet granules, Abnormal ble... ORPHA:238459
Hemophilia B
Delayed onset bleeding, Prolonged bleeding after dental extraction, Spontaneous, recurrent epista... ORPHA:98879
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Fechtner syndrome
Bruising susceptibility, Menorrhagia, Giant platelets, Thrombocytopenia, Abnormal bleeding, Prolo... OMIM:153640
Hermansky-Pudlak Syndrome 5
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Abnormal bleeding, Prolonged bleeding tim... OMIM:614074
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Impaired ADP-induced platelet aggregation, Ecchymosis, Abnormal platelet... OMIM:614075
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Petechiae, Impaired neutrophil chemotaxis, Reduced... OMIM:619374
Bernard-Soulier Syndrome
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Macrothrombocytopenia, Menorrhag... ORPHA:274
Gombo Syndrome
Brachydactyly, Clinodactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Mmep Syndrome
Cryptorchidism, Triphalangeal thumb, Microphthalmia, Mandibular prognathia, Oral cleft, Split foo... ORPHA:3434
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Myh9-Related Disease
Bruising susceptibility, Menorrhagia, Giant platelets, Spontaneous, recurrent epistaxis, Prolonge... ORPHA:182050
Faciothoracogenital Syndrome
Glandular hypospadias, Long philtrum, Prominent scrotal raphe, Shawl scrotum, Micrognathia, Micro... OMIM:227320
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Cleft upper lip, Azoospermia, Abnormal... OMIM:601076
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Median cleft palate OMIM:248110
Hermansky-Pudlak Syndrome 11
Bruising susceptibility, Menorrhagia, Gingival bleeding, Impaired collagen-induced platelet aggre... OMIM:619172
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Impaired platelet aggregation, Menorrhagia, Gingival bleeding, Abnormal ... OMIM:614077
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... ORPHA:325
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Thrombocytopenia, Impaired platelet aggregation, Abnormal platelet morphology OMIM:300835
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Cleft palate, Micrognathia OMIM:616570
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Abnormal platelet morphology ORPHA:3318
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Fibular hypoplasia, Metaphyseal spurs, Cone-shaped epiphysis, Hamartoma of tongu... OMIM:613091
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Microphthalmia, Isolated 4
Microphthalmia, Absent testis, Postaxial polydactyly OMIM:613094
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Wolfram Syndrome 2
Decreased circulating antibody level, Abnormal bleeding, Impaired collagen-induced platelet aggre... OMIM:604928
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Micrognathia, Microphthalmia, Retrognathia, Bicornuate uterus OMIM:615524
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Factor X Deficiency
Menorrhagia, Gingival bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial hemorr... OMIM:227600
Sitosterolemia 1
Giant platelets, Abnormal bleeding, Impaired platelet aggregation OMIM:210250
Endocrine-Cerebroosteodysplasia
Brachydactyly, Enlarged kidney, Small scrotum, Cleft upper lip, Micropenis, Sandal gap, Preaxial ... OMIM:612651
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Nanophthalmos 4
Microphthalmia OMIM:615972
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, High palate, Microphthalmia, Retrognathia, Hypogonadism ORPHA:2528
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Abnormality of the den... ORPHA:2501
Microphthalmia, Syndromic 8
Cleft upper lip, Cryptorchidism, Microphthalmia, Widely-spaced maxillary central incisors, Mandib... OMIM:601349
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate, Hepatomegaly ORPHA:2432
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormal oral mucosa morph... ORPHA:85445
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Supernumerary ribs, Micrognathia, Microphthalmia, Cleft palate OMIM:221950
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Pulmonary hemorrhage, Thrombocytopenia, Decreased platelet glycoprotein Ib... OMIM:603585
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Dental Ankylosis
Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel morphology, Mandibular pro... ORPHA:1077
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Congenital Factor X Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Epistaxis, Gastrointestinal hemorrhag... ORPHA:328
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cleft upper lip, Cleft palate, Hematuria OMIM:120433
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Bone marrow hypocellularity, Thrombocytopenia, Prolonged bleeding time, ... ORPHA:3226
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Oral cleft OMIM:611638
Dentinogenesis Imperfecta
Finger joint hypermobility, Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental roo... ORPHA:49042
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Penoscrotal hypospadias, Sex reversal, Ambiguous genitalia, Exaggerated... OMIM:612965
Cat-Eye Syndrome
Hydronephrosis, Abnormal rib morphology, Microphthalmia, Abnormal localization of kidney, Renal h... ORPHA:195
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Symphalangism affecting the phalanges of the hand, Hypoplasia of penis, Abnormality of the upper ... ORPHA:2547
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Seckel Syndrome 2
Ectopic kidney, Clinodactyly of the 5th finger, Microdontia, Micrognathia, Microphthalmia, Microg... OMIM:606744
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Preaxial polydactyly, Microphthalmia, Hypospadias, Hypogonadism ORPHA:141333
Kennerknecht Syndrome
Renal agenesis, Toe syndactyly, High palate, Toe clinodactyly, Hypodontia, Hypoplasia of the uter... OMIM:600908
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Absent radius, Hydronephrosis, Hand polydactyly, Proximal placement of thumb, Sh... OMIM:314390
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:35909
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Satoyoshi Syndrome
Genu varum, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Abnormality of the... ORPHA:3130
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Polydactyly, Microphthalmia, Postaxial hand polydactyly, Hyperecho... OMIM:613885
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Short philtrum, Abnormal oral frenulu... ORPHA:1617
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Asplenia, Femoral bowing OMIM:615415
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage ORPHA:90308
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short philtrum, Abnormality of epiphysis morphology, Abnormal rib morph... ORPHA:93267
46,Xy Sex Reversal 4
High palate, Hypoplastic labia majora, Long philtrum, Hydronephrosis, Agonadism, Micrognathia, Re... OMIM:154230
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Pycnodysostosis
Brachydactyly, Abnormality of pelvic girdle bone morphology, Persistence of primary teeth, Osteol... OMIM:265800
Pierpont Syndrome
Cryptorchidism, Everted lower lip vermilion, Widely spaced teeth, Microphthalmia, Malar flattenin... ORPHA:487825
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Azoospermia, Hypoplasia of the uterus,... OMIM:614837
Pierpont Syndrome
Short palm, Micropenis, Cryptorchidism, Everted lower lip vermilion, Widely spaced teeth, Long up... OMIM:602342
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Tubulointer... OMIM:263200
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Missing ribs, Nephrogenic rest, Hammertoe, Micrognathia,... OMIM:608022
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Autoerythrocyte Sensitization Syndrome
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Ecchymosis, Oral cavity bleeding... ORPHA:324636
Hermansky-Pudlak Syndrome 1
Hematochezia, Bruising susceptibility, Ecchymosis, Gingival bleeding, Prolonged bleeding time, Ep... OMIM:203300
Mucopolysaccharidosis-Plus Syndrome
Clubbing, Enlarged kidney, Nephrotic syndrome, Bone marrow hypocellularity, Flared iliac wing, Pr... OMIM:617303
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Microphthalmia, Syndromic 9
Hypoplastic spleen, Anophthalmia, Horseshoe kidney, Renal malrotation, Cryptorchidism, Hydronephr... OMIM:601186
Kaposiform Lymphangiomatosis
Fractures of the long bones, Enlarged kidney, Abnormal pelvis bone morphology, Hepatosplenomegaly... ORPHA:464329
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Diethylstilbestrol Syndrome
Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Gracile Bone Dysplasia
Brachydactyly, Hypoplastic spleen, Micropenis, Thin ribs, Flared metaphysis, Microphthalmia, Anir... OMIM:602361
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia, Abnormal morphology of the radius, Narrow mouth ORPHA:3469
Premature Ovarian Failure 7
Hypoplasia of the uterus, Premature ovarian insufficiency, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Trisomy 13
Anophthalmia, Abnormality of pelvic girdle bone morphology, Abnormality of the ureter, Long philt... ORPHA:3378
Müllerian Aplasia And Hyperandrogenism
Brachydactyly, Short philtrum, Renal agenesis, Abnormality of the ovary, Abnormal vagina morpholo... ORPHA:247768
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Micrognat... OMIM:129540
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Reduced natural killer cell activity, Absent platelet ... OMIM:608233
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Foot polydactyly, Hydrocele testis, 2-4 toe syndactyly, Macrodactyly, Nephroblas... ORPHA:276280
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Rubinstein-Taybi Syndrome 2
High palate, Carious teeth, Broad hallux, Micrognathia, Increased overbite, Retrognathia, Broad t... OMIM:613684
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, 2-4 toe cutaneous syndactyly, Long philtrum, Delayed eruption of teeth, 4-5 finger ... OMIM:257850
Temtamy Syndrome
Brachydactyly, Genu varum, Abnormal palate morphology, Clinodactyly of the 5th finger, Thick lowe... ORPHA:1777
Cousin Syndrome
Clinodactyly of the 5th finger, Hydronephrosis, Micrognathia, Hypoplastic iliac wing, Cleft palat... OMIM:260660
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Renal hypoplasia, Optic nerve hypoplasia, Hyperechogenic kidneys OMIM:617914
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Moebius Syndrome
Brachydactyly, Clinodactyly, High palate, Abnormality of pelvic girdle bone morphology, Bifid uvu... OMIM:157900
Microphthalmia With Limb Anomalies
Toe syndactyly, High palate, Anophthalmia, Cleft upper lip, Hand oligodactyly, Postaxial foot pol... OMIM:206920
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Cofs Syndrome
Everted lower lip vermilion, Micrognathia, Microphthalmia, Camptodactyly of finger, Hypogonadism ORPHA:1466
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Matthew-Wood Syndrome
Anophthalmia, Horseshoe kidney, Cryptorchidism, Renal hypoplasia, Abnormal spleen morphology, Abn... ORPHA:2470
Nanophthalmos
Microphthalmia ORPHA:35612
Bresek Syndrome
Cryptorchidism, Renal hypoplasia, Optic nerve hypoplasia, Microphthalmia, Renal dysplasia, Postax... ORPHA:85284
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Long philtrum, Second metatarsal posteriorly placed, Rocker bottom foot, Micrognathia... OMIM:214150
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Short palm, Thin ribs, Metaphyseal chondrodysplasia, Micrognathia, Microphthalmia... ORPHA:163966
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Enlarged kidney, Long toe, Ureteral duplication, Hydronephrosis, Tapered finger, Hep... OMIM:608836
H Syndrome
Enlarged kidney, Hepatosplenomegaly, Cleft upper lip, Micropenis, Azoospermia, Abnormality of the... ORPHA:168569
Macs Syndrome
Bruising susceptibility, Prolonged bleeding time OMIM:613075
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Gingival bleeding, Abnormal del... OMIM:600903
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Renal cyst, Short ribs, Renal hypoplasia, Preaxial polydactyly, Squared iliac bo... OMIM:616300
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... ORPHA:730
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Clinodactyly of the 5th finger, Micrognathia, Tibial torsion, Aplasia/Hypoplasia of t... ORPHA:3320
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Hypoplasia of the ovary, Hypoplasia of... OMIM:614841
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Microphthalmia, Syndactyly OMIM:610023
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Micrognathia OMIM:616171
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Oral ulcer, Genital ulcers, Aplasia of the thymus, Lymph node hypoplasia OMIM:602450
Meckel Syndrome, Type 5
Bowing of the long bones, Cleft upper lip, Postaxial foot polydactyly, Microphthalmia, Postaxial ... OMIM:611561
Fanconi Anemia, Complementation Group S
Clinodactyly, Thick upper lip vermilion, Ovarian neoplasm, Microphthalmia, Proximal placement of ... OMIM:617883
Warburg Micro Syndrome 1
Narrow mouth, Cryptorchidism, Micrognathia, External genital hypoplasia, Microphthalmia, Thin ver... OMIM:600118
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Hypogonadotropic hypogonadism, Microphthalmia, Tooth agenesis, Cleft palate ORPHA:1135
Satoyoshi Syndrome
Brachydactyly, Short metacarpal, Osteolytic defects of the phalanges of the hand, Genu valgum, Hy... OMIM:600705
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Abnormal palate morphology, 2-3 toe syndactyly, Hammer... ORPHA:2712
Joubert Syndrome 22
Postaxial foot polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Microphthalmia, Postaxial hand ... OMIM:615665
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Coffin-Siris Syndrome 9
Clinodactyly, High palate, Short philtrum, Delayed eruption of teeth, Renal malrotation, Open mou... OMIM:615866
Hydrolethalus
Anophthalmia, Bifid uvula, Cryptorchidism, Unilateral cleft lip, Micrognathia, Microphthalmia, Su... ORPHA:2189
Mgat2-Cdg
Decreased circulating IgG level, Abnormal bleeding, Decreased circulating antibody level, Impaire... ORPHA:79329
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Congenital hip dislocation, Microphthalmia, Cleft palate OMIM:164180
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Eem Syndrome
Finger syndactyly, Microdontia, Widely spaced teeth, Carious teeth, Ectrodactyly, Abnormality of ... ORPHA:1897
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Hypoplastic frontal sinuses, Median cleft palate, Microphthalmia, Hy... OMIM:136760
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Macroscopic hematuria, Abnormal dental enamel morphology, Membranop... ORPHA:251004
Fanconi Anemia, Complementation Group J
Microphthalmia, Short thumb, Bone marrow hypocellularity OMIM:609054
Skin Creases, Congenital Symmetric Circumferential, 2
Narrow mouth, Small scrotum, Short palm, Cryptorchidism, Tapered finger, Microdontia, Carious tee... OMIM:616734
Nance-Horan Syndrome
Short metacarpal, Supernumerary tooth, Microphthalmia, Mandibular prognathia, Abnormality of the ... ORPHA:627
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Clinodactyly, Enamel hypoplasia, Conical tooth, Sandal gap, Oligodontia, 3-4 toe s... OMIM:618727
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Hip dislocation OMIM:608763
Craniometadiaphyseal Dysplasia
Genu varum, Absent paranasal sinuses, High palate, Coxa valga, Abnormally large globe, Microdonti... OMIM:269300
Ring Chromosome 10 Syndrome
Long philtrum, Sandal gap, Tapered finger, Micrognathia, Microphthalmia, Renal hypoplasia/aplasia... ORPHA:1438
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Small scrotum, Cleft upper lip, Fibrous syngnathia, Hypoplasia of the v... OMIM:119500
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Brachydactyly, 2-3 toe syndactyly, Sandal gap, Renal hypoplasia, Joint contracture of the 5th fin... OMIM:618914
Sternum, Premature Obliteration Of Sutures Of
Cryptorchidism, Micrognathia, Short sternum OMIM:184800
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Rocker bottom foot, Micropenis, Micrognathia, Microphthalmia, Camptodactyly of finger OMIM:610756
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu varum, Coxa valga, Carious teeth, Hyperphosphaturia, Hypoplasia of teeth, Medullary nephroca... OMIM:613312
Tetraamelia-Multiple Malformations Syndrome
Narrow mouth, Missing ribs, Septo-optic dysplasia, Cryptorchidism, Aplasia/Hypoplasia involving t... ORPHA:3301
Developmental Delay With Variable Neurologic And Brain Abnormalities
Widely spaced teeth, Microdontia, Down-sloping shoulders, Micrognathia, Microphthalmia, Camptodac... OMIM:619694
Wiskott-Aldrich Syndrome
Hematochezia, Bruising susceptibility, Petechiae, Abnormal platelet function, Abnormal platelet m... ORPHA:906
Alg9-Cdg
Enlarged kidney, Ureteral hypoplasia, Bifid uvula, Long philtrum, Hydronephrosis, Broad ischia, H... ORPHA:79328
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Seckel Syndrome 7
Hypoplasia of the uterus, Clinodactyly, Hip dysplasia OMIM:614851
Premature Ovarian Failure 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:612310
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Micropenis, Cryptorchidism, Azoospermia, Non-... ORPHA:432
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Ovotestis, Hypoplasia of the vagina, Micropenis, Azoospermia... OMIM:278850
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, 11 pairs of ribs, Thin ribs, Metaphyseal cupping, Micr... OMIM:300863
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Horseshoe kidney, Renal hypoplasia, Micrognathia, Anteriorly displaced ure... OMIM:266810
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Micropenis, Gingival bleeding, Microphthalmia, Right v... ORPHA:335
Testicular Agenesis
Absent testis, Micropenis, Absent external genitalia, Abnormal vas deferens morphology, Urethrova... ORPHA:325124
Amed Syndrome, Digenic
Hypoplasia of the uterus, Bone marrow hypocellularity, Long thumb OMIM:619151
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos, Vaginal fistula OMIM:619318
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Epididymal cyst, Multiple glomerular cysts, De... OMIM:137920
Microphthalmia, Syndromic 13
Microphthalmia, Diastema OMIM:300915
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Micrognathia, Microphthalmia, Malar prominence, Camptodactyly of f... ORPHA:48431
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Microdontia, Widely spaced teeth, Hypoplasia of teeth... ORPHA:2728
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, As... OMIM:208540
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Meckel Syndrome, Type 2
Bowing of the long bones, Renal cyst, Polydactyly, Microphthalmia, Postaxial hand polydactyly, Cl... OMIM:603194
Igg4-Related Kidney Disease
Proteinuria, Hydronephrosis, Prostatitis, Membranous nephropathy, Renal interstitial immunoglobul... ORPHA:449395
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Nephroblastoma, Smooth philtrum, Syndactyly OMIM:602501
Perrault Syndrome 4
Premature ovarian insufficiency, Bicornuate uterus, Hypoplasia of the uterus, Cleft palate, Hypop... OMIM:615300
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria OMIM:274270
Microphthalmia, Lenz Type
Finger syndactyly, Delayed eruption of teeth, Renal hypoplasia/aplasia, Abnormality of the dentit... ORPHA:568
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Clinodactyly of the 5th finger, Congenital hip dislocation, Hypoplastic s... OMIM:169550
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, 2-5 finger cutaneous syndactyly, Micrognathia, Absent distal phalanges, ... OMIM:619339
Congenital Toxoplasmosis
Microphthalmia, Cardiomegaly, Hepatomegaly, Lymphadenopathy ORPHA:858
Nance-Horan Syndrome
Supernumerary maxillary incisor, Mulberry molar, Short phalanx of finger, Screwdriver-shaped inci... OMIM:302350
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Petechiae, Purpura, Increased circulating IgA level, Gingival bl... OMIM:301000
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Carious teeth, Hypospadias, Short palm OMIM:101805
Mixed Connective Tissue Disease
Purpura, Prolonged bleeding time, Gastrointestinal hemorrhage ORPHA:809
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Flattened epiphysis, High palate, Coxa valga, Long philtrum, Oligosacchariduria, ... ORPHA:163649
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Short greater sciatic notch, Cryptorchidism, Hydronephrosis, Ma... OMIM:312870
Monosomy 18P
Brachydactyly, Short philtrum, Hypodontia, Carious teeth, Micrognathia, Microphthalmia, Downturne... ORPHA:1598
Hartsfield Syndrome
Non-midline cleft lip, Microphthalmia, Split hand, Cleft palate, Aplasia/Hypoplasia of the radius ORPHA:2117
Baraitser-Winter Syndrome 2
Long philtrum, Microphthalmia, Retrognathia, Oral cleft, Thin upper lip vermilion, Wide mouth OMIM:614583
Joubert Syndrome 37
High palate, Micropenis, Hydronephrosis, Cryptorchidism, Hepatomegaly, Microphthalmia, Postaxial ... OMIM:619185
Martsolf Syndrome 1
High palate, Short philtrum, Hypogonadotropic hypogonadism, Short palm, Short metacarpal, Micrope... OMIM:212720
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Cryptorchidism, Micrognathia, Hypoplastic iliac wing, Short toe, Hand monodac... OMIM:609945
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Syndromic 11
Microphthalmia, Cleft upper lip, Cleft palate OMIM:614402
Lymphoid Interstitial Pneumonia
Clubbing, Mediastinal lymphadenopathy, Hepatomegaly, Enlarged kidney ORPHA:79128
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Dental malocclusion, Premature ovarian insufficiency, Horseshoe kidney... ORPHA:363444
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Tapered finger, Short thumb, Tented upper lip vermilion, Micrognathia, Left ventr... OMIM:619148
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Fanconi Anemia, Complementation Group G
Microphthalmia, Abnormal thumb morphology OMIM:614082
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Absent proximal finger flexion creases, Aplasia/Hypop... ORPHA:2839
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Cryptorchidism, Pancrea... OMIM:130650
Chromosome 17Q12 Duplication Syndrome
Brachydactyly, Cleft soft palate, Micrognathia, Microphthalmia, Smooth philtrum, Broad thumb OMIM:614526
Mosaic Trisomy 9
High palate, Supernumerary ribs, Horseshoe kidney, Rocker bottom foot, Hydronephrosis, Cryptorchi... ORPHA:99776
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Joubert Syndrome 14
Short philtrum, Renal cyst, Open mouth, Tented upper lip vermilion, Microphthalmia, Malar flatten... OMIM:614424
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Bilateral cleft lip and palate, Hematuria ORPHA:1473
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Long philtrum, Hypoplasia of the premaxilla, Fibular hypoplasia, Crypt... ORPHA:1106
Marden-Walker Syndrome
Narrow mouth, High palate, Long philtrum, Micropenis, Renal hypoplasia, Cryptorchidism, Micrognat... OMIM:248700
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Abnormal ri... ORPHA:1452
Acquired Purpura Fulminans
Macular purpura, Thrombocytopenia, Prolonged prothrombin time, Intracranial hemorrhage, Internal ... ORPHA:49566
Mosaic Trisomy 1
Renal cortical cysts, Absent distal interphalangeal creases, Cleft palate, 2-3 finger syndactyly,... ORPHA:1692
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Postaxial hand polydactyly, Polysplenia OMIM:200995
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Renal hypoplasia, Hepatomegaly, Microphthalmia, Ketonuria OMIM:619053
3P25.3 Microdeletion Syndrome
Congenital pseudoarthrosis of the clavicle, Short philtrum, Tapered finger, Deep philtrum, Broad ... ORPHA:435638
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232220
Pallister-Hall Syndrome
Cryptorchidism, Hydronephrosis, Renal dysplasia, Mesoaxial foot polydactyly, Cleft palate, Rib fu... OMIM:146510
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal thumb morphology, Enlarged kidney, Bifid ureter, Renal malrotation, Tibial bowing, Metat... ORPHA:500095
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cryptorchidism, Hypogonadism, External genital hypoplasia ORPHA:363741
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Nephrocalcinosis, Nephrolithiasis, Polycystic ovaries, Proteinuria, Periodontiti... ORPHA:79259
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Meacham Syndrome
Enlarged kidney, Horseshoe kidney, Septate vagina, Accessory spleen, Male pseudohermaphroditism, ... OMIM:608978
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cleft upper lip, Cleft palate, Cryptorchidism OMIM:612530
Microgastria-Limb Reduction Defect Syndrome
Short thumb, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the humerus, Renal age... ORPHA:2538
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Postaxial foot polydactyly, 2-3 toe syndactyly, Long philtrum, Cryptorchidism, Abnor... ORPHA:404440
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Nephrocalcinosis, Nephrotic syndrome, Septate vagina, Hematuria, Proteinur... OMIM:146255
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Ureteral atresia, Cryptorchidism, Hydronephrosis, Micrognathia, Ovaria... OMIM:614527
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Oral cleft ORPHA:324416
Baraitser-Winter Syndrome 1
Cleft upper lip, Long philtrum, Micropenis, Cryptorchidism, Duplication of phalanx of hallux, Mic... OMIM:243310
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Shortening of all distal phalanges of the fingers, Cryptorchidism, Epiphy... OMIM:619135
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Hypoplastic pubic bone, Short long bone, Septate vagina, Fibular hypoplasia, Sho... OMIM:617925
Warburg Micro Syndrome 3
Small scrotum, Micropenis, Clinodactyly of the 5th finger, Hypoplastic labia minora, Micrognathia... OMIM:614222
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Crumpled long bones, Microphthalmia, Abnormal femoral neck/h... ORPHA:2788
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Congenital Rubella Syndrome
Splenomegaly, Hepatomegaly, Microphthalmia, Aplasia/Hypoplasia of the iris, Abnormality of the me... ORPHA:290
Fanconi Anemia, Complementation Group L
Absent thumb, Bone marrow hypocellularity, Micropenis, Renal hypoplasia, Microphthalmia, Cleft pa... OMIM:614083
Papillorenal Syndrome
Renal cyst, Horseshoe kidney, Nephrolithiasis, Renal malrotation, Proteinuria, Renal hypoplasia, ... OMIM:120330
Fanconi Anemia, Complementation Group I
Absent thumb, Horseshoe kidney, Bone marrow hypocellularity, Renal hypoplasia, Optic nerve hypopl... OMIM:609053
17Q12 Microduplication Syndrome
Microphthalmia, Toe syndactyly, Finger syndactyly, Cleft palate ORPHA:261272
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Splenomegaly, He... OMIM:276700
Isolated Optic Nerve Hypoplasia/Aplasia
Unilateral microphthalmos, Optic nerve hypoplasia, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Thin ribs, Optic nerve hypoplasia, Narrow mouth OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Chédiak-Higashi Syndrome
Bruising susceptibility, Abnormal platelet function, Gingival bleeding, Increased proportion of C... ORPHA:167
Enamel-Renal Syndrome
Amelogenesis imperfecta, Nephrocalcinosis, Delayed eruption of teeth, Enuresis, Yellow-brown disc... ORPHA:1031
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Postaxial foot polydactyly, Enamel hypoplasia, Crossed fuse... ORPHA:2919
Microcephaly-Micromelia Syndrome
Narrow mouth, Absent radius, Oligodactyly, Abnormal rib morphology, Micrognathia, Microphthalmia,... OMIM:251230
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Hepatosplenomegaly, Bone marrow hypocellularity, Nephrotic syndrome, Proteinuria... ORPHA:505248
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Microphthalmia, Recurrent urinary tract infections, Camptoda... OMIM:611961
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, High palate, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:110100
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Unilateral microphthalmos, Enamel hypoplasia, Adducted thumb, Malar flattening, Bila... OMIM:618874
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal hip bone morphology, Cryptorchidism, Sandal gap, Clino... ORPHA:193
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
8Q21.11 Microdeletion Syndrome
Narrow mouth, High palate, Short philtrum, Finger syndactyly, Abnormality of the dentition, Crypt... ORPHA:284160
Microphthalmia With Brain And Digit Anomalies
High palate, Anophthalmia, Finger syndactyly, Postaxial foot polydactyly, Cryptorchidism, Microph... ORPHA:139471
Momo Syndrome
Congenital pseudoarthrosis of the clavicle, High palate, Long philtrum, Delayed eruption of teeth... ORPHA:2563
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232200
Focal Dermal Hypoplasia
Open bite, Hydronephrosis, Multicystic kidney dysplasia, Coarse metaphyseal trabecularization, Ab... ORPHA:2092
Beaulieu-Boycott-Innes Syndrome
Renal agenesis, Horseshoe kidney, Carious teeth, Recurrent urinary tract infections, Dental maloc... OMIM:613680
Pseudotrisomy 13 Syndrome
Renal agenesis, Cleft upper lip, Postaxial foot polydactyly, 2-3 toe syndactyly, Micropenis, 11 p... OMIM:264480
Meckel Syndrome, Type 1
Clinodactyly, Foot polydactyly, Accessory spleen, Cryptorchidism, Micrognathia, Polycystic kidney... OMIM:249000
Fryns Syndrome
High palate, Long philtrum, Non-midline cleft lip, Cryptorchidism, Clinodactyly of the 5th finger... ORPHA:2059
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Bilateral cryptorchidism, Smooth philtrum, Cardiomegaly, Downturned corners of mouth OMIM:618652
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Conical tooth, Cryptorchidism, Microphthalmia, Broad philtrum, Abnormality of the ... ORPHA:228390
Cerebrooculofacioskeletal Syndrome 4
Short philtrum, Dislocated radial head, Rocker bottom foot, Steep acetabular roof, Micrognathia, ... OMIM:610758
Oculodentodigital Dysplasia
Broad alveolar ridges, Clinodactyly, Cleft upper lip, Enamel hypoplasia, 4-5 finger syndactyly, 3... OMIM:164200
Teebi-Shaltout Syndrome
Narrow mouth, Ureteral stenosis, Horseshoe kidney, Rocker bottom foot, Hydronephrosis, Caudal app... OMIM:272950
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cryptorchidism, Hypogonadism OMIM:601794
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Nephrocalcinosis, Polyuria, Enuresis, Delayed eruption of permanent teet... OMIM:204690
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Bowing of the legs, Brachydactyly, Bowing of the long bones, Metaphyseal irregularit... ORPHA:85167
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Pierre-Robin sequence, Cleft mandibl... ORPHA:364577
Acro-Renal-Ocular Syndrome
Abnormal thumb morphology, Renal malrotation, Radial club hand, Sandal gap, Short thumb, Short di... ORPHA:959
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Beckwith-Wiedemann Syndrome
Enlarged kidney, Multiple renal cysts, Nephrolithiasis, Ureteral duplication, Hypercalciuria, Cry... ORPHA:116
Tetraamelia Syndrome 1
Renal agenesis, Cleft upper lip, Vaginal atresia, Micrognathia, Microphthalmia, Absent external g... OMIM:273395
Basel-Vanagaite-Smirin-Yosef Syndrome
Clinodactyly, Hydronephrosis, Everted lower lip vermilion, Tented upper lip vermilion, Exaggerate... ORPHA:464738
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Anophthalmia, Cryptorchidism, Failure of eruption of permanent teeth, Hypoplasia of ... ORPHA:2250
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Broad toe, Short upper lip, Short palm, Short phalanx of finger, Microphthalmia, Hy... OMIM:271960
Roberts Syndrome
Cryptorchidism, Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Polycystic kidney dyspl... ORPHA:3103
Treacher-Collins Syndrome
Open bite, Cryptorchidism, Micrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Hypoplas... ORPHA:861
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Long philtrum, Cryptorchidism, Hypospadias, Micrognathia, Microphthalmia, Cleft pa... ORPHA:2505
2Q31.1 Microdeletion Syndrome
Abnormality of the ulna, Long philtrum, Cryptorchidism, Sandal gap, Clinodactyly of the 5th finge... ORPHA:251014
Kapur-Toriello Syndrome
Hypoplastic labia majora, Cleft upper lip, Micropenis, Overlapping fingers, Cryptorchidism, Short... OMIM:244300
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Ac... ORPHA:731
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Cryptorchidism, 11 pairs of ribs, Hypoplasia of penis, Microphthalmia, Hypospadias ORPHA:77298
Micro Syndrome
High palate, Short philtrum, Cryptorchidism, Hydronephrosis, Clitoral hypoplasia, Hypoplastic lab... ORPHA:2510
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Micropenis, Cryptorchi... ORPHA:755
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Microphthalmia, Microdontia, Micrognathia ORPHA:3191
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Hypoplasia of the ulna, Absent radius, Clinodactyly of the 5th finger, Micrognathia, Microphthalm... OMIM:600123
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
3Q29 Microdeletion Syndrome
High palate, Short philtrum, Horseshoe kidney, Clinodactyly of the 5th finger, Tapered finger, Ev... ORPHA:65286
Fanconi Anemia, Complementation Group F
Absent thumb, Bone marrow hypocellularity, Cryptorchidism, Renal hypoplasia, Hypoplasia of the ra... OMIM:603467
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Sandestig-Stefanova Syndrome
Clinodactyly, High palate, Rocker bottom foot, Microphthalmia, Retrognathia, Oral cleft, Camptoda... OMIM:618804
Meckel Syndrome
Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Anophthalmia, Postaxial foot polydact... ORPHA:564
Bosma Arhinia Microphthalmia Syndrome
High palate, Hypoplastic labia majora, Hypogonadotropic hypogonadism, Paranasal sinus hypoplasia,... OMIM:603457
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal hemorrhage, Subcutane... ORPHA:99147
Microphthalmia, Syndromic 5
Anophthalmia, Micropenis, Cryptorchidism, Optic nerve hypoplasia, Microphthalmia, Cleft palate OMIM:610125
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Brachydactyly, Horizontal ribs, Accessory oral frenulum, Horseshoe kidney, Short ribs, Hypodontia... OMIM:617088
Fanconi Anemia, Complementation Group E
Absent thumb, Renal agenesis, Ectopic kidney, Horseshoe kidney, Absent radius, Cryptorchidism, Sh... OMIM:600901
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, High palate, Tented upper lip vermilion, Long philtrum OMIM:614105
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Postaxial foot polydactyly, Short sternum, Microdontia, Supernumerar... OMIM:258850
Duane-Radial Ray Syndrome
Absent thumb, Renal agenesis, Hypoplasia of the ulna, Horseshoe kidney, Absent radius, Renal malr... OMIM:607323
Noonan Syndrome
Abnormal platelet function, Abnormal bleeding ORPHA:648
Holoprosencephaly 9
Short philtrum, Dental malocclusion, Anophthalmia, Cleft upper lip, Solitary median maxillary cen... OMIM:610829
Dysosteosclerosis
Narrow iliac wing, Absent paranasal sinuses, High palate, Progressive bowing of long bones, Delay... OMIM:224300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Deep philtrum, Cleft lip, Microphthalmia, Renal dysplasia, Microretrognathia, Clef... OMIM:618571
Peters-Plus Syndrome
Long philtrum, Cryptorchidism, Clinodactyly of the 5th finger, Hydronephrosis, Widely spaced teet... OMIM:261540
Meckel Syndrome, Type 4
Bowing of the long bones, Renal cyst, Microphthalmia, Postaxial hand polydactyly, Cleft palate OMIM:611134
Adams-Oliver Syndrome 2
Microphthalmia, Micrognathia OMIM:614219
Refsum Disease
Abnormality of epiphysis morphology, Hammertoe, Short metacarpal, Splenomegaly, Microphthalmia, R... ORPHA:773
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Hypercalciuria, Hepatomegaly, Enlarged ovaries, Long penis, La... ORPHA:508
46,Xy Sex Reversal 11
Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, Urogenital sinus anomaly, G... OMIM:273250
Steinfeld Syndrome
Hypoplasia of the ulna, Missing ribs, Phocomelia, Bifid uvula, Aplasia/Hypoplasia of the thumb, H... OMIM:184705
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Fanconi Anemia, Complementation Group A
Absent thumb, Renal agenesis, Ectopic kidney, Horseshoe kidney, Absent radius, Cryptorchidism, Sh... OMIM:227650
Hallermann-Streiff Syndrome
Narrow mouth, Short ribs, Clinodactyly of the 5th finger, Cryptorchidism, Supernumerary tooth, Ab... ORPHA:2108
Myoclonic-Astatic Epilepsy
Long philtrum, Thick lower lip vermilion, Microphthalmia, Wide mouth, Broad philtrum, Thin upper ... ORPHA:1942
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Cleft upper lip, Optic nerve hypoplasia, High, narrow palat... OMIM:607597
Cog8-Cdg
Prolonged prothrombin time, Spontaneous hematomas ORPHA:95428
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Asymmetry of the mouth, Absent distal phalange... OMIM:186500
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Micropenis, Microphthalmia, Hypoplasia of the uterus, Hypospadias, Clitoral h... OMIM:309801
Oculocerebrorenal Syndrome Of Lowe
Long philtrum, Open bite, Proteinuria, Cryptorchidism, Everted lower lip vermilion, Abnormal rib ... ORPHA:534
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Hypoplasia of the maxilla OMIM:167730
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Ambiguous genitalia, female, Long penis, Precocious puberty in males, H... OMIM:202010
Renal Dysplasia-Limb Defects Syndrome
Narrow mouth, High palate, Phocomelia, Short sternum, Short ribs, Short metacarpal, Thin ribs, Re... OMIM:266910
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Long philtrum, Thick lower lip vermilion, Deep philtrum, Microphthalmia, Mandibular prognathia, T... OMIM:152950
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Micrognathia, Microphthalmia, Vesicoureteral reflux, Hip dysplasia, Hypospadias ORPHA:494344
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of th... OMIM:158330
Cat Eye Syndrome
Renal agenesis, Absent radius, Micrognathia, Microphthalmia, Cleft palate OMIM:115470
Yunis-Varon Syndrome
Abnormal pelvis bone morphology, Cryptorchidism, Abnormality of dental structure, Tapered finger,... ORPHA:3472
Curry-Jones Syndrome
Toe syndactyly, Foot polydactyly, Finger syndactyly, Microphthalmia, Preaxial hand polydactyly, B... ORPHA:1553
Fryns Syndrome
Long philtrum, Cryptorchidism, Hydronephrosis, Short thumb, Tented upper lip vermilion, Cleft pal... OMIM:229850
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, High palate, Cryptorchidism, Open mouth, Widely spaced teeth, Macroglossia, Wide mo... ORPHA:369891
Solitary Median Maxillary Central Incisor
Solitary median maxillary central incisor, Anophthalmia, Cleft upper lip, Microphthalmia, Torus p... OMIM:147250
Stromme Syndrome
Accessory spleen, Hydronephrosis, Preaxial polydactyly, Optic nerve hypoplasia, Micrognathia, Mic... OMIM:243605
Trichothiodystrophy 3, Photosensitive
Carious teeth, Microphthalmia, Eclabion, Natal tooth, Bilateral cryptorchidism OMIM:616395
Vacterl With Hydrocephalus
Renal agenesis, Anophthalmia, Cryptorchidism, Hypoplasia of the radius, Micrognathia, Microphthal... ORPHA:3412
Warburg Micro Syndrome 4
Narrow mouth, Small scrotum, Long philtrum, Micropenis, Cryptorchidism, Microphthalmia, Decreased... OMIM:615663
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Ectopic kidney, Horseshoe kidney, Hypoplasia of... ORPHA:3109
Galloway-Mowat Syndrome 3
Narrow mouth, Diffuse mesangial sclerosis, High palate, Stage 5 chronic kidney disease, Glomerula... OMIM:617729
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Tibial torsion, Hip ... OMIM:274000
Fetal Alcohol Syndrome
Non-midline cleft lip, Microdontia, Micrognathia, Microphthalmia, Smooth philtrum, Thin upper lip... ORPHA:1915
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezoid bone, Pulp calcificat... OMIM:606895
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Polycystic ovaries, Micropenis, Cryptorchidism, Male pseudohermaphrodit... ORPHA:90796
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Dental malocclusion, Retrognathia OMIM:601552
Basal Cell Nevus Syndrome
Brachydactyly, Odontogenic keratocysts of the jaw, Supernumerary ribs, Cleft upper lip, Short dis... OMIM:109400
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
3Q29 Microduplication Syndrome
Toe syndactyly, High palate, Sandal gap, Deep philtrum, Microphthalmia, Aniridia, Camptodactyly o... ORPHA:251038
Warburg Micro Syndrome 2
Hypoplastic labia majora, Small scrotum, Micropenis, Cryptorchidism, Microphthalmia, Overlapping toe OMIM:614225
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the fal... OMIM:241080
Rothmund-Thomson Syndrome, Type 2
High palate, Agenesis of permanent teeth, Short palm, Delayed eruption of teeth, Cryptorchidism, ... OMIM:268400
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Micrognathia OMIM:617306
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Duplication of phalanx of hand, Clinodactyly of the 5th finger, Optic nerve hypopl... ORPHA:508498
Trisomy 18
Narrow mouth, Abnormal hip bone morphology, Deviation of finger, Non-midline cleft lip, Abnormal ... ORPHA:3380
Frontonasal Dysplasia 3
Microphthalmia, Cleft palate OMIM:613456
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Acrofrontofacionasal Dysostosis 1
Cleft upper lip, Short metacarpal, Oligodontia, Microphthalmia, Short distal phalanx of finger, M... OMIM:201180
Hallermann-Streiff Syndrome
Narrow mouth, High palate, Thin vermilion border, Slender long bone, Cryptorchidism, Thin ribs, E... OMIM:234100
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Long philtrum, Clinodactyly of the 5th finger, ... OMIM:608670
Leukocyte Adhesion Deficiency
Impaired neutrophil chemotaxis, Bone marrow hypocellularity, Impaired platelet aggregation, Throm... ORPHA:2968
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Focal Dermal Hypoplasia
Foot polydactyly, Cryptorchidism, Hydronephrosis, Cleft palate, Brachydactyly, Anophthalmia, Clef... OMIM:305600
Fraser Syndrome
Cryptorchidism, Vaginal atresia, Multicystic kidney dysplasia, Female pseudohermaphroditism, Ambi... ORPHA:2052
Townes-Brocks Syndrome
Cryptorchidism, Clinodactyly of the 5th finger, Abnormal rib morphology, Abnormality of the uteru... ORPHA:857
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Bifid uterus, Retrognathia, Cleft palate ORPHA:2736
Osteopetrosis, Autosomal Recessive 2
Diaphyseal sclerosis, Hepatosplenomegaly, Persistence of primary teeth, Carious teeth, Mandibular... OMIM:259710
Fanconi Anemia, Complementation Group C
Absent thumb, Renal agenesis, Ectopic kidney, Horseshoe kidney, Bone marrow hypocellularity, Abse... OMIM:227645
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Spondylo-Ocular Syndrome
Microphthalmia, Thin vermilion border, Aplasia/Hypoplasia of the lens, Long philtrum ORPHA:85194
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Absent radius, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th f... ORPHA:1352
Fanconi Anemia, Complementation Group D2
Absent thumb, Renal agenesis, Ectopic kidney, Horseshoe kidney, Bone marrow hypocellularity, Abse... OMIM:227646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Left ventricular hypertrophy OMIM:613153
Curry-Jones Syndrome
Microphthalmia, Duplication of thumb phalanx, Preaxial hand polydactyly, Broad thumb, Cutaneous s... OMIM:601707
Orofaciodigital Syndrome Type 2
Broad first metatarsal, Agenesis of central incisor, Micrognathia, Hamartoma of tongue, Short tib... ORPHA:2751
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, High palate, Foot polydactyly, Long philtrum, Cryptorchidis... ORPHA:250989
Bartsocas-Papas Syndrome 1
Short thumb, Micrognathia, Hypoplastic iliac wing, Bilateral cryptorchidism, Ambiguous genitalia,... OMIM:263650
Lumbar Syndrome
Renal agenesis, Hypoplastic labia majora, Renal duplication, Micropenis, Cryptorchidism, Bladder ... ORPHA:83628
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Hepatomegaly OMIM:618805
Kapur-Toriello Syndrome
Microphthalmia, Hypoplastic labia majora, Hypoplasia of penis, Oral cleft ORPHA:2328
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Missing ribs, Foot polydactyly, Phocomelia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thu... ORPHA:3186
Holoprosencephaly-Postaxial Polydactyly Syndrome
Narrow mouth, Hypoplasia of the premaxilla, Cryptorchidism, Hypoplasia of penis, Micrognathia, Mi... ORPHA:2166
Fanconi Anemia
Abnormality of the ulna, Abnormal thumb morphology, Cryptorchidism, Clinodactyly of the 5th finge... ORPHA:84
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Septate vagina, Hydronephrosis, Uterus didelphy... ORPHA:2237
Monosomy 9Q22.3
Narrow mouth, Odontogenic keratocysts of the jaw, Long philtrum, Delayed eruption of teeth, Abnor... ORPHA:77301
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Enlarged kidney, Horseshoe kidney, Congenital hip dislocation, Hepatomegaly, Aspl... OMIM:306955
Dubowitz Syndrome
High palate, Agenesis of permanent teeth, Delayed eruption of teeth, Hypoplasia of the iris, Velo... OMIM:223370
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Hypospadias, Precocious puberty OMIM:615877
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Clinodactyly, Renal cyst, Tapered finger, Carious teeth, Down-sloping shoulders, Microretrognathi... OMIM:615560
Phocomelia, Schinzel Type