Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

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

Gross Pathology and Tissue Collection


12 Images


XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

2 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

27 Images


XRay Images Skull Dorso Ventral Orientation

10 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
Matching phenotypes Source
Athrombia, Essential
Prolonged bleeding time, Abnormal bleeding, 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
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Subcutaneous hemorrhage OMIM:618462
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... OMIM:619130
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... OMIM:619267
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... OMIM:615888
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... OMIM:173590
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothromb... OMIM:124900
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Epistaxis, Abnormal platelet count, Impaired collagen-induce... OMIM:614201
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:609821
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:187950
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets OMIM:608404
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation OMIM:173420
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function, Abnormal bleeding ORPHA:231393
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility,... OMIM:614009
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Purpura, Abnormal bleeding, Epistaxis, Thrombocytopenia, Gingiv... OMIM:231200
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, P... OMIM:187800
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Bruising susceptibility, Ecchymosis OMIM:614158
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... OMIM:277480
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Abn... OMIM:155100
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Intestinal bleeding, Menorrhag... OMIM:605735
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi... OMIM:601709
Factor V Deficiency
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... OMIM:227400
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired platelet aggregation, Meno... OMIM:617443
Hermansky-Pudlak Syndrome 7
Post-partum hemorrhage, Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Menorr... OMIM:614076
Gray Platelet Syndrome
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaire... OMIM:139090
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Bleeding Disorder, Platelet-Type, 17
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... OMIM:187900
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal alpha granule content, Impaired platelet aggregation, Bruising susceptibility, Abnormal ... OMIM:601399
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Spontaneous, recurrent epistaxis, Abnormal bleeding, Bruising ... OMIM:614072
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Impaired platelet aggregation, Epistax... OMIM:193400
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged prothrombin time, Gingival bleeding, Me... OMIM:613679
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding OMIM:188025
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding OMIM:185050
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired collagen-related peptide-induced platelet aggregation, Petechiae, Impaired ADP-induced p... OMIM:153670
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Epistaxis, Prolonged bleeding time, Thrombocytopenia, Increas... OMIM:314050
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Abnormal platelet granules, Gia... ORPHA:238459
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Hemophilia B
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... ORPHA:98879
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Absent platelet dense granule... OMIM:614074
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Prolonged bleeding after surgery, Petechiae, Spontaneous... ORPHA:274
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Meckel Syndrome, Type 8
Polydactyly, Cleft upper lip, Ambiguous genitalia, Anophthalmia, Enlarged kidney, Polycystic kidn... OMIM:613885
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:614075
Immunodeficiency 81
Petechiae, Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-... OMIM:619374
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Microphthalmia, Brachydactyly OMIM:233270
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia, Giant platelets, Prolonge... ORPHA:182050
Mmep Syndrome
Triphalangeal thumb, Mandibular prognathia, Median cleft lip, Split foot, Microphthalmia, Cryptor... ORPHA:3434
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Bicornuate uterus, Micrognathia, Renal agenesis, Azoospermia, Unilateral renal a... OMIM:601076
Hermansky-Pudlak Syndrome 11
Bruising susceptibility, Epistaxis, Gingival bleeding, Menorrhagia, Reduced platelet dense granul... OMIM:619172
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Thrombocytopenia, Bone marrow hypocellularity, Impaired platelet aggregation OMIM:300835
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Congenital Factor Ii Deficiency
Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr... ORPHA:325
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Hypersplenism, Hepatosplenomegaly, Renal cyst, Redu... OMIM:619902
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Dentin Dysplasia, Type I
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... OMIM:125400
Essential Thrombocythemia
Abnormality of thrombocytes, Prolonged bleeding time, Abnormal platelet morphology ORPHA:3318
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Ambiguous genitalia, Bifid tongue, Renal dysplasia, Cleft palate, Short ribs, En... OMIM:613091
Factor X Deficiency
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Prolonged prothrombin time, Menorrhagia, P... OMIM:227600
Microphthalmia, Isolated 4
Absent testis, Microphthalmia, Postaxial polydactyly OMIM:613094
Microphthalmia, Syndromic 12
Retrognathia, Anophthalmia, Bicornuate uterus, Micrognathia, Microphthalmia, Cryptorchidism OMIM:615524
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... OMIM:604928
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged pr... ORPHA:327
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite OMIM:617297
Metaphyseal Chondrodysplasia, Spahr Type
Genu varum, Progressive leg bowing, Short lower limbs, Hip dysplasia, Metaphyseal chondrodysplasi... ORPHA:2501
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Nephronophthisis 16
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... OMIM:615382
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, High palate, Hypogonadism, Narrow mouth, Microphthalmia ORPHA:2528
Microphthalmia, Syndromic 8
Cleft upper lip, Mandibular prognathia, Split foot, Microphthalmia, Widely-spaced maxillary centr... OMIM:601349
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Splenomegaly, Hepatomegaly OMIM:615285
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly, Median cleft palate ORPHA:2432
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Macrothrombocy... OMIM:603585
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microphthalmia, Rocker bottom foot, Cleft palate OMIM:616570
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Abnormal ora... ORPHA:85445
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Dental Ankylosis
Tooth agenesis, Mandibular prognathia, Clinodactyly of the 5th finger, Abnormal dental enamel mor... ORPHA:1077
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Excessive bleeding from superf... OMIM:614077
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Denys-Drash Syndrome
Nephroblastoma, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous... OMIM:194080
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Bone marrow hypocellularity, Prolonged bleeding... ORPHA:3226
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hip dysplasia, Microphthalmia, Abnormal localization of kidney, Abnorma... ORPHA:195
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... OMIM:612965
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Orofacial cleft OMIM:611638
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... ORPHA:49042
Seckel Syndrome 2
Micrognathia, Microdontia, Clinodactyly of the 5th finger, Ectopic kidney, Hypospadias, Microglos... OMIM:606744
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Micrognathia, Hydrour... ORPHA:2547
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Bilateral renal agenesis, Optic nerve hypoplasia, Vaginal atresia, Microphthal... OMIM:617914
Satoyoshi Syndrome
Genu varum, Tapered finger, Abnormality of the humerus, Abnormality of the ovary, Abnormality of ... ORPHA:3130
Biemond Syndrome Type 2
Hypogonadism, Hypospadias, Preaxial polydactyly, Microphthalmia, Hypogonadotropic hypogonadism ORPHA:141333
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip, Hematuria, Microphthalmia OMIM:120433
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Polycystic ovaries, Enlarged polycystic ovaries ORPHA:90301
Thick upper lip vermilion, Ambiguous genitalia, Micrognathia, Median cleft lip, Fibular bowing, E... OMIM:612651
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Short philtr... ORPHA:1617
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... ORPHA:35909
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... OMIM:602088
Sitosterolemia 1
Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation, Giant platelets OMIM:210250
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Micrognathia, Enlarged kidney OMIM:618272
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Micrognathia, Short philtrum, Downturned corners of mouth, Proximal placemen... ORPHA:93267
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... OMIM:204700
46,Xy Sex Reversal 4
High palate, Long philtrum, Sex reversal, Renal dysplasia, Micrognathia, Hypoplastic labia majora... OMIM:154230
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage ORPHA:90308
Meckel Syndrome 12
Bilateral renal agenesis, Micrognathia, Bifid uvula, Ureteral hypoplasia, Vaginal atresia, Renal ... OMIM:616258
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Pierpont Syndrome
Short toe, Short foot, Prominent median palatal raphe, Widely spaced teeth, Short finger, Everted... OMIM:602342
Pierpont Syndrome
Short toe, Widely spaced teeth, Short finger, Everted lower lip vermilion, Thin upper lip vermili... ORPHA:487825
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta OMIM:104530
Micrognathia, Enlarged kidney, Missing ribs, Narrow pelvis bone, Cystic renal dysplasia, Absent i... OMIM:608022
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... OMIM:125500
Hermansky-Pudlak Syndrome 1
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Prolonged bleeding time, Hemat... OMIM:203300
Xk Aprosencephaly Syndrome
Narrow mouth, Abnormal morphology of the radius, Microphthalmia, Abnormal external genitalia ORPHA:3469
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... OMIM:166750
Hyperparathyroidism, Transient Neonatal
Undulate ribs, Short long bone, Short ribs, Enlarged kidney, Splenic cyst, Unilateral renal agene... OMIM:618188
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip, Microphthalmia OMIM:600251
Gracile Bone Dysplasia
Asplenia, Slender long bone, Ankyloglossia, Flared metaphysis, Microphthalmia, Brachydactyly, Hyp... OMIM:602361
Microphthalmia, Syndromic 9
Anophthalmia, Bicornuate uterus, Renal malrotation, Micrognathia, Multilobulated spleen, Bilatera... OMIM:601186
Pyle Disease
Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absen... OMIM:265900
Autoerythrocyte Sensitization Syndrome
Intracranial hemorrhage, Bruising susceptibility, Autoimmune thrombocytopenia, Epistaxis, Ecchymo... ORPHA:324636
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Hypoplasia of the ut... ORPHA:168563
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Ovarian Dysgenesis 6
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:618078
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Short philtrum, Abnormality of the ovary, Abnormal vagina morphology, Brachydacty... ORPHA:247768
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Splenomegaly, Nephrotic syndrome, Enlarged kidney, Flared iliac wing, Macr... OMIM:617303
Kaposiform Lymphangiomatosis
Abnormality of the ischium, Enlarged kidney, Abnormal spleen morphology, Abnormal lymphatic vesse... ORPHA:464329
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ... OMIM:615297
Trisomy 13
Hydronephrosis, Anophthalmia, Long philtrum, Abnormal morphology of female internal genitalia, Ap... ORPHA:3378
Braddock-Carey Syndrome 2
Retrognathia, Pierre-Robin sequence, Wide mouth, Clinodactyly, Microphthalmia, Cleft palate OMIM:619981
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... OMIM:263200
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... OMIM:204650
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Reduced natural killer cell activity, Impaired ADP-induced plat... OMIM:608233
Microphthalmia ORPHA:35612
Temtamy Syndrome
Short toe, Genu varum, Thick lower lip vermilion, Micrognathia, Clinodactyly of the 5th finger, A... ORPHA:1777
Meckel Syndrome, Type 5
Cleft upper lip, Postaxial foot polydactyly, Renal cyst, Microphthalmia, Postaxial hand polydacty... OMIM:611561
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Small hand, Long philtrum, Delayed eruption of teeth, 4-5 finger syndactyly,... OMIM:257850
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... OMIM:616221
Bent Bone Dysplasia Syndrome 1
Abnormally large globe, Hypoplastic pubic bone, Natal tooth, Micrognathia, Hepatosplenomegaly, Br... OMIM:614592
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Foot polydactyly, Enlarged kidney, Hydrocele testis, Macrodactyly, Ovarian serous... ORPHA:276280
Cofs Syndrome
Camptodactyly of finger, Hypogonadism, Micrognathia, Everted lower lip vermilion, Microphthalmia ORPHA:1466
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Enamel hypoplasia, Genu valgum, Mandibular prognathia, Advanced ossification of carpal bones, Cox... OMIM:618363
Moebius Syndrome
Short phalanx of finger, High palate, Aplasia/Hypoplasia involving the metacarpal bones, Decrease... OMIM:157900
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia With Limb Anomalies
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Unilateral ... OMIM:206920
Diethylstilbestrol Syndrome
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... ORPHA:1916
Bresek Syndrome
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Decreased testicular size, Opt... ORPHA:85284
Matthew-Wood Syndrome
Vesicoureteral reflux, Anophthalmia, Abnormal spleen morphology, Abnormality of the uterus, Micro... ORPHA:2470
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:614841
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Tapered finger, Narrow palate, High palate, Renal dysplasia, Enlarged kidney, Polycy... OMIM:608836
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Wide mouth, Micrognathia, Short... ORPHA:163966
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hand polydactyly, Proximal placement of thumb, Absent radius, ... OMIM:314390
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Microphthalmia, Hepatomegaly, Cryptorchidism OMIM:613730
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly OMIM:610023
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... OMIM:609441
Thrombocytopenia-Absent Radius Syndrome
Coxa valga, Micrognathia, Hip dislocation, Cervical ribs, Phocomelia, Cleft palate, Aplasia/hypop... ORPHA:3320
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Nanophthalmos 4
Microphthalmia OMIM:615972
Satoyoshi Syndrome
Osteolytic defects of the phalanges of the hand, Genu valgum, Short metacarpal, Brachydactyly, Sh... OMIM:600705
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Tooth agenesis, Microphthalmia, Hypogonadotropic hypogonadism, Cleft palate ORPHA:1135
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Short tibia, Ambiguous genitalia, Bifid tongue, Hypoplastic facial bones, Cleft ... OMIM:616300
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:300510
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial foot polydactyly, Renal hypoplasia, Microphthalmia, Postaxial hand ... OMIM:615665
H Syndrome
Cleft upper lip, Hallux valgus, Hypogonadism, Decreased testicular size, Enlarged kidney, Abnorma... ORPHA:168569
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Enlarged kidney, Cystic renal dysplasia, Femoral bowing, Hepatomegaly OMIM:615415
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Mucolipidosis Ii Alpha/Beta
Hip subluxation, Coxa valga, Micrognathia, Flared iliac wing, Camptodactyly, Hip dislocation, Hep... OMIM:252500
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Warburg Micro Syndrome 1
External genital hypoplasia, Micrognathia, Overlapping toe, Narrow mouth, Microphthalmia, Cryptor... OMIM:600118
Seckel Syndrome 7
Abnormal carpal morphology, Short middle phalanx of the 5th finger, Hip dysplasia, Clinodactyly o... OMIM:614851
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Retrognathia, Abnormal fallopian tube morphology, Anophthalmia, Gingival cleft, Micrognathia, Bif... ORPHA:2189
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
High palate, Delayed eruption of teeth, Renal malrotation, Clinodactyly, Short philtrum, Everted ... OMIM:615866
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Genu valgum, Tooth malposition, Long philtrum, Delayed eruption of teeth, Oli... ORPHA:2712
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... OMIM:618386
Decreased circulating antibody level, Abnormal bleeding, Impaired platelet aggregation, Decreased... ORPHA:79329
Oculocerebrocutaneous Syndrome
Anophthalmia, Congenital hip dislocation, Microphthalmia, Cryptorchidism, Cleft palate OMIM:164180
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia, Bone marrow hypocellularity OMIM:609054
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Clinodactyly, Microphthalmia, Prox... OMIM:617883
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... OMIM:277450
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Clinodactyly, Camptodactyly, Median cleft lip, Hypoplasia of the max... OMIM:136760
Popliteal Pterygium Syndrome
Fibrous syngnathia, Cleft upper lip, Lower lip pit, Cutaneous finger syndactyly, Bifid scrotum, H... OMIM:119500
Wiskott-Aldrich Syndrome
Petechiae, Abnormal platelet function, Purpura, Intracranial hemorrhage, Bruising susceptibility,... ORPHA:906
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Septo-optic dysplasia, Micrognathia, Missing ribs, Aplasia/Hypoplas... ORPHA:3301
Developmental Delay With Variable Neurologic And Brain Abnormalities
Widely spaced teeth, Micrognathia, Microdontia, Camptodactyly, Down-sloping shoulders, Microphtha... OMIM:619694
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Clubbing of fi... ORPHA:335
Amelogenesis Imperfecta, Type If
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta OMIM:616270
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Clinodactyly, Br... OMIM:618727
Nance-Horan Syndrome
Mandibular prognathia, Short metacarpal, Supernumerary tooth, Microphthalmia, Abnormality of the ... ORPHA:627
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, 2-3 toe syndactyly, Mandibular prognathia, Micrognathia, Lens coloboma, Renal hypop... OMIM:618914
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Enamel hypoplasia, Hypodontia, Oral mucosal blisters, Carious teeth OMIM:226650
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Ring Chromosome 10 Syndrome
Tapered finger, Long philtrum, Renal hypoplasia/aplasia, Micrognathia, Microphthalmia, Sandal gap... ORPHA:1438
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Abnormally large globe, Coxa valga, Mandibular prognathia, High palate, ... OMIM:269300
Amed Syndrome, Digenic
Bone marrow hypocellularity, Long thumb, Hypoplasia of the uterus OMIM:619151
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Micrognathia, Hydrocele testis, Aplasia of the uterus, Hors... OMIM:266810
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Micrognathia, Malar prominence, Microphthalmia, Hypogonadotropic hypogon... ORPHA:48431
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Ab... ORPHA:251004
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
Hypoplasia of the bladder, Long philtrum, Wide mouth, Short long bone, Bicornuate uterus, Microgn... ORPHA:79328
46,Xx Sex Reversal 2
Sex reversal, Bifid scrotum, Hypoplasia of the vagina, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:104510
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Micrognathia, Microphthalmia, Small scrotum, Micropenis, Rocker bottom foot OMIM:610756
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... OMIM:301200
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, Abnormality of the kidne... OMIM:137920
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Metaphyseal cupping of proximal ph... OMIM:300863
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Long philtrum, High, narrow palate, Hip dysplasia, Unilateral renal agenesis, Overlapping toe, Th... OMIM:618494
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of the thumb, Long philtrum, Cutaneous finger syndactyly, Hip dysplasia, Hyp... OMIM:618419
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Decreased testicular size, Camptodactyly, Azoospermia, Non-obstructive azoos... ORPHA:432
Nance-Horan Syndrome
Short phalanx of finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry m... OMIM:302350
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Horseshoe kidney, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Long philtrum, Delayed eruption of teeth, Micrognathia, Camptodactyly, Microphthalmia... OMIM:214150
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Bartsocas-Papas Syndrome 2
Small hand, 2-5 finger cutaneous syndactyly, Micrognathia, Microphthalmia, Absent distal phalange... OMIM:619339
Congenital Toxoplasmosis
Cardiomegaly, Lymphadenopathy, Microphthalmia, Hepatomegaly ORPHA:858
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microphthalmia OMIM:300915
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria OMIM:274270
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Polydactyly, Syndactyly, Microphthalmia, Smooth philtrum OMIM:602501
Microphthalmia, Lenz Type
Camptodactyly of finger, Hydronephrosis, Complete duplication of thumb phalanx, Finger syndactyly... ORPHA:568
Helsmoortel-Van Der Aa Syndrome
Polydactyly, Tapered finger, Microdontia, Broad hallux, Everted lower lip vermilion, Smooth philt... OMIM:615873
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Congenital hip dislocat... OMIM:169550
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Micrognathia, Microphthalmia OMIM:616171
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, High palate, Long philtrum, Micrognathia, Flat acetabular roof, Abnormal femoral neck... ORPHA:163649
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Widely spaced teeth, Microdontia, Multiple bladder diverticula, Microphthalmia, Cr... ORPHA:2728
Cousin Syndrome
2-3 toe syndactyly, Humeroradial synostosis, Ambiguous genitalia, female, Micrognathia, Camptodac... OMIM:260660
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Cleft pal... ORPHA:1106
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu varum, Genu valgum, Coxa valga, Hyperphosphaturia, Medullary nephrocalcinosis, Carious teeth... OMIM:613312
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Mixed Connective Tissue Disease
Prolonged bleeding time, Purpura, Gastrointestinal hemorrhage ORPHA:809
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dys... OMIM:208540
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Ambiguous genitalia, Hypoplastic pubic... ORPHA:2839
Hartsfield Syndrome
Non-midline cleft lip, Aplasia/Hypoplasia of the radius, Microphthalmia, Split hand, Cleft palate ORPHA:2117
Glycogen Storage Disease Ib
Oral ulcer, Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, Foc... OMIM:232220
Cleidocranial Dysplasia
Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia, Abnormal rib ... ORPHA:1452
Joubert Syndrome 37
High palate, Decreased testicular size, Microphthalmia, Hepatomegaly, Cryptorchidism, Micropenis,... OMIM:619185
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Prolonged prothrombin time, Thromb... ORPHA:49566
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... ORPHA:1028
Monosomy 18P
Micrognathia, Hypodontia, Short philtrum, Downturned corners of mouth, Microphthalmia, Brachydact... ORPHA:1598
Fanconi Anemia, Complementation Group G
Microphthalmia, Abnormal thumb morphology OMIM:614082
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth OMIM:125420
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Cervical ribs, Duplic... OMIM:312870
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Micr... OMIM:609945
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Baraitser-Winter Syndrome 2
Retrognathia, Long philtrum, Wide mouth, Thin upper lip vermilion, Microphthalmia, Orofacial cleft OMIM:614583
Temtamy Syndrome
Long philtrum, Micrognathia, Hip dislocation, Short 2nd toe, Microphthalmia, Brachydactyly, Denta... OMIM:218340
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Petechiae, Purpura, Epista... OMIM:301000
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Mosaic Trisomy 9
Camptodactyly of finger, Abnormal fallopian tube morphology, Asplenia, High palate, Renal dysplas... ORPHA:99776
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tapered finger, Delayed eruption of teeth, Micrognathia, Camptodactyly, Over... OMIM:619148
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
High palate, Ketonuria, Microphthalmia, Hepatomegaly, Renal hypoplasia OMIM:619053
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Oral ulcer, Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, H... OMIM:602450
Perrault Syndrome 4
Cleft palate, Hypoplasia of the ovary, Bicornuate uterus, Hypoplasia of the uterus OMIM:615300
Lymphoid Interstitial Pneumonia
Enlarged kidney, Mediastinal lymphadenopathy, Hepatomegaly, Clubbing ORPHA:79128
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia, Bilateral cleft lip and palate ORPHA:1473
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Renal cortical cysts, Pancreatic hyperplas... OMIM:130650
Pallister-Hall Syndrome
Precocious puberty, Short 4th metacarpal, Renal dysplasia, Toe syndactyly, Hip dislocation, Posta... OMIM:146510
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Microphthalmia, Hypogonadism, Cryptorchidism ORPHA:363741
Meacham Syndrome
Bicornuate uterus, Enlarged kidney, Male pseudohermaphroditism, Blind vagina, Horseshoe kidney, A... OMIM:608978
Meckel Syndrome, Type 2
Polydactyly, Renal cyst, Microphthalmia, Postaxial hand polydactyly, Cleft palate, Bowing of the ... OMIM:603194
Microgastria-Limb Reduction Defect Syndrome
Renal dysplasia, Phocomelia, Hepatomegaly, Ectrodactyly, Absent hand, Multicystic kidney dysplasi... ORPHA:2538
Marden-Walker Syndrome
High palate, Long philtrum, Micrognathia, Camptodactyly, Radioulnar synostosis, Hypospadias, Narr... OMIM:248700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Gingivitis, Oral ulcer, Periodontitis, Stage 5 chronic kidney disease, Enlarged kidney, Polycysti... ORPHA:79259
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Recurrent urinary tract infections, Micrognathia, Velopharyngeal insufficien... OMIM:613680
Mosaic Trisomy 1
Camptodactyly of finger, Renal cortical cysts, 2-3 finger syndactyly, Toe syndactyly, Absent dist... ORPHA:1692
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Renal interstitial immunoglobulin deposits, Sialadeniti... ORPHA:449395
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip, Microphthalmia OMIM:614402
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Long philtrum, Deep philtrum, Micrognathia, Bifid uvula, Abnormal oral frenul... ORPHA:404440
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Polysplenia, Cystic renal dysplasia, Hepatomegaly, Postaxial hand polydactyly OMIM:200995
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Elevated urinary aminoisobutyric acid, Elevated urinary 3-hydroxybuty... OMIM:614105
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... OMIM:146255
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Tapered finger, Deep philtrum, 2-3 finger syndactyly, Micrognathia, Short ... ORPHA:435638
Martsolf Syndrome 1
Short phalanx of finger, Finger joint hypermobility, Micrognathia, Metatarsus adductus, Short pal... OMIM:212720
Ritscher-Schinzel Syndrome 3
Short first metatarsal, Short 1st metacarpal, Shortening of all distal phalanges of the fingers, ... OMIM:619135
Isolated Optic Nerve Hypoplasia/Aplasia
Vesicoureteral reflux, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral micropht... ORPHA:137902
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Orofacial cleft ORPHA:324416
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Dagger-shaped pulp calcificatio... OMIM:204690
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Meckel Syndrome 14
Retrognathia, Ambiguous genitalia, Micrognathia, Polycystic kidney dysplasia, Microretrognathia, ... OMIM:619879
Enamel-Renal Syndrome
Impaired renal concentrating ability, Enuresis, Delayed eruption of teeth, Nephrocalcinosis, Hypo... ORPHA:1031
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Baraitser-Winter Syndrome 1
Retrognathia, Cleft upper lip, Long philtrum, Wide mouth, Duplication of phalanx of hallux, Thin ... OMIM:243310
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Retrognathia, Recurrent urinary tract infections,... ORPHA:363444
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Broad thumb, Microphthalmia, Smooth philtrum, Brachydactyly OMIM:614526
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Micrognathia, Ovarian cyst, Short palm, Unicornuate uterus, Multicysti... OMIM:614527
Fanconi Anemia, Complementation Group I
Vesicoureteral reflux, Absent thumb, Short 1st metacarpal, Hypoplasia of the radius, Optic nerve ... OMIM:609053
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Osteoporosis-Pseudoglioma Syndrome
Crumpled long bones, Isosexual precocious puberty, Abnormal lower limb bone morphology, Abnormal ... ORPHA:2788
Cohen Syndrome
Tapered finger, Micrognathia, Tooth agenesis, Gingival overgrowth, Genu valgum, Cryptorchidism, A... ORPHA:193
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Tibial torsion, Renal malrotation, Th... ORPHA:500095
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short foot, Small hand, Long philtrum, Micrognathia, Bifid uvula, Thin upper lip vermilion, Micro... OMIM:241410
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Hepatomegaly, Abnormal metaphysis morphology, Spl... ORPHA:290
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Aplastic clavicle, Narrow palate, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Ab... OMIM:265800
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Chédiak-Higashi Syndrome
Abnormal platelet function, Abnormal bleeding, Bruising susceptibility, Epistaxis, Increased prop... ORPHA:167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Microphthalmia With Brain And Digit Anomalies
High palate, Finger syndactyly, Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Proxima... ORPHA:139471
8Q21.11 Microdeletion Syndrome
Camptodactyly of finger, High palate, Finger syndactyly, Micrognathia, Abnormal metacarpal morpho... ORPHA:284160
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Short tibia, Hypoplastic pubic bone, Uterus didelphys, Natal tooth, Short ribs, ... OMIM:617925
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Narrow mouth, Optic nerve hypoplasia, Microphthalmia, Thin ribs OMIM:614833
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Enamel hypoplasia, Macroorchidism, High palate, Ankyloglossia, Unilateral microphthalmos, Adducte... OMIM:618874
Ogden Syndrome
Metatarsus valgus, Thick upper lip vermilion, Everted upper lip vermilion, Micrognathia, Broad ha... OMIM:300855
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Downturned corners of mouth, Microphthalmia, Smooth philtrum, Cardiomegaly OMIM:618652
Teebi-Shaltout Syndrome
Wide mouth, High, narrow palate, Caudal appendage, Oligodontia, Camptodactyly, Metatarsus adductu... OMIM:272950
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, 2-3 toe syndactyly, High palate, Short philtrum, Everted lower lip vermilion, Tente... OMIM:616449
Focal Dermal Hypoplasia
Camptodactyly of finger, Toe syndactyly, Tooth agenesis, Abnormal dental enamel morphology, Multi... ORPHA:2092
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Enlarged kidney, Macroglossia, Hepatosplenomegaly, Bone marrow hypocellularit... ORPHA:505248
Pseudotrisomy 13 Syndrome
11 pairs of ribs, 2-3 toe syndactyly, Cleft upper lip, Bicornuate uterus, Renal agenesis, Median ... OMIM:264480
Stevenson-Carey Syndrome
Pierre-Robin sequence, Recurrent urinary tract infections, Hip dysplasia, Camptodactyly, Downturn... OMIM:611961
Fryns Syndrome
Non-midline cleft lip, Vesicoureteral reflux, Multicystic kidney dysplasia, High palate, Long phi... ORPHA:2059
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
17Q12 Microduplication Syndrome
Toe syndactyly, Cleft palate, Microphthalmia, Finger syndactyly ORPHA:261272
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Conical tooth, Hypogonadism, Microphthalmia, Cryptorchidism, Small scrotum, Broad philtrum, Abnor... ORPHA:228390
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Cl... ORPHA:364577
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... ORPHA:85167
Glycogen Storage Disease Ia
Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, Focal segmental... OMIM:232200
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, High palate, Deep philtrum, Widely spaced teeth, 3-4 finger cutaneous syndactyly... OMIM:612530
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Flexion contracture of toe, Slender long bone, Micrognathia, Hip disloca... OMIM:610758
Micro Syndrome
High palate, Micrognathia, Hypoplastic labia minora, Short philtrum, Hypoplasia of penis, Clitora... ORPHA:2510
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Vesicoureteral reflux, Optic dis... OMIM:607323
Tetraamelia Syndrome 1
Urethral atresia, Cleft upper lip, Asplenia, Micrognathia, Renal agenesis, Absent external genita... OMIM:273395
Ohdo Syndrome, X-Linked
High palate, Long philtrum, Widely spaced teeth, Shawl scrotum, Hip dysplasia, Micrognathia, Clin... OMIM:300895
Momo Syndrome
Short sternum, Thick upper lip vermilion, Dental malocclusion, High palate, Long philtrum, Delaye... ORPHA:2563
Roberts Syndrome
Micrognathia, Long penis, Phocomelia, Radial deviation of finger, Cleft palate, Synostosis of car... ORPHA:3103
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Hypoplasia of penis, Hypospadias, Microphthalmia, Cryptorchidism ORPHA:77298
Kapur-Toriello Syndrome
Camptodactyly of finger, Cleft upper lip, Clinodactyly of the 5th toe, Hypoplastic labia majora, ... OMIM:244300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Hypogonadism, External genital hypoplasia, Bifid uvula, Submucous cleft hard palate... ORPHA:2250
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Short hallux, Vesicoureteral reflux, Radial cl... ORPHA:959
Basel-Vanagaite-Smirin-Yosef Syndrome
2-3 toe syndactyly, Broad distal phalanx of the toes, Overlapping toe, Everted lower lip vermilio... ORPHA:464738
Sandestig-Stefanova Syndrome
Retrognathia, High palate, Clinodactyly, Camptodactyly, Microphthalmia, Rocker bottom foot, Orofa... OMIM:618804
Beckwith-Wiedemann Syndrome
Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Mandibular prognathia, Cardiomegaly, Conge... ORPHA:116
Treacher-Collins Syndrome
Hypoplasia of the thymus, Micrognathia, Tooth agenesis, Cleft palate, Glossoptosis, Abnormal dent... ORPHA:861
Multiple Benign Circumferential Skin Creases On Limbs
Abnormality of the scrotum, Long philtrum, Micrognathia, Hypospadias, Microphthalmia, Cryptorchid... ORPHA:2505
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Blepharophimosis, Ptosis, And Epicanthus Inversus
High palate, Microphthalmia, Hypoplasia of the uterus OMIM:110100
Warburg Micro Syndrome 3
Narrow palate, Decreased testicular size, Micrognathia, Hypoplastic labia minora, Clinodactyly of... OMIM:614222
Tyrosinemia, Type I
Enlarged kidney, Glomerular sclerosis, Hepatomegaly, Nephrocalcinosis, Renal insufficiency, Renal... OMIM:276700
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Tapered finger, Toe syndactyly, Micrognathia, Everted lower lip vermilio... ORPHA:251014
Orofaciodigital Syndrome Iii
Short sternum, Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Posta... OMIM:258850
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Subaortic Stenosis-Short Stature Syndrome
Micrognathia, Synostosis of carpal bones, Microphthalmia, Microdontia ORPHA:3191
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... OMIM:120330
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Meckel Syndrome, Type 4
Renal cyst, Microphthalmia, Postaxial hand polydactyly, Cleft palate, Bowing of the long bones OMIM:611134
Leydig Cell Hypoplasia
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... ORPHA:755
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, Bruising susc... ORPHA:99147
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Acute kidney injury, Micrognathia, Enlarged kidney, Polycysti... ORPHA:731
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Cryptorchidism, Cleft palate, Micropenis OMIM:610125
Meckel Syndrome, Type 1
Camptodactyly of finger, Asplenia, Hypoplasia of the bladder, Ambiguous genitalia, female, Microg... OMIM:249000
Meckel Syndrome
Urethral atresia, Ambiguous genitalia, Preaxial hand polydactyly, Aplasia/Hypoplasia of the tongu... ORPHA:564
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, G... OMIM:273250
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Retrognathia, 2-3 toe syndactyly, Deep philtrum, Short philtrum, Microphthalmia, Smooth philtrum,... OMIM:620098
Chromosome 8Q21.11 Deletion Syndrome
High palate, Short metacarpal, Micrognathia, Camptodactyly, Short philtrum, Syndactyly, Downturne... OMIM:614230
3Q29 Microdeletion Syndrome
Tapered finger, High palate, Clinodactyly of the 5th finger, Short philtrum, Everted lower lip ve... ORPHA:65286
Oculodentodigital Dysplasia
Enamel hypoplasia, Cleft upper lip, High palate, Short middle phalanx of the 5th finger, Selectiv... OMIM:164200
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Deep philtrum, Renal dysplasia, Microretrognathia, Overlapping toe, Downturned cor... OMIM:618571
Holoprosencephaly 9
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Anophthalmia, Hypoplasia of the premax... OMIM:610829
Peters-Plus Syndrome
Short lingual frenulum, Micrognathia, Hypoplastic labia majora, Conical incisor, Square pelvis bo... OMIM:261540
Developmental And Epileptic Encephalopathy 1
Micropenis, Microphthalmia OMIM:308350
Noonan Syndrome
Abnormal platelet function, Abnormal bleeding ORPHA:648
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Unilateral microphthalmos, Hepatomegaly OMIM:615085
Fanconi Anemia, Complementation Group F
Vesicoureteral reflux, Absent thumb, Microphallus, 2-3 finger syndactyly, Hypoplasia of the radiu... OMIM:603467
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Hip dysplasia, Micrognathia, Hypospadias, Microphthalmia, Cryptorchidism ORPHA:494344
Short diaphyses, Short sternum, Broad femoral neck, Broad ribs, High palate, Natal tooth, Short r... OMIM:224300
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Hypoplasia of the uterus, Microphthalmia, Ovotestis, Cleft palate, Micropenis, Clito... OMIM:309801
Fryns Syndrome
Camptodactyly, Cleft palate, Rocker bottom foot, Shawl scrotum, Bicornuate uterus, Proximal place... OMIM:229850
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Cleft upper lip, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral micropht... OMIM:607597
Refsum Disease
Renal insufficiency, Short metacarpal, Microphthalmia, Hammertoe, Abnormal epiphysis morphology, ... ORPHA:773
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, High palate, Wide mouth, Widely spaced teeth, Clinodactyly, Camptodactyly,... ORPHA:369891
Stromme Syndrome
Wide mouth, Micrognathia, Optic nerve hypoplasia, Preaxial polydactyly, Microphthalmia, Bilateral... OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Macroglossia OMIM:613155
Multiple Synostoses Syndrome 1
Thick upper lip vermilion, 2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial devia... OMIM:186500
Fanconi Anemia, Complementation Group A
Absent thumb, Complete duplication of thumb phalanx, Renal agenesis, Ectopic kidney, Duplicated c... OMIM:227650
Trichothiodystrophy 3, Photosensitive
Natal tooth, Bilateral cryptorchidism, Eclabion, Microphthalmia, Carious teeth OMIM:616395
Clitoral hypertrophy, Enlarged kidney, Labial hypertrophy, Long penis, Hepatomegaly, Overgrowth o... ORPHA:508
Hallermann-Streiff Syndrome
Small hand, Natal tooth, Short ribs, Micrognathia, Clinodactyly of the 5th finger, Supernumerary ... ORPHA:2108
Vacterl With Hydrocephalus
Retrognathia, Abnormal fallopian tube morphology, Anophthalmia, Hypoplasia of the radius, Microgn... ORPHA:3412
Myoclonic-Astatic Epilepsy
Long philtrum, Wide mouth, Thick lower lip vermilion, Syndactyly, Thin upper lip vermilion, Micro... ORPHA:1942
Yunis-Varon Syndrome
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... ORPHA:3472
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Acrocallosal Syndrome
Tapered finger, Everted upper lip vermilion, Toe syndactyly, Bifid uvula, Abnormal oral frenulum ... OMIM:200990
Oculocerebrorenal Syndrome Of Lowe
Gingivitis, Glomerulopathy, Aminoaciduria, Delayed eruption of teeth, Micrognathia, Taurodontia, ... ORPHA:534
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries, Delayed epiphyseal ossification ORPHA:785
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Oligodactyly, Nar... OMIM:251230
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Precocious pube... OMIM:202010
Curry-Jones Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Micr... ORPHA:1553
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Dental malocclusion, High palate, Hypoplastic labia majora, Hypospadi... OMIM:603457
Fanconi Anemia, Complementation Group E
Absent thumb, Complete duplication of thumb phalanx, Renal agenesis, Ectopic kidney, Duplicated c... OMIM:600901
Joubert Syndrome 14
Short philtrum, Renal cyst, Tented upper lip vermilion, Microphthalmia, Cleft palate, Open mouth,... OMIM:614424
Cardiac-Urogenital Syndrome
2-3 toe syndactyly, Ambiguous genitalia, Bifid scrotum, Enlarged kidney, Patent urachus, Unilater... OMIM:618280
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Long philtrum, Deep philtrum, Thick lower lip vermilion, Thin upper lip ve... OMIM:152950
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Microphthalmia OMIM:617306
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, A... ORPHA:3109
Premature Aging Syndrome, Penttinen Type
Retrognathia, Short foot, Delayed eruption of teeth, Slender long bone, Micrognathia, Narrow phil... OMIM:601812
Solitary Median Maxillary Central Incisor
Cleft upper lip, Anophthalmia, Prominent median palatal raphe, Torus palatinus, Solitary median m... OMIM:147250
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Unilateral renal dysplasia, Missing ri... OMIM:184705
Fanconi Anemia, Complementation Group L
Absent thumb, Micrognathia, Unilateral renal agenesis, Aplasia of the uterus, Microphthalmia, Bon... OMIM:614083
Fetal Alcohol Syndrome
Non-midline cleft lip, Micrognathia, Microdontia, Thin upper lip vermilion, Microphthalmia, Smoot... ORPHA:1915
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Enlarged polycystic ovaries, Hypoplasia of the vagina, Female external genitalia in individual wi... ORPHA:90796
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Microphthalmia OMIM:167730
3Q29 Microduplication Syndrome
High palate, Deep philtrum, Toe syndactyly, Camptodactyly of toe, Microphthalmia, Sandal gap, Cle... ORPHA:251038
Warburg Micro Syndrome 4
Long philtrum, Decreased testicular size, Narrow mouth, Microphthalmia, Cryptorchidism, Small scr... OMIM:615663
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, High palate, Long philtrum, Toe syndactyly, Foot polydactyly, Ankyloglossi... ORPHA:250989
Basal Cell Nevus Syndrome 1
Bifid ribs, Polydactyly, Cleft upper lip, Mandibular prognathia, Short 4th metacarpal, Odontogeni... OMIM:109400
Trisomy 18
Camptodactyly of finger, Non-midline cleft lip, Narrow palate, Abnormal morphology of female inte... ORPHA:3380
Hallermann-Streiff Syndrome
Dental malocclusion, Narrow palate, High palate, Natal tooth, Selective tooth agenesis, Slender l... OMIM:234100
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, High palate, Short foot, Small hand, Delayed eruption of teeth, Hypogonadi... OMIM:268400
Holoprosencephaly-Postaxial Polydactyly Syndrome
Ambiguous genitalia, Hypoplasia of the premaxilla, Renal hypoplasia/aplasia, Micrognathia, Hypopl... ORPHA:2166
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Warburg Micro Syndrome 2
Clinodactyly of the 4th toe, Clinodactyly of the 5th toe, Hypoplastic labia majora, Overlapping t... OMIM:614225
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Bartsocas-Papas Syndrome 1
Short phalanx of finger, Absent thumb, Ambiguous genitalia, Micrognathia, Hypoplastic labia major... OMIM:263650
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Micrognathia, Hip dislocation, Cervical ribs, ... OMIM:274000
Adams-Oliver Syndrome 2
Microphthalmia, Micrognathia, Short middle phalanx of finger, Absent distal phalanges OMIM:614219
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... OMIM:158330
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Short 5th finger, Micrognathia, Hip dislocation, Optic nerve hypoplasia, Over... ORPHA:508498
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horizontal ribs, Splenomegaly, Postaxial polydactyly, Short ribs, Short long bone, Hypodontia, Hy... OMIM:617088
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Fraser Syndrome
Ambiguous genitalia, Bifid tongue, Toe syndactyly, Female pseudohermaphroditism, Abnormal vagina ... ORPHA:2052
Leukocyte Adhesion Deficiency
Impaired neutrophil chemotaxis, Abnormal bleeding, Impaired platelet aggregation, Thrombocytosis,... ORPHA:2968
Frontonasal Dysplasia 3
Cleft palate, Microphthalmia OMIM:613456
Heterotaxy, Visceral, 1, X-Linked
Asplenia, Short long bone, Enlarged kidney, Polysplenia, Renal agenesis, Congenital hip dislocati... OMIM:306955
Fanconi Anemia, Complementation Group C
Absent thumb, Complete duplication of thumb phalanx, Renal agenesis, Ectopic kidney, Duplicated c... OMIM:227645
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Acrofrontofacionasal Dysostosis 1
Cleft upper lip, Mandibular prognathia, Short metacarpal, Wide mouth, Oligodontia, Acetabular dys... OMIM:201180
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Cleft mandible, Exaggerated median tongue furrow, Micrognathia, Everted lower lip vermilion, Subm... OMIM:608670
Kapur-Toriello Syndrome
Hypoplastic labia majora, Hypoplasia of penis, Microphthalmia, Orofacial cleft ORPHA:2328
Fanconi Anemia, Complementation Group D2
Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly, Complete duplication of t... OMIM:227646
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Micrognathia, Clinodactyly of the... ORPHA:1352
Galloway-Mowat Syndrome 3
High palate, Nephrotic syndrome, Stage 5 chronic kidney disease, Micrognathia, Camptodactyly, Hip... OMIM:617729
Spondylo-Ocular Syndrome
Long philtrum, Thin vermilion border, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Lethal Omphalocele-Cleft Palate Syndrome