| 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 |
| Slc35A1-Cdg |
|
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 |
| Oligodontia |
|
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 |
| Endocrine-Cerebroosteodysplasia |
|
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 |
| Diaphanospondylodysostosis |
|
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 |
| Nanophthalmos |
|
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 |
| Hydrolethalus |
|
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 |
| Mgat2-Cdg |
|
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 |
| Alg9-Cdg |
|
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 |
| Pycnodysostosis |
|
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 |
| Cog8-Cdg |
|
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 |
| Dysosteosclerosis |
|
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 |
| Leprechaunism |
|
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 |
|
