Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... |
OMIM:173470 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Dk Phocomelia Syndrome |
|
Phocomelia, Encephalocele, Thrombocytopenia |
OMIM:223340 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... |
OMIM:155100 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
Frontonasal Dysplasia 1 |
|
Median cleft palate, Brachydactyly, Tetralogy of Fallot, Camptodactyly, Postaxial hand polydactyl... |
OMIM:136760 |
Isolated Dandy-Walker Malformation |
|
Dandy-Walker malformation, Encephalocele, Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
Moyamoya Disease With Early-Onset Achalasia |
|
Stroke, Raynaud phenomenon, Abnormal platelet aggregation, Moyamoya phenomenon, Abnormal cerebral... |
ORPHA:401945 |
Cocaine Embryofetopathy |
|
Short distal phalanx of finger, Hypertonia, Encephalocele |
ORPHA:1911 |
Joubert Syndrome 14 |
|
Growth delay, Hydrocephalus, Ataxia, Malar flattening, Postaxial polydactyly, Short philtrum, Ren... |
OMIM:614424 |
Aminopterin/Methotrexate Embryofetopathy |
|
Intrauterine growth retardation, Hydrocephalus, Cleft palate, Holoprosencephaly, Short stature, M... |
ORPHA:1908 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 8 |
|
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... |
OMIM:609821 |
Subependymal Nodular Heterotopia |
|
Myelomeningocele, Abnormal ethmoid bone morphology, Limb myoclonus, Partial agenesis of the corpu... |
ORPHA:101030 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Agenesis of corpus callosum, Downturned corners of mouth, Thin up... |
ORPHA:521308 |
Hartsfield Syndrome |
|
Intrauterine growth retardation, Cleft palate, Aplasia/Hypoplasia of the radius, Non-midline clef... |
ORPHA:2117 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... |
ORPHA:231393 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Ventriculomegaly, Oral cleft |
ORPHA:324416 |
Athrombia, Essential |
|
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... |
OMIM:209050 |
Acromelic Frontonasal Dysostosis |
|
Cleft upper lip, U-Shaped upper lip vermilion, Cleft palate, Preaxial polydactyly, Choroid plexus... |
OMIM:603671 |
Hermansky-Pudlak Syndrome 3 |
|
Bruising susceptibility, Abnormal bleeding, Abnormal number of dense granules, Gingival bleeding,... |
OMIM:614072 |
Joubert Syndrome 16 |
|
Polydactyly, Renal cyst, Oculomotor apraxia, Encephalocele, Dandy-Walker malformation |
OMIM:614465 |
Meckel Syndrome 13 |
|
Ataxia, Micrognathia, Polycystic kidney dysplasia, Oculomotor apraxia, Occipital encephalocele |
OMIM:617562 |
Scalp Defects-Postaxial Polydactyly Syndrome |
|
Postaxial polydactyly type A, Encephalocele |
ORPHA:1003 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm |
ORPHA:261102 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... |
OMIM:124900 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Cleft palate, Micrognathia, Postaxial hand polydactyly, Median cleft lip, Hip disl... |
OMIM:241800 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Hydrocephalus, Holoprosencephaly, Short stature, Platyspondyly, Brachydactyly, Patent d... |
ORPHA:93274 |
Enlarged Parietal Foramina |
|
Myelomeningocele, Short clavicles, Cleft palate, Abnormal cerebral vein morphology, Broad thumb, ... |
ORPHA:60015 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Progressive spastic quadriplegia |
OMIM:200130 |
Meckel Syndrome, Type 2 |
|
Cleft palate, Anencephaly, Polydactyly, Postaxial hand polydactyly, Renal cyst, Bowing of the lon... |
OMIM:603194 |
Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Absent hand, Hydrocephalus, Hypertonia, Arteriovenous malformatio... |
ORPHA:974 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet functi... |
ORPHA:2585 |
Griscelli Syndrome |
|
Hydrocephalus, Ataxia, Splenomegaly, Short stature, Leukopenia, Abnormality of neutrophils, Decre... |
ORPHA:381 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... |
OMIM:231200 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Cleft palate, Congenital hip dislocation, Agenesis of corpus callosum, Dan... |
OMIM:164180 |
Meckel Syndrome, Type 10 |
|
Cleft palate, Postaxial polydactyly, Anencephaly, Bifid uvula, Dilated fourth ventricle, Camptoda... |
OMIM:614175 |
Meckel Syndrome, Type 4 |
|
Hydrocephalus, Cleft palate, Anencephaly, Postaxial hand polydactyly, Renal cyst, Bowing of the l... |
OMIM:611134 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Glanzmann Thrombasthenia |
|
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... |
ORPHA:849 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Oculoauriculofrontonasal Syndrome |
|
Narrow mouth, Cleft palate, Encephalocele, Micrognathia, Scoliosis, Cleft lip, Broad philtrum |
ORPHA:398156 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Cleft palate, Polydactyly, Postaxial hand polydactyly, Encephalocele |
OMIM:613885 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Agenesis of corpus callosum, Frontal encephalocele, Arrhinencephaly |
ORPHA:1528 |
Distal Monosomy 13Q |
|
Hypertonia, Holoprosencephaly, Short stature, Anencephaly, Abnormal form of the vertebral bodies,... |
ORPHA:1590 |
Parietal Foramina 1 |
|
Cleft upper lip, Encephalocele, Cleft palate |
OMIM:168500 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Distally placed thumb, Cutaneous syndactyly, Short philtrum, Anencephaly, Delayed er... |
OMIM:619148 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time |
OMIM:615888 |
Parietal Foramina 2 |
|
Encephalocele |
OMIM:609597 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Hydrocephalus, Neonatal short-limb short stature, Severe s... |
OMIM:224400 |
Parietal Foramina 3 |
|
Encephalocele |
OMIM:609566 |
Lissencephaly 5 |
|
Spastic paraplegia, Hydrocephalus, Occipital encephalocele |
OMIM:615191 |
Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... |
OMIM:277480 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Occipital encephalocele |
ORPHA:352682 |
Focal Facial Dermal Dysplasia Type Iv |
|
Cleft upper lip, Hydrocephalus, Abnormal mast cell morphology, Cleft palate, Intracranial hemorrh... |
ORPHA:398189 |
Pseudoprogeria Syndrome |
|
Short stature, Progressive spastic quadriplegia, Cranium bifidum occultum, Spinal arachnoid cyst,... |
ORPHA:2985 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Anencephaly, Renal cyst, Spasticity, Ventriculomegaly, Occipital encephalocele, Ag... |
OMIM:615287 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... |
OMIM:614009 |
Coach Syndrome 1 |
|
Wide mouth, Ataxia, Growth delay, Splenomegaly, Hypertension, Postaxial hand polydactyly, Renal c... |
OMIM:216360 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Joubert Syndrome 9 |
|
Oculomotor apraxia, Encephalocele, Scoliosis, Ventriculomegaly |
OMIM:612285 |
Joubert Syndrome 7 |
|
Ataxia, Postaxial polydactyly, Scoliosis, Postaxial hand polydactyly, Genu valgum, Renal cyst, Oc... |
OMIM:611560 |
Craniotelencephalic Dysplasia |
|
Agenesis of corpus callosum, Frontal encephalocele, Arrhinencephaly |
OMIM:218670 |
Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
Lissencephaly 8 |
|
Appendicular spasticity, Occipital encephalocele, Ventriculomegaly |
OMIM:617255 |
Dural Sinus Malformation |
|
Hydrocephalus, Ataxia, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Poor coordination, Cer... |
ORPHA:97339 |
Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Ataxia, Cleft palate, Scoliosis, Oral cleft, Tremor, Hand polydactyly, Oculomotor ... |
ORPHA:220497 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Occipital encephalocele |
OMIM:614209 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia, Occipital encephalocele, Polydactyly |
OMIM:615397 |
Leber Congenital Amaurosis |
|
Encephalocele, Hemiplegia/hemiparesis |
ORPHA:65 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... |
OMIM:187900 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Ataxia, Cleft palate, Scoliosis, Oral cleft, Abnormal vertebral morphology, Tremor... |
ORPHA:220493 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Humeroradial synostosis, Occipital encephalocele, Oligodactyly |
OMIM:614416 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Abnormality of the dentition, Conical tooth, Broad philtrum, Intrauterine growth r... |
ORPHA:228390 |
Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... |
OMIM:193400 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Lumbar hyperlordosis, Macroglossia, Abnormal pyramidal sign, Dilated fourth ventri... |
ORPHA:370959 |
Schisis Association |
|
Cleft palate, Anencephaly, Unilateral cleft lip, Encephalocele, Spina bifida |
ORPHA:63862 |
Sneddon Syndrome |
|
Hemiplegia, Lymphopenia, Stroke, Cerebral hemorrhage, Decreased circulating total IgM, Tremor, Hy... |
OMIM:182410 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, Rhizomelia, Multinucleated giant chondrocytes in ep... |
OMIM:108720 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... |
OMIM:601399 |
Brain Small Vessel Disease 2 |
|
Hemiplegia, Intracranial hemorrhage, Spastic tetraplegia, Ventriculomegaly, Growth delay |
OMIM:614483 |
Mgat2-Cdg |
|
Kyphosis, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG le... |
ORPHA:79329 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function, Venous insufficiency, Deviation of finger |
ORPHA:903 |
Otopalatodigital Syndrome Type 2 |
|
Hydrocephalus, Cleft palate, Bowing of the long bones, Encephalocele, Carpal synostosis, Flared i... |
ORPHA:90652 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the legs, Hydrocephalus, Narrow mouth, Severe short stature, Cleft palate, Hypoplastic ... |
ORPHA:1865 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Joubert Syndrome |
|
Hydrocephalus, Ataxia, Scoliosis, Abnormal form of the vertebral bodies, Oral cleft, Tremor, Hand... |
ORPHA:475 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Holoprosencephaly, Short femur, Scoliosis, Anterior encephalocele, Bilateral cle... |
OMIM:601357 |
Acromelic Frontonasal Dysplasia |
|
Wide mouth, Aplasia/Hypoplasia of the tibia, Median cleft palate, Encephalocele, Choroid plexus c... |
ORPHA:1827 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Familial Cervical Artery Dissection |
|
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... |
ORPHA:36382 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b... |
OMIM:139090 |
Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Stroke, Cerebral vasculitis, Intracranial hemorrhage, Parkinsonism, Hemipare... |
ORPHA:140989 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Abnormality of the dentition, Scoliosis, Genu varum, Short lower limbs, Hy... |
ORPHA:2501 |
Meckel Syndrome, Type 5 |
|
Cleft upper lip, Cleft palate, Anencephaly, Postaxial hand polydactyly, Renal cyst, Postaxial foo... |
OMIM:611561 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Stroke, Respiratory paralysis, Abnormal bleeding, Intracranial hemorrhage... |
ORPHA:449285 |
Meckel Syndrome, Type 3 |
|
Hydrocephalus, Cleft palate, Multicystic kidney dysplasia, Polydactyly, Postaxial hand polydactyl... |
OMIM:607361 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Subcutaneous hemorrhage, Short philtrum, Pulmonary hemorrhage, Aortic regurgitation, Macr... |
OMIM:603585 |
Frontorhiny |
|
Lumbar hyperlordosis, Basal encephalocele, Cleft palate, Camptodactyly of finger, Bifid tongue, B... |
ORPHA:391474 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hemiparesis, Chorea, Tremor, Arterial stenosis, Hypertension |
ORPHA:820 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Short digit, Rhizomelic arm shortening... |
ORPHA:397715 |
Gabriele-De Vries Syndrome |
|
Malar flattening, Abnormality of the dentition, Long fingers, Tremor, Ventriculomegaly, Intrauter... |
OMIM:617557 |
Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... |
OMIM:605735 |
Arachnoid Cyst |
|
Paraparesis, Hydrocephalus, Holoprosencephaly, Abnormal spinal meningeal morphology, Subarachnoid... |
ORPHA:2356 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Cleft palate, Postaxial polydactyly, Preaxial polydactyly, Encephalocele, Bifi... |
OMIM:616300 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... |
ORPHA:325 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Pentalogy Of Cantrell |
|
Hydrocephalus, Cleft palate, Anencephaly, Scoliosis, Abnormality of tibia morphology, Oral cleft,... |
ORPHA:1335 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Periodontitis, Splenomegaly, Hepatosplenomegaly, Long philtrum,... |
OMIM:608233 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Pai Syndrome |
|
Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Encephalocele |
ORPHA:1993 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... |
OMIM:601709 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... |
OMIM:618363 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Coarctation of aorta, Ethmoidal encephalocele |
ORPHA:280195 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Anterior encephalocele |
OMIM:614195 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Hemiparesis, Ventriculomegaly, Meningocele, Syringomyelia, Dandy-Walker ... |
ORPHA:2481 |
Fetal Gaucher Disease |
|
High palate, Hypertonia, Splenomegaly, Intracranial hemorrhage, Abnormality of the spleen, Neonat... |
ORPHA:85212 |
Mirage Syndrome |
|
Hydrocephalus, Petechiae, Lymphopenia, Short stature, Radial club hand, Leukopenia, Overlapping f... |
OMIM:617053 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time |
OMIM:173420 |
Duplication Of The Pituitary Gland |
|
Wide mouth, Abnormality of the tongue, Thoracic scoliosis, Supernumerary tooth, Cleft palate, Sho... |
ORPHA:314621 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Hemiplegia, Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Parkinsonism, Cerebral ischemia... |
ORPHA:136 |
Lissencephaly 4 |
|
Hypertonia, Short stature, Babinski sign, Growth delay, Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Short stature, Small hand, Retrognathia, Broad finger, Short phalanx of fing... |
OMIM:300845 |
Iniencephaly |
|
Myelomeningocele, Hydrocephalus, Narrow mouth, Holoprosencephaly, Anencephaly, Hyperlordosis, Ora... |
ORPHA:63259 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Hermansky-Pudlak Syndrome 7 |
|
Abnormal bleeding, Impaired platelet aggregation, Epistaxis, Bruising susceptibility |
OMIM:614076 |
Holoprosencephaly |
|
Hydrocephalus, Chorea, Median cleft lip and palate, Solitary median maxillary central incisor, Sp... |
ORPHA:2162 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Cleft upper lip, High, narrow palate, Cleft palate, Broad proximal phalanges of the hand, Ethmoid... |
OMIM:607597 |
Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Bruising susceptibility, Post-partum hemorrhage, Ovarian cyst, Intracranial hem... |
ORPHA:327 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent int... |
ORPHA:906 |
Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Hydrocephalus, 2-3 toe syndactyly, Holoprosencephaly, Hemivertebrae, Coarctation... |
OMIM:264480 |
Meckel Syndrome, Type 1 |
|
Wide mouth, Hydrocephalus, Cleft palate, Anencephaly, Lobulated tongue, Bowing of the long bones,... |
OMIM:249000 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... |
ORPHA:274 |
Hypophosphatasia, Infantile |
|
Bowing of the legs, Stillbirth, Metaphyseal cupping, Disproportionate short-limb short stature, V... |
OMIM:241500 |
Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Ataxia, Scoliosis, Hand polydactyly, Encephalocele, Foot polydactyly |
ORPHA:2318 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Hemiplegia, Cerebral vasculitis, Eosinophilia, Decreased circulating total IgM, Subarachnoid hemo... |
OMIM:243700 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, Intracranial he... |
ORPHA:3226 |
Hermansky-Pudlak Syndrome 5 |
|
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... |
OMIM:614074 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired platelet aggregation, Menorrhagia |
OMIM:617443 |
Hermansky-Pudlak Syndrome 6 |
|
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... |
OMIM:614075 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Cerebral palsy, Intra... |
ORPHA:853 |
Meckel Syndrome 14 |
|
Microretrognathia, Tricuspid regurgitation, Postaxial polydactyly, Holoprosencephaly, Retrognathi... |
OMIM:619879 |
Afibrinogenemia, Congenital |
|
Abnormal umbilical stump bleeding, Subdural hemorrhage, Persistent bleeding after trauma, Bruisin... |
OMIM:202400 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Cerebrooculonasal Syndrome |
|
High palate, U-Shaped upper lip vermilion, Hydrocephalus, Narrow palate, Cleft palate, Postaxial ... |
OMIM:605627 |
Congenital Factor V Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... |
ORPHA:326 |
Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Reduced platelet dense g... |
OMIM:619172 |
Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Hypoplasi... |
ORPHA:861 |
Hermansky-Pudlak Syndrome 8 |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Impaired platelet agg... |
OMIM:614077 |
Joubert Syndrome With Hepatic Defect |
|
Hydrocephalus, Ataxia, Splenomegaly, Multicystic kidney dysplasia, Scoliosis, Oral cleft, Postaxi... |
ORPHA:1454 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Short stature, Retrognathia, Long philtrum, Moyamoya phenomenon, Dilated car... |
ORPHA:280679 |
Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
Congenital Factor Xiii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Cerebral h... |
ORPHA:331 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... |
ORPHA:99147 |
Familial Cerebral Saccular Aneurysm |
|
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Hemiparesis, Aortic di... |
ORPHA:231160 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hydrocephalus, Exaggerated startle response, Holoprosencephaly, Pulmonic stenosis, Scoliosis, Dil... |
OMIM:253800 |
Frontofacionasal Dysplasia |
|
Encephalocele, Short stature, Cleft palate, Non-midline cleft lip |
ORPHA:1791 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Hyperextensibility of the finger joints, Hypermobility of toe joints, Gait ataxia, Growth delay, ... |
ORPHA:488635 |
Chédiak-Higashi Syndrome |
|
Ataxia, Hemophagocytosis, Thrombocytopenia, Increased proportion of CD25+ mast cells, Tremor, Pan... |
ORPHA:167 |
Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... |
ORPHA:35909 |
Pseudohypoparathyroidism Type 1A |
|
Laryngeal dystonia, Delayed eruption of teeth, Short 3rd metacarpal, Broad distal phalanx of the ... |
ORPHA:79443 |
Severe Hemophilia A |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... |
ORPHA:169802 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hydrocephalus, Cerebral hemorrhage, Leukocytosis, ST segment depression, Cerebral ischemia, Synco... |
ORPHA:90065 |
Joubert Syndrome 2 |
|
High palate, Hydrocephalus, Ataxia, Postaxial hand polydactyly, Renal cyst, Enlarged fossa interp... |
OMIM:608091 |
Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Hydrocephalus, Ataxia, Femoral bowing, Abnormality of the dentit... |
ORPHA:666 |
Abeta Amyloidosis, Iowa Type |
|
Myoclonus, Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Adducted thumb, Retrognathia, Partial agenesis of the corpus callosum, Ventriculom... |
OMIM:614643 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Ataxia, Subependymal nodules, Subdural hemorrhage, Rigidity, Retinal hemorrhage, Communicating hy... |
ORPHA:25 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Menkes Disease |
|
Hypertonia, Metaphyseal spurs, Short stature, Metaphyseal widening, Intracranial hemorrhage, Babi... |
OMIM:309400 |
Vacterl/Vater Association |
|
Vertebral segmentation defect, Intrauterine growth retardation, Cleft palate, Preaxial hand polyd... |
ORPHA:887 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Bruising susceptibility, Finger joint hypermobility,... |
ORPHA:49042 |
Meckel Syndrome, Type 6 |
|
Cleft upper lip, Hydrocephalus, Cleft palate, Anencephaly, Hepatic cysts, Postaxial hand polydact... |
OMIM:612284 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia, Scoliosis, Ventriculomegaly, Encephal... |
OMIM:613150 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Coronary artery atherosclerosis, Reti... |
OMIM:210250 |
Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Cerebral palsy... |
ORPHA:53719 |
Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Moderate Hemophilia A |
|
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... |
ORPHA:169805 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... |
ORPHA:284388 |
Periventricular Nodular Heterotopia 1 |
|
Stroke, Cerebral hemorrhage, Syndactyly, Patent ductus arteriosus, Clinodactyly, Short finger |
OMIM:300049 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Paralysis, Cerebral hemorrhage |
OMIM:603285 |
Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
Factor Xiii, A Subunit, Deficiency Of |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
OMIM:613225 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Thrombocytopenia, Prolonged... |
ORPHA:49566 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Thoracolumbar scoliosis, Split... |
OMIM:183802 |
Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... |
OMIM:227600 |
Familial Multiple Nevi Flammei |
|
Hemiplegia, Arteriovenous malformation, Intracranial hemorrhage, Scoliosis, Hemiparesis, Pulmonar... |
ORPHA:624 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Clumsiness, Long philtrum, Adducted thumb |
ORPHA:324422 |
Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... |
ORPHA:324636 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage |
OMIM:603284 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... |
ORPHA:91387 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, 2-3 toe syndactyly, Toe clinodactyly, Cleft palate, Short stature, Hyperextensibil... |
ORPHA:163979 |
Spondyloenchondrodysplasia |
|
Platyspondyly, Delayed eruption of teeth, Chorea, Disproportionate short-trunk short stature, Spa... |
ORPHA:1855 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Asymmetry of spinal facet joints |
OMIM:182940 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short distal phalanx of finger, Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, A... |
OMIM:277450 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Widely spaced teeth, Conical tooth, Broad philtrum, Intrauterine growth retardation |
OMIM:613451 |
Kaposiform Lymphangiomatosis |
|
Abnormality of femur morphology, Bruising susceptibility, Splenomegaly, Anemia, Fractures of the ... |
ORPHA:464329 |
Joubert Syndrome 8 |
|
Hypertonia, Ataxia, Occipital encephalocele, Oculomotor apraxia |
OMIM:612291 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Cerebral hemorrhage, Decreased circulating total IgM, Hepatosple... |
OMIM:301081 |
Acrofacial Dysostosis, Catania Type |
|
Short stature, Spina bifida occulta, Carious teeth, Short palm, Intrauterine growth retardation |
OMIM:101805 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Aspergillosis |
|
Sinusitis, Stroke, Eosinophilia, Intracranial hemorrhage, Abnormal long bone morphology, Neutrope... |
ORPHA:1163 |
Dengue Fever |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Leukopenia, Hypotension, Gingival bleedi... |
ORPHA:99828 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
High palate, Intrauterine growth retardation, Hydrocephalus, Ataxia, Coxa valga, Short stature, C... |
OMIM:619833 |
Meckel Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Dandy-Walker malformation, Microgn... |
ORPHA:564 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Preaxial hand polydactyly, Broad hallux phalanx, Long philtrum, Broad thumb, Exencephaly, Encepha... |
ORPHA:2211 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Kyphosis, Small hand, Abnormality of the dentition, Short philtrum, Thin vermil... |
ORPHA:238750 |
Brain Small Vessel Disease 3 |
|
Spastic tetraplegia, Cerebral hemorrhage |
OMIM:618360 |
Vitamin K Antagonist Embryofetopathy |
|
Short distal phalanx of finger, Myelomeningocele, Hydrocephalus, Macroglossia, Brachydactyly, Pun... |
ORPHA:1914 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Motor stereotypy, High palate, Overjet, Dental crowding, Persistence of primary teeth, Hypodontia... |
OMIM:618342 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Limb Body Wall Complex |
|
Myelomeningocele, Hydrocephalus, Cleft palate, Split foot, Short umbilical cord, Aplasia of the p... |
ORPHA:2369 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... |
ORPHA:31825 |
Cerebral Visual Impairment |
|
Hydrocephalus, Clumsiness, Cerebral palsy, Intracranial hemorrhage, Oculomotor apraxia, Ischemic ... |
ORPHA:447788 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Arteriovenous malformation, High-output congestive heart ... |
ORPHA:90307 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cleft palate, Camptodactyly of finger, Brachydactyly, Finger clinodactyly, Tetralogy of Fallot, C... |
ORPHA:306542 |
Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Paraparesis, Hydrocephalus, Ataxia, Aqueductal stenosis, Opisthotonus, Partial ... |
ORPHA:1136 |
Acrofacial Dysostosis, Palagonia Type |
|
Cleft upper lip, Malar flattening, Short stature, Oligodontia, Scoliosis, Spina bifida occulta at... |
OMIM:601829 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Short stature, Limb hypertonia, Pancytopenia, Cardiomyopathy, Neutropenia,... |
OMIM:606054 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Cleft palate, Abnormal vertebral segmentation and fusion, Multiple renal cysts,... |
ORPHA:66637 |
Isolated Hemihyperplasia |
|
Myelomeningocele, Abnormality of the dentition, Scoliosis |
ORPHA:2128 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia |
OMIM:614171 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Abnormal conus terminalis morphology, Vitreous hemorrhage, Cerebral hemorrhage, Hematemes... |
ORPHA:464321 |
Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Ataxia, Opisthotonus, Syringomyelia, Spina bifida, Agenesis of c... |
OMIM:207950 |
Triopia |
|
Median cleft lip, Encephalocele, Cleft palate |
ORPHA:3374 |
Pagod Syndrome |
|
Short stature, Sudden cardiac death, Multicystic kidney dysplasia, Abnormality of the spleen, Arr... |
ORPHA:991 |
Poland Syndrome |
|
Vertebral segmentation defect, Absent hand, Kyphosis, Abnormal morphology of ulna, Hand polydacty... |
ORPHA:2911 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Hydrocephalus, Narrow mouth, Cleft palate, Holoprosencephaly, Micro... |
ORPHA:2166 |
Hemophilia A |
|
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Cleidocranial Dysplasia |
|
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... |
ORPHA:1452 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cleft upper lip, Hydrocephalus, Cleft palate, Micrognathia, Ventriculomegaly, Meningoencephalocel... |
OMIM:236670 |
Adams-Oliver Syndrome 1 |
|
Cleft upper lip, Aortic valve stenosis, Cleft palate, Pulmonary artery stenosis, Pulmonic stenosi... |
OMIM:100300 |
Rhizomelic Chondrodysplasia Punctata |
|
Growth delay, Short stature, Abnormality of the dentition, Scoliosis, Spina bifida occulta, Rhizo... |
ORPHA:177 |
Menkes Disease |
|
Abnormal palate morphology, Hypertonia, Spontaneous hematomas, Abnormal carotid artery morphology... |
ORPHA:565 |
Triploidy |
|
Wide mouth, Hydrocephalus, Narrow mouth, Cleft palate, Holoprosencephaly, Macroglossia, Micrognat... |
ORPHA:3376 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Anomalous pulmonary venous return, Cleft palate, Short s... |
ORPHA:2311 |
15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Kyphosis, Narrow mouth, Abnormal palate morphology, Abnormality of toe, Short s... |
ORPHA:94065 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Dilated third ventricle, Babinsk... |
ORPHA:363654 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Kyphosis, Wide mouth, Aortic valve stenosis, C... |
OMIM:253010 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Short toe, Clinodactyly of the 5th finger, Everted lower lip vermilion, Pulmonic ste... |
OMIM:617877 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
High palate, Ataxia, Clinodactyly of the 5th finger, Gingival overgrowth, Retrognathia, Lumbar ky... |
OMIM:619422 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Vertebral segmentation defect, Short stature, Hemivertebrae, Unilateral vertebr... |
OMIM:613686 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Hydrocephalus, Ataxia, Stroke, Poor fine motor coordination, Subdural hemor... |
ORPHA:79282 |
Phaver Syndrome |
|
Myelomeningocele, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal fo... |
ORPHA:2876 |
48,Xxyy Syndrome |
|
Motor stereotypy, Ataxia, Clinodactyly of the 5th finger, Taurodontia, Cleft palate, Open bite, S... |
ORPHA:10 |
Congenital Vertical Talus |
|
Myelomeningocele, Equinus calcaneus, Rocker bottom foot |
ORPHA:178382 |
Noonan Syndrome |
|
High palate, Clinodactyly of the 5th finger, Short stature, Abnormal bleeding, Micrognathia, Abno... |
ORPHA:648 |
49,Xxxxy Syndrome |
|
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Taurodontia, Cleft palate, Hol... |
ORPHA:96264 |
Orofaciodigital Syndrome I |
|
High palate, Hydrocephalus, Cleft palate, Ovarian cyst, Lobulated tongue, Hepatic cysts, Carious ... |
OMIM:311200 |
Three M Syndrome 1 |
|
Growth delay, Increased vertebral height, Clinodactyly of the 5th finger, Postnatal growth retard... |
OMIM:273750 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Colpocephaly, Epiphyseal stippling |
OMIM:614870 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Ectrodactyly, Hydrocephalus, High palate, Split foot, Micrognathia, 2-3 finger ... |
ORPHA:2437 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Increased circulating IgG level, Tel... |
ORPHA:284227 |
Carpenter Syndrome 1 |
|
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Hypoplasia of t... |
OMIM:201000 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Thoracic scoliosis, Dysmetria, Short stature, Small hand, Dysdiadochokinesis, Truncal ataxia, Tho... |
OMIM:610185 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage |
ORPHA:98880 |
Muscle-Eye-Brain Disease |
|
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Holoprosencephaly, Meningocele |
ORPHA:588 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Supernumerary tooth, Cleft palate, Holoprosencephaly, Preaxial polydactyly, Po... |
OMIM:615948 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
High palate, Kyphosis, Angina pectoris, Medial calcification of medium-sized arteries, High, narr... |
OMIM:177850 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Hypertonia, Clinodactyly of the 5th finger, Short stature, Glossoptosis, Multicystic kidney dyspl... |
ORPHA:2031 |
Central Neurocytoma |
|
Hydrocephalus, Babinski sign, Abnormal lateral ventricle morphology, Ataxia |
ORPHA:73256 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Arachnodactyly, Retrognathia, Myoclonus, Syndactyly, Thorac... |
OMIM:619092 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Calcification of the small brain vessels, Dysdiadochokinesis, Abnormal pyramidal si... |
OMIM:213600 |
Atypical Rett Syndrome |
|
Kyphosis, Small hand, Hand apraxia, Pill-rolling tremor, Scoliosis, Stereotypical hand wringing, ... |
ORPHA:3095 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Myoclonus, Intraventricular hemorrhage, Scoliosis, Neonatal death, Spastic tetraplegia, Clonus, I... |
OMIM:619055 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Ataxia, Tethered cord, Cherry red spot of the macula, Spastic diplegia, Babinski sign, Spina bifi... |
OMIM:615281 |
3-Methylglutaconic Aciduria, Type Viii |
|
Hypertonia, Tremor, Ventriculomegaly, Neutropenia, Growth delay, Dystonia, Bradycardia |
OMIM:617248 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Intracranial hemorrhage, Athetosis, Spastic paraplegia, Second degree atrioventri... |
ORPHA:369929 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Hypertonia, Bradykinesia, Small hand, Ankle clonus, Abnormal pyramidal sign, Scoliosis,... |
OMIM:617435 |
Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
Distal Monosomy 10Q |
|
High palate, Ataxia, Prominent fingertip pads, Cleft palate, Tapered finger, Sandal gap, Spastici... |
ORPHA:96148 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Scoliosis, Parkinsonism, Tremo... |
ORPHA:521406 |
Pseudo-Torch Syndrome 2 |
|
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Ventriculomegaly, Thrombocytopenia, Bra... |
OMIM:617397 |
Halperin-Birk Syndrome |
|
High palate, Hypertonia, Intrauterine growth retardation, Pseudobulbar paralysis, Micrognathia, S... |
OMIM:618651 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Neutrophilia, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous h... |
ORPHA:99827 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertonia, Short stature, Cerebral artery atherosclerosis, Hyperlordosis, Tremor, Arterial steno... |
ORPHA:1192 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... |
ORPHA:79 |
Hereditary Hemorrhagic Telangiectasia |
|
Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra... |
ORPHA:774 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hemorrhage, Post... |
ORPHA:465 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait ataxia, Agenesis of corpus callosum |
OMIM:610245 |
4H Leukodystrophy |
|
Ataxia, Hypodontia, Dysmetria, Short stature, Abnormality of the dentition, Dysdiadochokinesis, D... |
ORPHA:289494 |
Factor Vii Deficiency |
|
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis |
OMIM:227500 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Short stature, Myoclonus, C... |
OMIM:617284 |
Andersen-Tawil Syndrome |
|
High palate, Periodic paralysis, Abnormality of the dentition, Periodic hypokalemic paresis, Bidi... |
ORPHA:37553 |
Joubert Syndrome 39 |
|
Postaxial polydactyly, Joint contracture of the 5th finger, Polycystic kidney dysplasia, Oculomot... |
OMIM:619562 |
Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... |
ORPHA:64754 |
Hemihyperplasia, Isolated |
|
Myelomeningocele, Scoliosis |
OMIM:235000 |
Fountain Syndrome |
|
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Wide mouth, Gingival overgrowth,... |
ORPHA:3219 |
Lathosterolosis |
|
High palate, Gingival overgrowth, Micrognathia, Myoclonus, Anisopoikilocytosis, Long philtrum, Po... |
ORPHA:46059 |
Lateral Meningocele Syndrome |
|
High palate, Kyphosis, Malar flattening, Short stature, Micrognathia, Scoliosis, Biconcave verteb... |
OMIM:130720 |
Medulloblastoma |
|
Hydrocephalus, Ataxia, Progressive cerebellar ataxia, Dysmetria, Cerebellar hemorrhage, Intention... |
ORPHA:616 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypertonia, Dysplastic corpus callosum, Microretrognathia, Thin vermilion border, Tachycardia, Sc... |
OMIM:619737 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Scoliosis, Hemiparesis, Parkinsonism, Tremor, Lateral ventricle dilatation, Dystonia |
ORPHA:306669 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Kyphosis, High palate, Wide mouth, Colpocephaly, Micrognathia,... |
ORPHA:261250 |
Classic Homocystinuria |
|
High palate, Kyphosis, Arteriovenous malformation, Hemiplegia/hemiparesis, Subcutaneous hemorrhag... |
ORPHA:394 |
Erythrocytosis, Familial, 2 |
|
Stroke, Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red blood cell mass, In... |
OMIM:263400 |
Acrofacial Dysostosis, Palagonia Type |
|
Supernumerary tooth, High, narrow palate, Malar flattening, Short stature, Small hand, Micrognath... |
ORPHA:1787 |
Constricting Bands, Congenital |
|
Cleft upper lip, Cleft palate, Syndactyly, Scoliosis, Hand polydactyly, Encephalocele |
OMIM:217100 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
High palate, Kyphoscoliosis, Ataxia, Bradykinesia, Resting tremor, Small hand, Micrognathia, Babi... |
OMIM:300055 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Roberts-Sc Phocomelia Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Tetraphocomelia, Cleft upper lip, Micrognathia, Abnorma... |
OMIM:268300 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Large iliac wing, High, narrow palate, Cleft palate, Aortic valve stenosis, Retrognathia, Microgn... |
ORPHA:2780 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Arteriovenous malformation, Narrow palate, Subcutaneous hemorrhage, Short statur... |
ORPHA:109 |
Ataxia-Telangiectasia |
|
Telangiectasia of the skin, Ataxia, Lymphopenia, Mucosal telangiectasiae, Short stature, Tremor, ... |
ORPHA:100 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
High palate, Genu valgum, Spasticity, Normal pressure hydrocephalus, Spastic ataxia, Micrognathia... |
ORPHA:300570 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Growth delay, Ataxia, Hypodontia, Dysmetria, Short stature, Intention tremor, Dysdiadochokinesis,... |
OMIM:614381 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... |
OMIM:187300 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Ataxia, Tooth agenesis, Bilateral cleft lip and palate, Non-midline cleft lip, Meningocele, Hip d... |
ORPHA:2003 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Hemiplegia, Ataxia, Metaphyseal sclerosis, Tremor, Genu valgum, Spasticity, Bowing of the long bo... |
OMIM:612199 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Long philtrum, Athetosis, Tremor, Cardiomyopathy,... |
OMIM:617710 |
Vater/Vacterl Association |
|
Intrauterine growth retardation, Tethered cord, Hypoplasia of the radius, Preaxial polydactyly, S... |
OMIM:192350 |
Acrofacial Dysostosis, Catania Type |
|
Clinodactyly of the 5th finger, Tooth agenesis, Microretrognathia, Short stature, Small hand, Abn... |
ORPHA:1786 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Short stature, Tremor, Decreased circulating antibody level, Gro... |
OMIM:617744 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Abnormality of neutrophil physiology, Leukocytosis, Short stature, Polycythemia, Abnor... |
ORPHA:2968 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Tooth agenesis, Cervical platyspondyly, Short philtrum, Scoliosis, Macrodontia, Downturned corner... |
OMIM:618731 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis, Wide mouth, Macroglossia, Short stature, Small hand, Brachydactyly, Tremor, Gait ataxia... |
OMIM:300354 |
Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia, Encephalocele, Patent ductus arteriosus |
OMIM:618458 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, 2-3 toe syndactyly, Scoliosis, Long fingers, Tapered finger, Tremor, Hypoplasia of t... |
OMIM:218000 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Opisthotonus, Abnormal bleeding, Micrognathia, Leukopenia, Myoclonus, Hyperkinetic moveme... |
OMIM:616271 |
Pyruvate Dehydrogenase Deficiency |
|
High palate, Ataxia, Cerebral palsy, Abnormal pyramidal sign, Long philtrum, Osteolytic defects o... |
ORPHA:765 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Mucopolysaccharidosis, Type Vi |
|
Hydrocephalus, Delayed eruption of teeth, Carious teeth, Disproportionate short-trunk short statu... |
OMIM:253200 |
Lateral Meningocele Syndrome |
|
High palate, Kyphosis, Craniofacial hyperostosis, High, narrow palate, Malar flattening, Microgna... |
ORPHA:2789 |
Humero-Radial Synostosis |
|
Meningocele, Aplasia/Hypoplasia of the thumb, Tarsal synostosis |
ORPHA:3265 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Leukopenia, Neutropenia, Thrombocytopenia, Cardiomyopathy |
OMIM:251000 |
Fraser Syndrome 1 |
|
Myelomeningocele, Cleft upper lip, Hydrocephalus, Dental malocclusion, Cleft palate, Wide pubic s... |
OMIM:219000 |
Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Kyphosis, Clinodactyly of the 5th finger, Cleft palate, Short stature, Glossopt... |
ORPHA:1393 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Hypertrophic cardiomyopathy, Sudden cardiac death, Dilated cardiomyopathy,... |
ORPHA:99901 |
Extracranial Carotid Artery Aneurysm |
|
Stroke, Subarachnoid hemorrhage, Hemiparesis, Vasculitis, Cerebral ischemia, Total anomalous pulm... |
ORPHA:494424 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Absent thumb, Short stature, Hypoplasia of the radius, Short 1st... |
OMIM:609053 |
Chromosome 18Q Deletion Syndrome |
|
Cleft palate, Short philtrum, Secretory IgA deficiency, Chorea, Tremor, Umbilical hernia, Rocker ... |
OMIM:601808 |
Superficial Siderosis |
|
Ataxia, Arteriovenous malformation, Persistent bleeding after trauma, Limb ataxia, Dysmetria, Abn... |
ORPHA:247245 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Hydrocephalus, Short stature, Yellow-brown discoloration of th... |
ORPHA:1946 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... |
OMIM:600376 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Hypertonia, Severe postnatal growth retardation, Micrognathia, Myoclonus, Congenital hip dislocat... |
ORPHA:3078 |
Hutchinson-Gilford Progeria Syndrome |
|
High palate, Angina pectoris, Stroke, Impacted tooth, Delayed eruption of teeth, Myocardial infar... |
ORPHA:740 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Congenital thrombocytopenia, Hypertension, Anemia |
OMIM:618886 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Tapered toe, Narrow palate, Arrhythmia, Long fingers, Tapered finger, Polycystic kid... |
OMIM:608836 |
Craniodigital-Intellectual Disability Syndrome |
|
Micrognathia, Spina bifida occulta, Finger syndactyly, Short stature |
ORPHA:1514 |
Gm1 Gangliosidosis |
|
Ataxia, Abnormality of extrapyramidal motor function, Platyspondyly, Tremor, Abnormal epiphysis m... |
ORPHA:354 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
High palate, Kyphoscoliosis, Antenatal intracerebral hemorrhage, Subdural hemorrhage, Cerebral he... |
ORPHA:536545 |
Joubert Syndrome 21 |
|
Oculomotor apraxia, Renal cyst, Occipital encephalocele, Ataxia |
OMIM:615636 |
Acrocraniofacial Dysostosis |
|
Short distal phalanx of finger, Short stature, Flared iliac wing, Partial duplication of the dist... |
ORPHA:949 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Diastomatomyelia, Meningocele |
ORPHA:1759 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Bruising susceptibility, Arrhythmia, Spina bifida occulta, Gastrointestinal hemorrhage, P... |
ORPHA:230839 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
High palate, Ataxia, Dysmetria, Limb hypertonia, Dilated fourth ventricle, Athetosis, Tremor, Thi... |
ORPHA:572798 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Kyphoscoliosis, Stroke, Resting tremor, Short stature, Parkinsonism, Tremor, Lower limb spasticit... |
ORPHA:3077 |
22Q11.2 Deletion Syndrome |
|
Hydrocephalus, Cleft palate, Abnormality of the dentition, Short philtrum, Impaired T cell functi... |
ORPHA:567 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Impaired collagen-induced platelet aggregation, Decreased circulating antibody... |
OMIM:604928 |
Caudal Duplication |
|
Myelomeningocele, Vertebral segmentation defect, Bifid sacrum, Spina bifida, Spinal cord lesion |
ORPHA:1756 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... |
ORPHA:275872 |
Waardenburg Syndrome Type 1 |
|
Cleft upper lip, Cleft palate, Scoliosis, Tented upper lip vermilion, Meningocele, Mandibular pro... |
ORPHA:894 |
Fraser Syndrome |
|
Myelomeningocele, Vertebral segmentation defect, High palate, Cleft upper lip, Dental malocclusio... |
ORPHA:2052 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Ataxia, Abnormal pyramidal sign, Incoordination, Spina bifida occulta, Tremor, Oculomotor apraxia... |
OMIM:618060 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cleft palate, Short philtrum, Furrowed tongue, Tented upper lip vermilion, Spasticity, Mandibular... |
ORPHA:464738 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Hypoplastic pelvis, Spina bifida occulta, Hip dislocation, Slender long bone |
ORPHA:2840 |
Witteveen-Kolk Syndrome |
|
High palate, Branchial fistula, Short philtrum, Open mouth, Intrauterine growth retardation, Thic... |
OMIM:613406 |
Knobloch Syndrome |
|
Occipital encephalocele, Hydrocephalus, Patent ductus arteriosus |
ORPHA:1571 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Paraparesis, Ataxia, Leukopenia, Macrocytic anemia, Tetraparesis, Choreoathetosis, Anemia, Thromb... |
ORPHA:27 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Hypodontia, Dysmetria, Short stature, Intention tremor, Babinski ... |
ORPHA:397946 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Intrauterine growth retardation, Radial bowing, High, narrow p... |
ORPHA:2879 |
Osteogenesis Imperfecta, Type Xvii |
|
Short stature, Intraventricular hemorrhage, Platyspondyly, Scoliosis, Thin metacarpal cortices, V... |
OMIM:616507 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Leg dystonia, Ankle clonus, Limb hypertonia, Babinski sign, Scoliosis, Prominent calcaneus, Later... |
ORPHA:565624 |
Frontofacionasal Dysplasia |
|
Cleft upper lip, Malar flattening, Bifid uvula, Oral cleft, Cranium bifidum occultum, Hypoplasia ... |
OMIM:229400 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Ataxia, Spina bifida occulta, Patent ductus arteriosus, Ventriculomegaly, ... |
OMIM:267750 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Microdontia, Colpocephaly, Agenesis of corpus callosum, Dilation of V... |
OMIM:619955 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Neuronal Intranuclear Inclusion Disease |
|
Hypertonia, Ataxia, Scoliosis, Abnormal form of the vertebral bodies, Spina bifida occulta |
ORPHA:2289 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Kyphosis, Ataxia, Scoliosis, Tremor |
ORPHA:99014 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Paraparesis, High palate, Ataxia, Long philtrum, Spasticity, Open mouth, Thin upper lip vermilion |
OMIM:617854 |
Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... |
ORPHA:726 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Ataxia, Neutropenia in presence of ant... |
OMIM:613179 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... |
OMIM:612736 |
Familial Hyperaldosteronism Type I |
|
Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:403 |
Posterior Meningocele |
|
Occipital meningocele, Hypertonia, Hydrocephalus, Tethered cord, Upper limb spasticity, Neural tu... |
ORPHA:268810 |
Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Hypertension, Intracranial hemorrhage, Prolonged QT interval |
ORPHA:251274 |
Familial Hyperaldosteronism Type Ii |
|
Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:404 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Petechiae, Hematemesis, Leukocytosis, Palpitations, Tachycardia, Intracranial hemorrhage,... |
ORPHA:340 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele |
ORPHA:3456 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Transient ischemic attack, Neutrophilia, Leukocytosis, Splenomegaly,... |
ORPHA:3260 |
Mosaic Trisomy 1 |
|
Wide mouth, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Complete duplication of thu... |
ORPHA:1692 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Hypodontia, Dysmetria, Short stature, Oligodontia, Babinski sign, Tremor, Spasticity, Del... |
OMIM:607694 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Cleft palate, Malar flattening, Short stature, Spina bifida occulta, Abnormal di... |
OMIM:268850 |
Kohlschutter-Tonz Syndrome-Like |
|
Ataxia, Delayed eruption of teeth, Carious teeth, Tremor, Yellow-brown discoloration of the teeth... |
OMIM:619229 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Severe short stature, Cleft palate, Scoliosis, Spina bifida occult... |
ORPHA:1797 |
Trisomy 8Q |
|
Myelomeningocele, High palate, Cleft palate, Everted lower lip vermilion, Micrognathia, Camptodac... |
ORPHA:1752 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Kyphosis, High palate, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Dent... |
OMIM:617061 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Narrow mouth, Short stature, Thin vermilion border, Short philtrum, Sc... |
OMIM:617360 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Ataxia, Tapered finger, Tremor, Mandibular prognathia, Intrauterine growth retardation, Clinodact... |
OMIM:300998 |
Joubert Syndrome 5 |
|
Ataxia, Renal cortical cysts, Cleft palate, Oculomotor apraxia, Occipital encephalocele |
OMIM:610188 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Cleft palate, Intraventricular hemorrhage, Stomatitis, Glossitis, Neutropen... |
ORPHA:79284 |
Viss Syndrome |
|
High palate, Tortuous cerebral arteries, Aortic tortuosity, Pulmonary artery aneurysm, Genu valgu... |
OMIM:619472 |
Acrocallosal Syndrome |
|
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Tapered finger, Bifid di... |
OMIM:200990 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... |
OMIM:610655 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... |
OMIM:615157 |
48,Xxxy Syndrome |
|
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Taurodontia, Cleft palate, Ope... |
ORPHA:96263 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Limb hypertonia, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Colpocephaly |
ORPHA:401815 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis, Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis... |
OMIM:105550 |
Bilateral Generalized Polymicrogyria |
|
Motor stereotypy, Growth delay, Short stature, Oculogyric crisis, Lateral ventricle dilatation, S... |
ORPHA:208447 |
Acute Liver Failure |
|
Hepatocellular necrosis, Ataxia, Bruising susceptibility, Abnormal bleeding, Intracranial hemorrh... |
ORPHA:90062 |
Craniofacial Microsomia |
|
Wide mouth, Hydrocephalus, Cleft palate, Hemivertebrae, Maxillozygomatic hypoplasia, Genu valgum,... |
OMIM:164210 |
Orofaciodigital Syndrome Type 1 |
|
High palate, Ataxia, Cleft palate, Abnormality of the dentition, Cone-shaped epiphysis, Lobulated... |
ORPHA:2750 |
Ataxia-Telangiectasia |
|
Ataxia, Progressive cerebellar ataxia, Tremor, Leukemia, Slurred speech, Decreased circulating Ig... |
OMIM:208900 |
Slc35A2-Cdg |
|
Intrauterine growth retardation, Short stature, Short tibia, Aplasia/hypoplasia involving bones o... |
ORPHA:356961 |
Cockayne Syndrome Type 3 |
|
Kyphosis, Stroke, Premature coronary artery atherosclerosis, Subdural hemorrhage, Splenomegaly, I... |
ORPHA:90324 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Hip dysplasia, Scoliosis |
OMIM:302802 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hydrocephalus, Prominent fingertip pads, Open mouth, Calcaneovalgus deformity, Scoliosis, Hyperlo... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hydrocephalus, Prominent fingertip pads, Open mouth, Calcaneovalgus deformity, Scoliosis, Hyperlo... |
ORPHA:363958 |
Riddle Syndrome |
|
Decreased circulating IgA level, Ataxia, Clumsiness, Decreased circulating IgG level, Short statu... |
ORPHA:420741 |
Ataxia With Vitamin E Deficiency |
|
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... |
ORPHA:96 |
Hellp Syndrome |
|
Cerebral hemorrhage, Hypotension, Hemolytic anemia, Decreased mean corpuscular hemoglobin concent... |
ORPHA:244242 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Dandy-Walker malformation, Scoliosis, Agenesis of corpus callosum, Spina bifida occulta |
OMIM:618736 |
Weiss-Kruszka Syndrome |
|
Clinodactyly of the 5th finger, Dextrotransposition of the great arteries, Ventriculomegaly, Exag... |
OMIM:618619 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... |
OMIM:605714 |
White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Spina bifida occulta, Deep philtrum, Abnormal palate morphology, ... |
ORPHA:2475 |
Dubowitz Syndrome |
|
High palate, Wide mouth, Hydrocephalus, Abnormality of the dentition, Delayed eruption of teeth, ... |
ORPHA:235 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Short stature, Oculogyric crisis, Scoliosis, Chorea, Lateral ventricle dilatati... |
ORPHA:178469 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Dysmetria, Short stature, Dilated fourth ventricle, Tremor, Gait ataxia, Spasticity, Poor... |
ORPHA:1170 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... |
OMIM:607483 |
Oculodentodigital Dysplasia |
|
Paraparesis, Ataxia, Cleft palate, Microdontia, Carious teeth, Spasticity, Selective tooth agenes... |
OMIM:164200 |
Malan Overgrowth Syndrome |
|
High palate, Narrow mouth, Scoliosis, Slender long bone, Lateral ventricle dilatation, Ventriculo... |
ORPHA:420179 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... |
OMIM:171420 |
Lathosterolosis |
|
Myelomeningocele, High palate, Thick upper lip vermilion, Butterfly vertebrae, Gingival overgrowt... |
OMIM:607330 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Delayed eruption of teeth, Pericardial lymphangiectasia, Umbil... |
OMIM:235510 |
Arthrogryposis, Distal, Type 2A |
|
High palate, Kyphoscoliosis, Narrow mouth, Postnatal growth retardation, Pursed lips, Malar flatt... |
OMIM:193700 |
Khan-Khan-Katsanis Syndrome |
|
Hypertonia, Intrauterine growth retardation, Triangular mouth, Tricuspid regurgitation, Postaxial... |
OMIM:618460 |
Hydranencephaly |
|
Postnatal growth retardation, Opisthotonus, Abnormal internal carotid artery morphology, Spastic ... |
ORPHA:2177 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand tremor, Dysmetria, Babinski sign, Frequent falls, Tremor, Incoordination |
OMIM:302800 |
Gluteal Muscles, Absence Of |
|
Scoliosis, Spina bifida occulta |
OMIM:231970 |
Craniosynostosis 6 |
|
Dandy-Walker malformation, Scoliosis, Agenesis of corpus callosum, Spina bifida occulta |
OMIM:616602 |
Osteopathia Striata With Cranial Sclerosis |
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High palate, Hydrocephalus, Cleft palate, Thick lower lip vermilion, Cleft upper lip, Clinodactyl... |
OMIM:300373 |
Corticobasal Syndrome |
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Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... |
ORPHA:454887 |
Hereditary Pheochromocytoma-Paraganglioma |
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Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Prader-Willi Syndrome Due To Translocation |
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High palate, Wide mouth, Cleft palate, Clinodactyly of the 4th finger, Carious teeth, Intrauterin... |
ORPHA:177907 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Paraparesis, Hepatosplenomegaly, Pulmonary hemorrhage, Hemiparesis, T lymphocytopenia, Pancytopen... |
ORPHA:79124 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
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Hypertonia, Micrognathia, Myoclonus, Lateral ventricle dilatation, Spastic tetraparesis, Intraute... |
ORPHA:284417 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Impaired platelet aggregation, Iron deficiency anemia |
OMIM:618372 |
Pelvis-Shoulder Dysplasia |
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Short clavicles, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Short stature, Hypoplastic... |
OMIM:169550 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
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Torticollis, Ataxia, Myelopathy, Rigidity, Tetraparesis, Tremor, Ventriculomegaly, Cervical myelo... |
OMIM:617186 |
Sprengel Deformity |
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Hemivertebrae, Cervical segmentation defect, Scoliosis, Spina bifida occulta |
OMIM:184400 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
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Kyphosis, Thin vermilion border, Short philtrum, Spina bifida occulta, Downturned corners of mout... |
ORPHA:2983 |
Marfan Syndrome |
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Cleft palate, Aortic tortuosity, High, narrow palate, Retrognathia, Micrognathia, Scoliosis, Pulm... |
ORPHA:558 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
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Mitral stenosis, Wide mouth, Short stature, Coarctation of aorta, Deep philtrum, Renal cyst, Pate... |
OMIM:617260 |
Spondylosis, Cervical |
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Cervical spondylosis, Spina bifida occulta |
OMIM:184300 |
Spinal Arteriovenous Metameric Syndrome |
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Paraparesis, Kyphoscoliosis, Arteriovenous malformation, Spinal arteriovenous malformation, Abnor... |
ORPHA:53721 |
Polyrrhinia |
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Lateral ventricle dilatation, Abnormal third ventricle morphology, Oral cleft |
ORPHA:141091 |
Alagille Syndrome |
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Short distal phalanx of finger, Vertebral segmentation defect, Telangiectasia of the skin, Clinod... |
ORPHA:52 |
Dpagt1-Cdg |
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Hypertonia, Ataxia, Stereotypical body rocking, Arachnodactyly, Intracranial hemorrhage, Scoliosi... |
ORPHA:86309 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:231625 |
Smith-Lemli-Opitz Syndrome |
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Dental crowding, Hydrocephalus, Cleft palate, Broad alveolar ridges, Hammertoe, Hip subluxation, ... |
OMIM:270400 |
Incontinentia Pigmenti |
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Telangiectasia of the skin, Delayed eruption of teeth, Spasticity, Umbilical hernia, Scoliosis, P... |
ORPHA:464 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
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Hypertonia, Subdural hemorrhage, Short stature, Mandibular prognathia, Thin upper lip vermilion, ... |
OMIM:619714 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
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Growth delay, Ataxia, Microretrognathia, Intention tremor, Long philtrum, Neonatal death, Arrhyth... |
OMIM:614052 |
Loeys-Dietz Syndrome 3 |
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High palate, Tortuous cerebral arteries, Cleft palate, Aortic tortuosity, Subarachnoid hemorrhage... |
OMIM:613795 |
Autosomal Recessive Spastic Paraplegia Type 25 |
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Paraparesis, Cervical spondylosis, Spastic paraplegia |
ORPHA:101005 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemiplegia, Hydrocephalus, Cerebral hemorrhage, Corneal neovascularization, Babinski sign, Facial... |
OMIM:175780 |
Cach Syndrome |
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Dysmetria, Limb ataxia, Spastic diplegia, Hepatosplenomegaly, Truncal ataxia, Hemiparesis, Latera... |
ORPHA:135 |
Joubert Syndrome 1 |
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Ataxia, Macroglossia, Hemifacial spasm, Postaxial hand polydactyly, Renal cyst, Triangular-shaped... |
OMIM:213300 |
Hypermanganesemia With Dystonia 2 |
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Oromandibular dystonia, Clumsiness, Bradykinesia, Opisthotonus, Ankle clonus, Babinski sign, Scol... |
OMIM:617013 |
Wolfram Syndrome 1 |
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Megaloblastic anemia, Ataxia, Limited mobility of proximal interphalangeal joint, Thrombocytopeni... |
OMIM:222300 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
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Short stature, Spina bifida occulta, Slender long bone, Downturned corners of mouth, Thick vermil... |
ORPHA:1185 |
O'Sullivan-Mcleod Syndrome |
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Increased circulating antibody level, Eosinophilia, Atrophy of the spinal cord, Tremor, Fascicula... |
ORPHA:99965 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Ataxia, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, ... |
ORPHA:79243 |
Aicardi-Goutières Syndrome |
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Neonatal alloimmune thrombocytopenia, Extrapyramidal muscular rigidity, Abnormality of extrapyram... |
ORPHA:51 |
Holoprosencephaly 13, X-Linked |
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Double outlet right ventricle, Butterfly vertebrae, Alobar holoprosencephaly, Median cleft palate... |
OMIM:301043 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Hydrocephalus, Abnormality of the sphenoid sinus, Intracranial hemorrhage |
ORPHA:91350 |
Tibial Hemimelia |
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Cleft palate, Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Absent hallux, Poly... |
ORPHA:93322 |
Isotretinoin Syndrome |
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Micrognathia, Cleft palate, Spina bifida occulta |
ORPHA:2305 |
Glycogen Storage Disease Ii |
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Wolff-Parkinson-White syndrome, Right axis deviation, Macroglossia, Splenomegaly, Subarachnoid he... |
OMIM:232300 |
Zimmermann-Laband Syndrome 1 |
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High palate, Wide mouth, Short philtrum, Delayed eruption of teeth, Aortic root aneurysm, Umbilic... |
OMIM:135500 |
Craniorachischisis |
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Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum |
ORPHA:63260 |
Focal Dermal Hypoplasia |
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Hydrocephalus, Cleft palate, Congenital hip dislocation, Delayed eruption of teeth, Umbilical her... |
OMIM:305600 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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High palate, Abnormal subclavian artery morphology, Carious teeth, Broad hallux, Intrauterine gro... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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High palate, Abnormal subclavian artery morphology, Carious teeth, Broad hallux, Intrauterine gro... |
ORPHA:353277 |
Paget Disease Of Bone 2, Early-Onset |
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Sandwich appearance of vertebral bodies, Paraparesis, Premature loss of teeth, Short femur, Femor... |
OMIM:602080 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Motor stereotypy, Kyphosis, High palate, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Erup... |
ORPHA:476126 |
3Mc Syndrome 1 |
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Cleft upper lip, Growth delay, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft pala... |
OMIM:257920 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Motor stereotypy, High palate, Ataxia, Contracture of the proximal interphalangeal joint of the 4... |
ORPHA:457279 |
Rubinstein-Taybi Syndrome 1 |
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High palate, Dental crowding, Prominent fingertip pads, Cleft palate, Broad hallux, Hypoplasia of... |
OMIM:180849 |
Congenital Disorder Of Glycosylation, Type Ia |
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Kyphosis, Ataxia, Decreased circulating IgA level, Decreased circulating IgG level, Dysmetria, In... |
OMIM:212065 |
Bartter Syndrome, Type 2, Antenatal |
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Impaired platelet aggregation, Low-to-normal blood pressure, Short stature |
OMIM:241200 |
Chediak-Higashi Syndrome |
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Ataxia, Periodontitis, Hemophagocytosis, Splenomegaly, Bruising susceptibility, Abnormal dense gr... |
OMIM:214500 |
Cockayne Syndrome A |
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Ataxia, Square pelvis bone, Carious teeth, Hypoplastic pelvis, Tremor, Mandibular prognathia, Hyp... |
OMIM:216400 |