| Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... |
OMIM:273800 |
| Glanzmann Thrombasthenia 2 |
|
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Abnormal bleeding, Bruising susceptibility, ... |
OMIM:619267 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... |
OMIM:618462 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Dk Phocomelia Syndrome |
|
Encephalocele, Thrombocytopenia, Phocomelia |
OMIM:223340 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Giant platelets, Leukocyte inclusion bodie... |
OMIM:155100 |
| Platelet Signal Processing Defect |
|
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... |
OMIM:173590 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Dandy-Walker malformation, Encephalocele, Cleft palate |
ORPHA:217 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Hypoplasia of the maxilla, Anterior basal encephalocele, Clinodactyly, ... |
OMIM:136760 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Retrognathia, Intrauterine growth retardation, Trident pelvis, Kyphoscol... |
OMIM:614815 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Epistaxis, Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-indu... |
OMIM:614201 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal cerebral vascular morphology, Moyamoya phenomenon, Abnormal platelet aggregation, Stroke... |
ORPHA:401945 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Impaired ADP-indu... |
OMIM:615888 |
| Cocaine Embryofetopathy |
|
Short distal phalanx of finger, Encephalocele, Hypertonia |
ORPHA:1911 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... |
OMIM:619271 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,... |
OMIM:609821 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Spinal dysraphism, Finger syndactyly, Tetralogy of Fallot, Intrauterine gr... |
ORPHA:1908 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Ecchy... |
OMIM:614009 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... |
OMIM:620486 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Limb myoclonus, Myelomeningocele, Partial agenesis of the corpus callosu... |
ORPHA:101030 |
| Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, Intrauterine growth retarda... |
ORPHA:2117 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... |
ORPHA:231393 |
| Athrombia, Essential |
|
Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggrega... |
OMIM:209050 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Ventriculomegaly, Orofacial cleft, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Aortic aneurysm, Patent ductus arteriosus, Frontal encephalocele |
ORPHA:261102 |
| Joubert Syndrome 14 |
|
Ataxia, Growth delay, Open mouth, Encephalocele, Malar flattening, Tented upper lip vermilion, Po... |
OMIM:614424 |
| Hermansky-Pudlak Syndrome 3 |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Spontaneous, recurrent epistaxis, ... |
OMIM:614072 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Postaxial polydactyly type A, Encephalocele |
ORPHA:1003 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Occipital encephalocele |
OMIM:213010 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... |
OMIM:124900 |
| Pallister-Hall-Like Syndrome |
|
Postaxial foot polydactyly, Toe syndactyly, Occipital encephalocele, Microglossia, Micrognathia, ... |
OMIM:241800 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Ataxia... |
ORPHA:2585 |
| Joubert Syndrome 16 |
|
Oculomotor apraxia, Encephalocele, Dandy-Walker malformation, Polydactyly |
OMIM:614465 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Ventriculomegaly, Kyphosis, Encephalocele, Brachydactyly, Hydrocephalus, Short sta... |
ORPHA:93274 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Spasticity, Leukopenia, Encephalocele, Splenomegaly, Hydrocephalus, ... |
ORPHA:381 |
| Meckel Syndrome 13 |
|
Micrognathia, Oculomotor apraxia, Occipital encephalocele, Ataxia |
OMIM:617562 |
| Bernard-Soulier Syndrome |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platelets, Pr... |
OMIM:231200 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... |
OMIM:187800 |
| Enlarged Parietal Foramina |
|
Broad thumb, Occipital encephalocele, Cleft lip, Myelomeningocele, Venous malformation, Abnormal ... |
ORPHA:60015 |
| Absent Eyebrows And Eyelashes With Impaired Intellectual Development |
|
Progressive spastic quadriplegia, Encephalocele |
OMIM:200130 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 3rd toe, Downturned corners of mouth, Oligodactyly, Intrauterine growth retar... |
ORPHA:521308 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Gastrointestinal hemorrhage, Arteriovenous malformation, Finger s... |
ORPHA:974 |
| Glanzmann Thrombasthenia |
|
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... |
ORPHA:849 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Severe short stature, Neonatal short-limb short stature, Broad long bones, Micrognathia, Encephal... |
OMIM:224400 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Petechiae, Autoimmune hemolytic anemia, Abs... |
OMIM:619374 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Agenesis of corpus callosum, Orbital encephalocele, Cleft palate, Dan... |
OMIM:164180 |
| Oculoauriculofrontonasal Syndrome |
|
Cleft lip, Micrognathia, Narrow mouth, Encephalocele, Broad philtrum, Scoliosis, Cleft palate |
ORPHA:398156 |
| Parietal Foramina 1 |
|
Cleft palate, Encephalocele, Cleft upper lip |
OMIM:168500 |
| Lissencephaly 5 |
|
Spastic paraplegia, Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
| Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of the long bones, Dandy-Walk... |
OMIM:603194 |
| Parietal Foramina 3 |
|
Encephalocele |
OMIM:609566 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Micrognathia, Open mouth, Encephalocele, Irregular dentition, Agenesis of corpus... |
OMIM:619148 |
| Joubert Syndrome 9 |
|
Ventriculomegaly, Oculomotor apraxia, Scoliosis, Encephalocele |
OMIM:612285 |
| Von Willebrand Disease, Type 3 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... |
OMIM:277480 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
| Meckel Syndrome, Type 4 |
|
Intrauterine growth retardation, Encephalocele, Bowing of the long bones, Hydrocephalus, Dandy-Wa... |
OMIM:611134 |
| Parietal Foramina 2 |
|
Encephalocele |
OMIM:609597 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... |
OMIM:615193 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Cleft upper lip, Hemiparesis, Hydrocephalus, Intracranial hemorrhage, Cleft palate, Abnormal mast... |
ORPHA:398189 |
| Joubert Syndrome 7 |
|
Ataxia, Genu valgum, Encephalocele, Postaxial polydactyly, Oculomotor apraxia, Postaxial hand pol... |
OMIM:611560 |
| Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... |
OMIM:618734 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Cleft upper lip, Encephalocele, Polydactyly, Cleft palate |
OMIM:613885 |
| Thrombocytopenia 9 |
|
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
| Coach Syndrome 1 |
|
Ataxia, Spasticity, Occipital encephalocele, Growth delay, Wide mouth, Portal hypertension, Encep... |
OMIM:216360 |
| Distal Deletion 13Q |
|
Abnormal form of the vertebral bodies, Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal m... |
ORPHA:1590 |
| Lissencephaly 8 |
|
Ventriculomegaly, Occipital encephalocele, Appendicular spasticity |
OMIM:617255 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Lumbar hyperlordosis, Dilated fourth v... |
ORPHA:370959 |
| Meckel Syndrome, Type 10 |
|
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Dilated fourth ventricle, Posta... |
OMIM:614175 |
| Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Agenesis of corpus callosum |
OMIM:218670 |
| Pseudoprogeria Syndrome |
|
Short stature, Cranium bifidum occultum, Progressive spastic quadriplegia, Growth delay |
ORPHA:2985 |
| Dural Sinus Malformation |
|
Ataxia, Myelopathy, Subdural hemorrhage, Abnormal facial vein morphology, Tetraparesis, Poor coor... |
ORPHA:97339 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Anisospondyly, Occipital encephalocele, Disproportionate short-limb short s... |
OMIM:224410 |
| Leber Congenital Amaurosis |
|
Encephalocele, Hemiplegia/hemiparesis |
ORPHA:65 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Tremor, Agenesis of corpus callosum, Hand polydactyly, Oculomotor apraxia, Orofaci... |
ORPHA:220497 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Congenital hip dislocation, Ventriculomegaly, Kyphosis, Subdural hemorrhage, Lateral ventricle di... |
OMIM:618291 |
| Joubert Syndrome With Ocular Defect |
|
Abnormal vertebral morphology, Encephalocele, Tremor, Agenesis of corpus callosum, Hand polydacty... |
ORPHA:220493 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Short tibia, Encephalocele, Flat acetabular roof, Patent ductus arteriosus, Cleft li... |
OMIM:616300 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Increased RBC... |
OMIM:187900 |
| Brain Small Vessel Disease 2 |
|
Ventriculomegaly, Hemiplegia, Intracranial hemorrhage, Growth delay, Spastic tetraplegia |
OMIM:614483 |
| Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... |
OMIM:193400 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Abnormality of the dentition, Conical tooth, Intrauterine growth retardation, Encephalocele, Agen... |
ORPHA:228390 |
| Atelosteogenesis, Type I |
|
Radial bowing, Fibular aplasia, Micrognathia, Encephalocele, Neonatal death, Aplasia/Hypoplasia o... |
OMIM:108720 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:153670 |
| Meckel Syndrome, Type 9 |
|
Occipital encephalocele |
OMIM:614209 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Hypoplastic ilia, Anisospondyly, Broad long bones, Clubbing of fingers, Mic... |
ORPHA:1865 |
| Sneddon Syndrome |
|
Hemiplegia, Lymphopenia, Ischemic stroke, Tremor, Stroke, Cerebral hemorrhage, Decreased circulat... |
OMIM:182410 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate, Bilateral cle... |
OMIM:601357 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Epistaxis, Impaired collagen-induced platelet aggregation, Bruising susceptibility, Acute monocyt... |
OMIM:601399 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Ventriculomegaly, Patellar hypoplasia, Preaxial foot polydactyly... |
ORPHA:1827 |
| Von Willebrand Disease |
|
Epistaxis, Gastrointestinal hemorrhage, Deviation of finger, Bruising susceptibility, Abnormality... |
ORPHA:903 |
| Schisis Association |
|
Unilateral cleft lip, Encephalocele, Spina bifida, Anencephaly, Cleft palate |
ORPHA:63862 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Narrow mouth, Encep... |
ORPHA:90652 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Joubert Syndrome |
|
Abnormal form of the vertebral bodies, Encephalocele, Tremor, Hand polydactyly, Oculomotor apraxi... |
ORPHA:475 |
| Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Tetraparesis, Transient ischemic attack, Hemiparesis, Stroke, Paralysis, Par... |
ORPHA:140989 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
| Snakebite Envenomation |
|
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Pseudobulbar par... |
ORPHA:449285 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Oligodactyly, Arachnodactyly, Occipital encephalocele, Humeroradial synostosis |
OMIM:614416 |
| Familial Cervical Artery Dissection |
|
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... |
ORPHA:36382 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... |
OMIM:617443 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormality of the dentition, Disproportionate short stature, Abnormal epiphysis morphology, Scol... |
ORPHA:2501 |
| Gray Platelet Syndrome |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire... |
OMIM:139090 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly, Kinetic tremor, Tremor |
OMIM:611808 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Clinodactyly, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased plat... |
OMIM:603585 |
| Hermansky-Pudlak Syndrome 7 |
|
Epistaxis, Bruising susceptibility, Prolonged bleeding after dental extraction, Persistent bleedi... |
OMIM:614076 |
| Sneddon Syndrome |
|
Chorea, Arterial stenosis, Tremor, Hemiparesis, Intracranial hemorrhage, Hypertension |
ORPHA:820 |
| Frontorhiny |
|
Cranium bifidum occultum, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger... |
ORPHA:391474 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Micrognathia, Con... |
ORPHA:397715 |
| Joubert Syndrome 15 |
|
Ataxia, Oculomotor apraxia, Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, P... |
OMIM:611561 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... |
OMIM:605735 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Dandy-Walker mal... |
OMIM:607361 |
| Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... |
ORPHA:79329 |
| Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Congenital Factor Ii Deficiency |
|
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... |
ORPHA:325 |
| Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Bilateral coxa valga, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Limb dystonia... |
OMIM:620270 |
| Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Coarctation of aorta, Ethmoidal encephalocele |
ORPHA:280195 |
| Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Polysplenia, Tetralogy of Fallot, Abnormal tibia morphology, En... |
ORPHA:1335 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
| Pai Syndrome |
|
Bifid uvula, Encephalocele, Median cleft upper lip, Abnormal oral frenulum morphology, Cleft palate |
ORPHA:1993 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Carious teeth, Periodontitis, Enlarged platelet dense granules... |
OMIM:608233 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spasticity, Hemiplegia, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial s... |
ORPHA:136 |
| Quebec Platelet Disorder |
|
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... |
OMIM:601709 |
| Fetal Gaucher Disease |
|
Stillbirth, Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Hypertonia, Hi... |
ORPHA:85212 |
| Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Lissencephaly 4 |
|
Agenesis of corpus callosum, Babinski sign, Colpocephaly, Hypertonia, Short stature, Growth delay |
OMIM:614019 |
| Mirage Syndrome |
|
Radial club hand, Lymphopenia, Intrauterine growth retardation, Overlapping fingers, Paraplegia, ... |
OMIM:617053 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... |
ORPHA:906 |
| Duplication Of The Pituitary Gland |
|
Retrognathia, Encephalocele, Thoracic scoliosis, Agenesis of corpus callosum, Lower limb spastici... |
ORPHA:314621 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Arachnoid Cyst |
|
Enlarged fossa interpeduncularis, Tetraparesis, Encephalocele, Hemiparesis, Subarachnoid hemorrha... |
ORPHA:2356 |
| Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, Cleft upper lip, Median cleft palate, Encephalocele, Agenesis of corp... |
OMIM:264480 |
| Bernard-Soulier Syndrome |
|
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Spont... |
ORPHA:274 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
High, narrow palate, Broad proximal phalanges of the hand, Cleft upper lip, Ethmoidal encephaloce... |
OMIM:607597 |
| Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... |
ORPHA:3002 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Encephalocele, Agenesis of corpus callosum, Transposition of the great ar... |
OMIM:253800 |
| Holoprosencephaly |
|
Spasticity, Abnormality of the spleen, Encephalocele, Arrhythmia, Holoprosencephaly, Tetralogy of... |
ORPHA:2162 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Cerebral hemorrhage, Tremor, Stroke, Abnormal pyramidal sign, Ataxia, Dystonia |
ORPHA:542310 |
| Neurocutaneous Melanocytosis |
|
Ventriculomegaly, Hemiparesis, Meningocele, Intracranial hemorrhage, Dandy-Walker malformation |
ORPHA:2481 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Hand polydactyly, Hydrocephalus, Ataxia, Foot polydactyly, Scoliosis |
ORPHA:2318 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... |
ORPHA:853 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,... |
ORPHA:3226 |
| Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, High palate, Adva... |
OMIM:618363 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Hypophosphatasia, Infantile |
|
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Abnormality of the dentition, Di... |
OMIM:241500 |
| Cerebrooculonasal Syndrome |
|
Narrow palate, Ventriculomegaly, Downturned corners of mouth, Long philtrum, Postnatal growth ret... |
OMIM:605627 |
| Hermansky-Pudlak Syndrome 5 |
|
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Thrombocytopenia, ... |
OMIM:614074 |
| Treacher-Collins Syndrome |
|
Open bite, Micrognathia, Narrow mouth, Encephalocele, High palate, Patent ductus arteriosus, Blep... |
ORPHA:861 |
| Joubert Syndrome With Hepatic Defect |
|
Ataxia, Occipital encephalocele, Portal hypertension, Splenomegaly, Tremor, Orofacial cleft, Ocul... |
ORPHA:1454 |
| Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Absent vertebra, Myelomeningocele, Narrow mouth, Encephalocele, Or... |
ORPHA:63259 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Micrognathia, Encephalocele, Humeroradial synostosis, Agenesis of corpus callosum... |
OMIM:134780 |
| Meckel Syndrome, Type 1 |
|
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Natal tooth, Large placenta, M... |
OMIM:249000 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Occipital encephalocele, Microretrognathia, Retrognathia, Tricuspid r... |
OMIM:619879 |
| Hermansky-Pudlak Syndrome 11 |
|
Gingival bleeding, Epistaxis, Bruising susceptibility, Reduced platelet dense granules, Impaired ... |
OMIM:619172 |
| Congenital Factor V Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... |
ORPHA:326 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... |
ORPHA:231160 |
| Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Retrognathia, Long philtrum, Moyamoya phenomenon, Ischemic stroke, Corona... |
ORPHA:280679 |
| Frontofacionasal Dysplasia |
|
Short stature, Cleft palate, Encephalocele, Non-midline cleft of the upper lip |
ORPHA:1791 |
| Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Joint hemorrhage, Abnormal bleeding, Subdural hem... |
ORPHA:169805 |
| Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... |
ORPHA:331 |
| Joubert Syndrome 2 |
|
Postaxial foot polydactyly, Enlarged fossa interpeduncularis, Encephalocele, Oculomotor apraxia, ... |
OMIM:608091 |
| Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
| Abeta Amyloidosis, Iowa Type |
|
Stroke, Myoclonus, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324708 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... |
ORPHA:90065 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Spasticity, Dilated third ventricle, Lateral ventricle dilatation, Everted lower lip vermilion, F... |
OMIM:620371 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Poor motor coordination, Ventriculomegaly, Subdural hemorrhage, Chorea, Limb dystonia, Tremor, Ri... |
ORPHA:25 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Ventriculomegaly, Retrognathia, Encephalocele, Hydrocephalus, Adducted thumb, Partial agenesis of... |
OMIM:614643 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Ventriculomegaly, Cleft upper lip, Encephalocele, Agenesis of corpus callosum, Hydrocephalus, Mac... |
OMIM:613150 |
| Severe Hemophilia A |
|
Epistaxis, Gastrointestinal hemorrhage, Joint hemorrhage, Prolonged bleeding following circumcisi... |
ORPHA:169802 |
| Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Bruising susceptibility... |
ORPHA:49042 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Small hand, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Retrognathia, Long... |
OMIM:300845 |
| Sitosterolemia 1 |
|
Stomatocytosis, Abnormal bleeding, Giant platelets, Reticulocytosis, Splenomegaly, Coronary arter... |
OMIM:210250 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Intrauterine growth retardation, Abnormal lateral ventricle morphology, Gait ataxia, Hypermobilit... |
ORPHA:488635 |
| Menkes Disease |
|
Metaphyseal spurs, Intrauterine growth retardation, Babinski sign, Metaphyseal widening, Hyperton... |
OMIM:309400 |
| Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm... |
OMIM:263300 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
| Pseudohypoparathyroidism Type 1A |
|
Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Involuntary move... |
ORPHA:79443 |
| Chédiak-Higashi Syndrome |
|
Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal... |
ORPHA:167 |
| Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... |
ORPHA:887 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Paralysis, Cerebral hemorrhage |
OMIM:603285 |
| Osteogenesis Imperfecta |
|
Carious teeth, Aortic root aneurysm, Tetraparesis, Abnormal tibia morphology, Enlarged vertebral ... |
ORPHA:666 |
| Abetal34V Amyloidosis |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324703 |
| Acromelic Frontonasal Dysostosis |
|
Ventriculomegaly, Dilation of Virchow-Robin spaces, Short tibia, Patellar hypoplasia, Preaxial ha... |
OMIM:603671 |
| Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... |
ORPHA:98879 |
| Autoerythrocyte Sensitization Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Abno... |
ORPHA:324636 |
| Alg13-Cdg |
|
Clumsiness, Abnormal lateral ventricle morphology, Adducted thumb, Long philtrum |
ORPHA:324422 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... |
ORPHA:284388 |
| Wyburn-Mason Syndrome |
|
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... |
ORPHA:53719 |
| Acquired Purpura Fulminans |
|
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Intrac... |
ORPHA:49566 |
| Aspergillosis |
|
Increased circulating IgE level, Abnormal long bone morphology, Stroke, Eosinophilia, Neutropenia... |
ORPHA:1163 |
| Hermansky-Pudlak Syndrome 8 |
|
Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ... |
OMIM:614077 |
| Tarp Syndrome |
|
Subdural hemorrhage, Clinodactyly, Athetosis, Tetralogy of Fallot, Intrauterine growth retardatio... |
OMIM:311900 |
| Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage |
OMIM:603284 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... |
OMIM:613225 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... |
OMIM:300835 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Pulmonary embolism, Hemiplegia, Venous insufficiency, Hemiparesis, Ar... |
ORPHA:624 |
| Joubert Syndrome 8 |
|
Oculomotor apraxia, Occipital encephalocele, Hypertonia, Ataxia |
OMIM:612291 |
| Frontonasal Dysplasia 2 |
|
Conical tooth, Widely spaced teeth, Intrauterine growth retardation, Encephalocele, Broad philtrum |
OMIM:613451 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Meckel Syndrome, Type 6 |
|
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Hydrocephalus, Postaxial ha... |
OMIM:612284 |
| Periventricular Nodular Heterotopia 1 |
|
Clinodactyly, Short finger, Stroke, Cerebral hemorrhage, Patent ductus arteriosus, Syndactyly |
OMIM:300049 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Short distal phalanx of finger, Abnormal bleeding, Bruising susceptibility, Epiphyseal... |
OMIM:277450 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Broad thumb, Finger syndactyly, Long philtrum, Preaxial hand polydactyly, Encephalocele, Exenceph... |
ORPHA:2211 |
| Propionic Acidemia |
|
Cardiomyopathy, Pancytopenia, Cerebellar hemorrhage, Anemia, Limb hypertonia, Neutropenia, Thromb... |
OMIM:606054 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Spasticity, Ventriculomegaly, Incoordination, Intrauterine growth retardation, Colpocephaly, Clon... |
OMIM:616034 |
| Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Conical tooth, Hepatosplenomegaly, Complete or near-complete abs... |
OMIM:301081 |
| Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:94080 |
| Dengue Fever |
|
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... |
ORPHA:99828 |
| Unilateral Ocular Duplication |
|
Median cleft upper lip, Encephalocele, Cleft palate |
ORPHA:3374 |
| Methanol Poisoning |
|
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... |
ORPHA:31825 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Fractures of the long bones, Abnormal form... |
ORPHA:464329 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Short 5th finger, Toe clinodactyly, Bulbous tips of toes, 2-3 toe syndac... |
ORPHA:163979 |
| Isovaleric Acidemia |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia |
OMIM:243500 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Small hand, Gait ataxia, Intention tremor, Dysmetria, Thoracic scoliosis, Tremor, Ataxia, Short s... |
OMIM:610185 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Umbilical hernia, Micrognathia, Narrow mouth, Encephalocele, Orofac... |
ORPHA:2166 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Finger clino... |
ORPHA:306542 |
| Spinocerebellar Ataxia 40 |
|
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... |
OMIM:616053 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Arachnodactyly, Carotid artery dilatation, Paten... |
ORPHA:91387 |
| Noonan Syndrome |
|
Postnatal growth retardation, Abnormality of the spleen, Micrognathia, Radioulnar synostosis, Arr... |
ORPHA:648 |
| Cerebral Visual Impairment |
|
Cerebral palsy, Ischemic stroke, Clumsiness, Oculomotor apraxia, Hydrocephalus, Intracranial hemo... |
ORPHA:447788 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Limb Body Wall Complex |
|
Progressive congenital scoliosis, Cleft lip, Broad hallux, Myelomeningocele, Aplasia of the proxi... |
ORPHA:2369 |
| Spondyloenchondrodysplasia |
|
Spasticity, Pancytopenia, Disproportionate short-trunk short stature, Metaphyseal dysplasia, Auto... |
ORPHA:1855 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus |
OMIM:614195 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Reduced natural killer cell count, Cutaneous abscess, Cerebral vasculitis, Increased circulating ... |
OMIM:243700 |
| Meckel Syndrome |
|
Accessory spleen, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand pol... |
ORPHA:564 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Ventriculomegaly, Occipital encephalocele, Cleft upper lip, Micrognathia, Agenesis of corpus call... |
OMIM:236670 |
| Poland Syndrome |
|
Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Acute leu... |
ORPHA:2911 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... |
ORPHA:464321 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ataxia, Ventriculomegaly, Cerebral palsy, Intrauterine growth retardation, Micrognathia, Tented u... |
OMIM:619833 |
| 4Q21 Microdeletion Syndrome |
|
Abnormality of the dentition, Small hand, Toe syndactyly, Scoliosis, Downturned corners of mouth,... |
ORPHA:238750 |
| Stormorken Syndrome |
|
Epistaxis, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, ... |
OMIM:185070 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Constricted iliac wing, Carious teeth, Genu valgum, Mitral regurgitation, ... |
OMIM:253010 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Ventriculomegaly, Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primar... |
OMIM:618342 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... |
OMIM:615157 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Lateral ventricle dilatation, Petechiae, Bradycardia, Thrombocytopenia, Cerebra... |
OMIM:617397 |
| Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Bruising susceptibility, Impaired arachidonic acid-induced platelet aggregation, Impai... |
OMIM:614075 |
| Parkes Weber Syndrome |
|
Arteriovenous malformation, Myelopathy, Vascular tortuosity, Abnormal bleeding, Abnormal femoral ... |
ORPHA:90307 |
| Band Heterotopia |
|
Ventriculomegaly, Spasticity, Lateral ventricle dilatation, Agenesis of corpus callosum, Hydrocep... |
OMIM:600348 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Spasticity, Spontaneous hematomas, Umbilical hernia, Intrauterine gr... |
ORPHA:565 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Ventriculomegaly, Toe syndactyly, Cleft upper lip, Tetralogy of Fallot, En... |
OMIM:100300 |
| Factor Vii Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... |
OMIM:227500 |
| Orofaciodigital Syndrome Xiv |
|
Cleft lip, Occipital encephalocele, Broad hallux, Natal tooth, Preaxial polydactyly, Hamartoma of... |
OMIM:615948 |
| Holoprosencephaly 5 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... |
OMIM:609637 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Abnormal metacarpal mo... |
ORPHA:1452 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level, Abnormal bl... |
OMIM:604928 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Ventriculomegaly, Retrognathia, Long philtrum, Micrognathia, Agenesis of cor... |
OMIM:620156 |
| Pagod Syndrome |
|
Pulmonary artery hypoplasia, Abnormality of the spleen, Encephalocele, Abnormal aortic morphology... |
ORPHA:991 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intrauterine growth retardation, Myoclonus, Neonatal death, Intraventricular hemorrhage, Clonus, ... |
OMIM:619055 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
High, narrow palate, Gastrointestinal hemorrhage, Medial calcification of large arteries, High pa... |
OMIM:177850 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Calcification of the small brain vessels, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par... |
OMIM:213600 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Epiphyseal stippling, Neonatal death |
OMIM:614870 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia, Scoliosis |
ORPHA:306669 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Spasticity, Lateral ventricle dilatation, Long philtrum, Myoclonus, Open mouth, High palate, Dyst... |
OMIM:617854 |
| 48,Xxyy Syndrome |
|
Ataxia, Broad jaw, Ventriculomegaly, Carious teeth, Delayed eruption of teeth, Thick lower lip ve... |
ORPHA:10 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Arterial stenosis, Cerebral artery atherosclerosis, Tremor, Coronary artery atherosclerosis, Anem... |
ORPHA:1192 |
| Joubert Syndrome 39 |
|
Postaxial polydactyly, Oculomotor apraxia, Occipital encephalocele, Joint contracture of the 5th ... |
OMIM:619562 |
| Andersen-Tawil Syndrome |
|
Small hand, Polymorphic and polytopic ventricular extrasystoles, Periodic hypokalemic paresis, To... |
ORPHA:37553 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Small hand, Shallow acetabular fossae, Giant platelets, Lateral ventricle dilatation, Postnatal g... |
OMIM:611209 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Telangiectasia, Increased circulating IgG level, Intracranial... |
ORPHA:284227 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Dilated third ventricle, Resting tremor, Lateral ventricle dilat... |
ORPHA:363654 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Intrauterine growth retardation,... |
ORPHA:79282 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Spastic paraplegia, Second degree atrioventricular block, Cerebral palsy, Pulmonary ar... |
ORPHA:369929 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Encephalocele, Chronic sinusitis, Splenomegaly, Oculomotor apraxia, Ataxia |
OMIM:615636 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ventriculomegaly, Cardiomyopathy, Long philtrum, Intrauterine growth retardation, Dysmetria, Trem... |
OMIM:617710 |
| Familial Afibrinogenemia |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage |
ORPHA:98880 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... |
OMIM:133100 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... |
ORPHA:79 |
| Constricting Bands, Congenital |
|
Cleft upper lip, Encephalocele, Hand polydactyly, Scoliosis, Cleft palate, Syndactyly |
OMIM:217100 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Pancytopenia, Neutrophilia, Tachycardia, Purpura, Diffuse alveolar hemorrhage,... |
ORPHA:99827 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Epistaxis, Gastrointestinal hemorrhage, Post-partum hemorrhage, Prolonged bleeding after dental e... |
ORPHA:465 |
| Vater/Vacterl Association |
|
Abnormal vertebral morphology, Occipital encephalocele, Short thumb, Preaxial polydactyly, Tetral... |
OMIM:192350 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Spasticity, Thin upper lip vermilion, Smooth philtrum, Fetal intraventricular hemorrhage, Limb hy... |
OMIM:618480 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Lateral ventricle dilatation, Hand tremor, Babinski sign, Apraxia, Ataxia, Dystonia |
OMIM:615889 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Dental crowding, Sub... |
ORPHA:394 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Cerebral hemorrhage, Increased hematocrit, Increased red blood cell mass, Stroke, In... |
OMIM:263400 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Cerebral palsy, Umbilical hernia, Retrognathia, Lateral ventricle dilatation, Microgn... |
OMIM:618914 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Spasticity, Abnormal bleeding, Congestive heart failure, Intrauterine growth retardat... |
OMIM:616271 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Small hand, Spastic tetraplegia, Resting tremor, Micrognathia, High palate, T... |
OMIM:300055 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Carious teeth, Hypoplastic iliac wing, Genu valgum, Mitral regurgitation, D... |
OMIM:253200 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Carious teeth, Facial paralysis, Mandibular osteomyelitis, Extramedullary ... |
OMIM:259710 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Carious teeth, Pulmonary embolism, Abnormal epiphysis morphology, Delayed ... |
ORPHA:96264 |
| Central Neurocytoma |
|
Babinski sign, Abnormal lateral ventricle morphology, Hydrocephalus, Ataxia |
ORPHA:73256 |
| Medulloblastoma |
|
Dysmetria, Cerebellar hemorrhage, Hydrocephalus, Ataxia, Cerebellar ataxia associated with quadru... |
ORPHA:616 |
| Roberts-Sc Phocomelia Syndrome |
|
Clinodactyly, Hyperplasia of the maxilla, Postnatal growth retardation, Micrognathia, Abnormal me... |
OMIM:268300 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... |
OMIM:612736 |
| Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Overlapping toe, U-Shaped upper lip vermilion, Patent duct... |
OMIM:601808 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Dysdiadochokinesis, Natal tooth, Delayed eruption of teeth, Gait ataxia, Intention tr... |
OMIM:614381 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Ventriculomegaly, Osteolytic defects of the middle phalanx of the 4th toe, Cerebral p... |
ORPHA:765 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... |
ORPHA:99901 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Narrow palate, Broad thumb, Arteriovenous malformation, Long philtrum, Subcutaneous hemorrhage, M... |
ORPHA:109 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Tetraparesis, Leukopenia, Macrocytic anemia, Paraparesis, Thrombocytopenia, Ataxi... |
ORPHA:27 |
| Amelocerebrohypohidrotic Syndrome |
|
Spasticity, Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogene... |
ORPHA:1946 |
| Halperin-Birk Syndrome |
|
Hip dislocation, Semilobar holoprosencephaly, Ventriculomegaly, Umbilical hernia, Pseudobulbar pa... |
OMIM:618651 |
| Distal Deletion 10Q |
|
Spasticity, Clinodactyly, Lateral ventricle dilatation, Postnatal growth retardation, Micrognathi... |
ORPHA:96148 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Ventriculomegaly, Microretrognathia, Hypoplasia of the zygomatic bone, Intraventricular hemorrhag... |
OMIM:613603 |
| Knobloch Syndrome 2 |
|
Patent ductus arteriosus, Micrognathia, Enamel hypoplasia, Encephalocele |
OMIM:618458 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Small hand, Prominent fingertip pads, Sandal gap, Long philtrum, Tricuspid r... |
OMIM:612863 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... |
OMIM:187300 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... |
ORPHA:726 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Ataxia, Scoliosis, Kyphosis |
ORPHA:99014 |
| Congenital Hydrocephalus |
|
Ventriculomegaly, Colpocephaly, Hydrocephalus |
ORPHA:2185 |
| Fraser Syndrome 1 |
|
Dental malocclusion, Dental crowding, Cleft upper lip, Myelomeningocele, Cutaneous finger syndact... |
OMIM:219000 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Kyphoscoliosis, Bowed humerus... |
OMIM:616507 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occulta, Scoliosis, Dandy... |
OMIM:618736 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Spasticity, Ventriculomegaly, Occipital encephalocele, Agenesis of corpus callosum, Hydrocephalus... |
OMIM:615287 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B... |
ORPHA:397946 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Cerebral hemorrhage, Anemia, Hypertension |
OMIM:618886 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Congestive heart failure, Tremor, Kyphoscoliosis, Stroke, Parkinsonism, Lower lim... |
ORPHA:3077 |
| Witteveen-Kolk Syndrome |
|
Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Overlapping toe, Narrow mou... |
OMIM:613406 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ankyloglossia, Micrognathia, Short lingual frenulum, Mitral regurgitation,... |
ORPHA:740 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr... |
OMIM:605714 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia, Neutropenia |
OMIM:251000 |
| Gm1 Gangliosidosis |
|
Spasticity, Cherry red spot of the macula, Hepatosplenomegaly, Narrow mouth, Ataxia, Mandibular p... |
ORPHA:354 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Dilated cardiomyopathy, Increased mean corpuscular volume, Long philtrum, Micro... |
ORPHA:261250 |
| Frontofacionasal Dysplasia |
|
Bifid uvula, Cranium bifidum occultum, Hypoplasia of the frontal bone, Cleft upper lip, Malar fla... |
OMIM:229400 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Downturned corners of mouth, Tooth agenesis, Cervical platyspondyly, Macrodontia, Colpocephaly, S... |
OMIM:618731 |
| Extracranial Carotid Artery Aneurysm |
|
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... |
ORPHA:494424 |
| Weaver Syndrome |
|
Spasticity, Broad thumb, Clinodactyly, Lateral ventricle dilatation, Hypoplastic iliac wing, Over... |
OMIM:277590 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Small hand, Spasticity, Carious teeth, Lateral ventricle dilatation, Ataxia, Short foot, Yellow-b... |
OMIM:619229 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Neonatal deat... |
OMIM:620300 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Spina bifida occulta... |
OMIM:618060 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Congenital kyphoscoliosis, Subdural hemorrhage, Bruising susceptibili... |
ORPHA:536545 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Clubbing, Polycythemia, Facial tela... |
OMIM:600376 |
| Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Abnormality of the dentition, ... |
ORPHA:2968 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation, Oligodontia, Thin upper lip vermilion, Short stature, Patent ductus... |
OMIM:618330 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:276621 |
| Knobloch Syndrome 1 |
|
Ventriculomegaly, Occipital encephalocele, Ataxia, Spina bifida occulta, Occipital meningocele, P... |
OMIM:267750 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Intestinal bleeding, Spasticity, Postnatal growth retardation, Genu valgum, Bowing of the long bo... |
OMIM:612199 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Ventriculomegaly, Downturned corners of mouth, Lateral ventricle dilatation, Dilated fourth ventr... |
OMIM:613443 |
| Knobloch Syndrome |
|
Hydrocephalus, Occipital encephalocele, Patent ductus arteriosus |
ORPHA:1571 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Tapered toe, Dilated cardiomyopathy, Ventriculomegaly, Agenesis of corpus callosum... |
OMIM:608836 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Spasticity, Dilation of Virchow-Robin spaces, Lateral ventricle dilatation, Tented upper lip verm... |
OMIM:619517 |
| Superficial Siderosis |
|
Enlarged sylvian cistern, Abnormal bleeding, Arteriovenous malformation, Limb ataxia, Abnormal ve... |
ORPHA:247245 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Camptodactyly of finger, Overlapping toe, Camptodactyly, Short stat... |
OMIM:619420 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Scoliosis, Hip dysplasia |
OMIM:302802 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Retrognathia, Postnatal growth retardation, Intrauterine growth retardation, Clinodactyly of the ... |
OMIM:620113 |
| Craniometadiaphyseal Dysplasia |
|
Wide anterior fontanel, Mandibular prognathia, Carious teeth, Natal tooth, Absent paranasal sinus... |
OMIM:269300 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ... |
OMIM:208900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Narrow mouth, Lumbar scolios... |
OMIM:300998 |
| Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Swelling of p... |
ORPHA:3260 |
| Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Hypotension, Involuntary movements, Aortic dissection, Prolonged QRS... |
ORPHA:90068 |
| Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Spina bifida occulta, Scoliosis, Dandy... |
OMIM:616602 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Ventriculomegaly, Long philtrum, Smooth philtrum, Intraventricular hemorrhage, Short stature, Syn... |
OMIM:616430 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lateral ventricle dilatation, Frequent falls, Dextrotransposition of the great arteries, Ankle cl... |
OMIM:619995 |
| Fraser Syndrome |
|
Toe syndactyly, Dental malocclusion, Finger syndactyly, Dental crowding, Umbilical hernia, Myelom... |
ORPHA:2052 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:403 |
| Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Increased circulating Ig... |
OMIM:619472 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Small hand, Spasticity, Lateral ventricle dilatation, Postnatal growth retardation, Partial agene... |
ORPHA:300570 |
| Hemorrhagic Fever-Renal Syndrome |
|
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Leukocytosis, Petechiae,... |
ORPHA:340 |
| Joubert Syndrome 5 |
|
Oculomotor apraxia, Occipital encephalocele, Cleft palate, Ataxia |
OMIM:610188 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity... |
OMIM:607483 |
| Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:404 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... |
OMIM:606693 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intrauterine growth retardation, Intraventricular hemorrhage, Megaloblastic anemia, Neutropenia, ... |
ORPHA:79284 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Involuntary movements, Lateral ventricle dilatation, Intrauterine growth retardation, Leg dystoni... |
ORPHA:565624 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Spasticity, Lateral ventricle dilatation, Dilated fourth ventricle, M... |
ORPHA:3078 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function, Babinski sign, Parkin... |
ORPHA:275872 |
| Bilateral Generalized Polymicrogyria |
|
Spasticity, Oculogyric crisis, Lateral ventricle dilatation, Eyelid myoclonus, Paroxysmal dyskine... |
ORPHA:208447 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Spasticity, Dilated third ventricle, Finger syndactyly, Clinodactyly, Lateral ventricle dilatatio... |
ORPHA:464738 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Involuntary movements, Lateral ventricle dilatation, Tented upper lip vermilion, Thin upper lip v... |
OMIM:615716 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Carious teeth, Pulmonary embolism, Abnormal epiphysis morphology, Delayed ... |
ORPHA:96263 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ventriculomegaly, Lateral ventricle dilatation, Cardiomyopathy, Intrauterine growth retardation, ... |
ORPHA:572798 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Absent thumb, Short 1st metacarpal, Short thumb, Intrauterine growth... |
OMIM:609053 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Micrognathia, Overlapping fingers, Rocker bottom foot, Lateral ventricle dilatation |
OMIM:618266 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
| Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Postn... |
OMIM:200990 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Intrauterine growth retardation, Micrognathia, Myoclonus, Hypertoni... |
ORPHA:284417 |
| Ataxia With Vitamin E Deficiency |
|
Hypertrophic cardiomyopathy, Dysmetria, Hemiplegia/hemiparesis, Tremor, Arrhythmia, Abnormal pyra... |
ORPHA:96 |
| Cockayne Syndrome Type 3 |
|
Vascular calcification, Carious teeth, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy,... |
ORPHA:90324 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Lateral ventricle dilatation, Umbilical hernia, Intrauterine growth retardation, Dilated fourth v... |
OMIM:617751 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Hand tremor, Incoordination, Dysmetria, Tremor, Babinski sign, Paraparesis, Frequent falls |
OMIM:302800 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventriculomegaly, Prominent fingertip pads, Cardiomyopathy, Postnatal growth retardation, Speech ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Ventriculomegaly, Prominent fingertip pads, Cardiomyopathy, Postnatal growth retardation, Speech ... |
ORPHA:363958 |
| Riddle Syndrome |
|
Decreased circulating IgG level, Poor hand-eye coordination, Decreased circulating IgA level, Rec... |
ORPHA:420741 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Tongue fasciculations, Lateral ventricle dilatation, Hand tremor, Fasciculations, Limb ataxia, At... |
OMIM:607596 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Genu valgum, Micrognathia, Agenesis of corpus callosum, Maxillozygomatic... |
OMIM:164210 |
| Hellp Syndrome |
|
Hypotension, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin concentrati... |
ORPHA:244242 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Progressive spastic paraplegia, Colpocephaly, Lower limb spasticity, Limb hypertonia, Spastic gait |
ORPHA:401815 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Cerebral vas... |
OMIM:613179 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dilation of Virchow-Robin spaces, Agenesis of corpus callosum, Dysplastic corpus callosum, Microd... |
OMIM:619955 |
| Oculodentodigital Dysplasia |
|
Spasticity, Carious teeth, Clinodactyly, Tetraparesis, Joint contracture of the 5th finger, Arrhy... |
OMIM:164200 |
| Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
| Developmental And Epileptic Encephalopathy 31B |
|
Involuntary movements, Ventriculomegaly, Gingival overgrowth, Myoclonus, Protruding tongue, Appen... |
OMIM:620352 |
| Adams-Oliver Syndrome 2 |
|
Lateral ventricle dilatation, Micrognathia, Absent distal phalanges, Limb hypertonia, Hydrocephal... |
OMIM:614219 |
| Orofaciodigital Syndrome I |
|
Carious teeth, Clinodactyly, Ankyloglossia, Agenesis of corpus callosum, High palate, Syndactyly,... |
OMIM:311200 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Panhypogammaglobulinemia, Pulmonary hemorrhage, Paraplegi... |
ORPHA:79124 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... |
OMIM:610655 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Spastic paraplegia, Paraparesis, Cervical spondylosis |
ORPHA:101005 |
| Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... |
ORPHA:454887 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
| Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Lateral ventricle dilatation,... |
ORPHA:356961 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... |
ORPHA:29072 |
| Hereditary Hemorrhagic Telangiectasia |
|
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... |
ORPHA:774 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Open bite, Micrognathia, Agenesis of corpus callosum, Ataxia, Foot polydactyly... |
ORPHA:2750 |
| Cach Syndrome |
|
Spasticity, Lateral ventricle dilatation, Intrauterine growth retardation, Limb ataxia, Hepatospl... |
ORPHA:135 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
| Glutamine Deficiency, Congenital |
|
Lateral ventricle dilatation, Neonatal death, Bradycardia, Camptodactyly, Subependymal cysts, Thi... |
OMIM:610015 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Wide mouth, Lateral ventricle dilatation, Short palm |
OMIM:300982 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ventriculomegaly, Absent thumb, Lateral ventricle dilatation, Bowed forearm bones, Vascular dilat... |
OMIM:602200 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Intraute... |
ORPHA:79243 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Lateral ventricle dilatation, Thick upper lip vermilion, Macrodontia, Gait ataxia, Thin upper lip... |
OMIM:618606 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cervical myelopathy, Ventriculomegaly, Myelopathy, Tetraparesis, Tremor, Rigidity, Torticollis, A... |
OMIM:617186 |
| Dpagt1-Cdg |
|
Clinodactyly, Stroke-like episode, Tremor, Arachnodactyly, Anemia, Camptodactyly, Hypertonia, Ata... |
ORPHA:86309 |
| 1P31P32 Microdeletion Syndrome |
|
Moyamoya phenomenon, Ventriculomegaly, Intraventricular hemorrhage |
ORPHA:401986 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension |
ORPHA:231625 |
| Hydranencephaly |
|
Ventriculomegaly, Postnatal growth retardation, Intrauterine growth retardation, Abnormal interna... |
ORPHA:2177 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Clubbing of toes, Mandibular prognathia, Dental crowding, Retrognathia, Slender long bones with n... |
OMIM:620083 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb... |
OMIM:114290 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation, Long philtrum, Thick lower lip vermilion, Tented upper lip vermilio... |
OMIM:620075 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Orofacial cleft, Lateral ventricle dilatation |
ORPHA:141091 |
| Khan-Khan-Katsanis Syndrome |
|
Ventriculomegaly, Clinodactyly, Tricuspid regurgitation, Lymphopenia, Intrauterine growth retarda... |
OMIM:618460 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Tetraparesis, Apraxia, Parkinsonism, Paraparesis, Extrapyramidal dyskinesia |
OMIM:105550 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Growth delay, Long philtrum, Umbilical hernia, Hypertrophic cardiomyopathy, In... |
OMIM:614052 |
| Mosaic Trisomy 1 |
|
Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Agenesis of corpus callosum, Arachno... |
ORPHA:1692 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Subdural hemorrhage, Thoracic scoliosis, Cerebral hemorrhage, High palate, Mandibular prognathia |
OMIM:620278 |
| Wolfram Syndrome 1 |
|
Limited mobility of proximal interphalangeal joint, Cardiomyopathy, Sideroblastic anemia, Stroke-... |
OMIM:222300 |
| Malan Overgrowth Syndrome |
|
Ventriculomegaly, Slender long bone, Lateral ventricle dilatation, Episodic ataxia, Narrow mouth,... |
ORPHA:420179 |
| Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Dextrotransposition of the great arteries, Exaggerated cupid's bow, Agenesis of... |
OMIM:618619 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sandwich appearance of vertebral bodies, Tetraparesis, Femoral bowin... |
OMIM:602080 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Spasticity, Dilation of Virchow-Robin spaces, Facial paralysis, Tetraparesis, Retinal arteriolar ... |
OMIM:175780 |
| Spinal Arteriovenous Metameric Syndrome |
|
Arteriovenous malformation, Congestive heart failure, Spinal arteriovenous malformation, Kyphosco... |
ORPHA:53721 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Subdural hemorrhage, Intrauterine growth retardation, Thin upper lip vermilion, Hypertonia, Short... |
OMIM:619714 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Progressive spasticity, Tented upper lip vermilion, Lateral ventricle dilatation, Long philtrum |
OMIM:619972 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Lateral ventricle dilatation, Cerebral palsy, Limb dystonia, Myoclonus, Opisthotonus,... |
OMIM:619847 |
| Glycogen Storage Disease Ii |
|
Sinus tachycardia, Dilatation of the cerebral artery, Splenomegaly, Shortened PR interval, Subara... |
OMIM:232300 |
| Cerebrotendinous Xanthomatosis |
|
Spasticity, Spastic paraparesis, Myelopathy, Premature coronary artery atherosclerosis, Abnormali... |
ORPHA:909 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitation, Intervertebral disk ... |
OMIM:613795 |
| Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Abnormality of the dentition, Sandal gap, Lateral ventricle d... |
OMIM:617557 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Lateral ventricle dilatation, Micrognathia,... |
OMIM:210710 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Abnormality of the sphenoid sinus, Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... |
OMIM:606159 |
| Cockayne Syndrome A |
|
Carious teeth, Square pelvis bone, Hypoplastic iliac wing, Hip contracture, Delayed eruption of p... |
OMIM:216400 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Intrauterine growth retardation, Epiphyseal stippl... |
OMIM:614866 |
| Rift Valley Fever |
|
Gingival bleeding, Abnormal bleeding, Hemiparesis, Paralysis, Anemia, Paraparesis, Hematemesis, T... |
ORPHA:319251 |
| Aicardi-Goutieres Syndrome 9 |
|
Spasticity, Spastic tetraplegia, Lateral ventricle dilatation, Lower limb hypertonia, Intrauterin... |
OMIM:619487 |
| Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Subdural hemorrhage |
OMIM:615368 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, High, narrow palate, Bruising susceptibility, Clinodactyly, Long philtrum, ... |
OMIM:619745 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Hyperlordosis, Torticollis, Hypertoni... |
OMIM:128100 |
| Bartter Syndrome, Type 2, Antenatal |
|
Short stature, Low-to-normal blood pressure, Impaired platelet aggregation |
OMIM:241200 |
| Alexander Disease |
|
Ataxia, Hypotension, Scoliosis, Spasticity, Chorea, Tremor, Agenesis of corpus callosum, Abnormal... |
ORPHA:58 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Kyphoscoliosis, Rigidity... |
ORPHA:99750 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis |
ORPHA:231445 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Lateral ventricle dilatation, Myoclonus, Babinski sign, Apraxia |
OMIM:221770 |
| Acute Liver Failure |
|
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Inco... |
ORPHA:90062 |
| Chediak-Higashi Syndrome |
|
Periodontitis, Bruising susceptibility, Hemophagocytosis, Leukopenia, Giant neutrophil granules, ... |
OMIM:214500 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Long philtrum, Lateral ventricle dilatation, Tented upper lip vermilion, Dystonia, ... |
OMIM:614105 |
| Prader-Willi Syndrome Due To Translocation |
|
Small hand, Carious teeth, Clinodactyly, Lateral ventricle dilatation, Overlapping toe, Micrognat... |
ORPHA:177907 |
| Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Overlapping toe, Micrognathia, Ventricular fibrillation, Holoprosence... |
OMIM:270400 |
| Glutaric Acidemia I |
|
Lateral ventricle dilatation, Rigidity, Opisthotonus, Hydrocephalus, Dystonia, Choreoathetosis, S... |
OMIM:231670 |
| Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Congestive heart failure, Chorea, Limb ataxia, Gait ataxia,... |
ORPHA:48818 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Lateral ventricle dilatation, Decreased circulating IgA level, S... |
OMIM:612301 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... |
OMIM:618877 |
| Meningioma |
|
Ataxia, Hemifacial spasm, Abnormal central motor function, Hemiparesis, Syncope, Neoplasm of the ... |
ORPHA:2495 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Short tibia, Finger syndactyly, Velopharyngeal insufficiency, Micrognathia, Broad fi... |
ORPHA:2751 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Lateral ventricle dilatation, Cardiomyopathy, Micrognathia, Subependymal cysts |
OMIM:600721 |
| Helsmoortel-Van Der Aa Syndrome |
|
Small hand, Carious teeth, Lateral ventricle dilatation, Ankyloglossia, Genu valgum, Mitral regur... |
OMIM:615873 |
| Acute Transverse Myelitis |
|
Spasticity, Paraplegia, Abscess, Abnormality of extrapyramidal motor function, Subarachnoid hemor... |
ORPHA:139417 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... |
OMIM:600116 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Spastic paraplegia, Dilated third ventricle, Dental crowding, Lateral ventricle dilatation, Parti... |
OMIM:617296 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Postnatal growth ret... |
ORPHA:3472 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les... |
ORPHA:363618 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Open mouth, Oculomotor apraxia, A... |
OMIM:608629 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Short stature, Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage |
ORPHA:100006 |
| Paganini-Miozzo Syndrome |
|
Downturned corners of mouth, Lateral ventricle dilatation, Malar flattening, Thin vermilion borde... |
OMIM:301025 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dilated third ventricle, Lateral ventricle dilatation, Long philtrum, Tented upper lip vermilion,... |
OMIM:619244 |
| Cog5-Cdg |
|
Retrognathia, Finger clinodactyly, Camptodactyly of finger, Lateral ventricle dilatation, Intraut... |
ORPHA:263487 |
| Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... |
OMIM:171300 |
| Holoprosencephaly 13, X-Linked |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Thoracic hemivertebrae, Micrognathia, Butt... |
OMIM:301043 |
| Cockayne Syndrome B |
|
Severe short stature, Mandibular prognathia, Carious teeth, Square pelvis bone, Kyphosis, Dental ... |
OMIM:133540 |
| Bainbridge-Ropers Syndrome |
|
Growth delay, Retrognathia, Dental crowding, Lateral ventricle dilatation, Intrauterine growth re... |
OMIM:615485 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Increased circulating antibody level, Conj... |
OMIM:606002 |
| Aicardi Syndrome |
|
Block vertebrae, Dilated third ventricle, Lateral ventricle dilatation, Cleft upper lip, Postnata... |
OMIM:304050 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Ventriculomegaly, Mitral stenosis, Agenesis of corpus callosum, Smooth philtrum, Coarctation of a... |
OMIM:617260 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Spasticity, Dilation of Virchow-Robin spaces, Retrognathia, Dilated third ventricle,... |
ORPHA:544488 |
| Farber Disease |
|
Spasticity, Short toe, Short finger, Cherry red spot of the macula, Hepatosplenomegaly, Myoclonus... |
ORPHA:333 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal epiphysis morphology, Bruising susceptibility, Delayed eruption of teeth, Premature loss... |
ORPHA:667 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Lateral ventricle dilatation, Long philtrum, Submucous cleft hard pal... |
ORPHA:457279 |
| Aicardi-Goutières Syndrome |
|
Spasticity, Spastic paraparesis, Neonatal alloimmune thrombocytopenia, Moyamoya phenomenon, Hepat... |
ORPHA:51 |
| X-Linked Intellectual Disability, Wilson Type |
|
Growth delay, Lateral ventricle dilatation, Wide mouth, Thick vermilion border, Mandibular progna... |
ORPHA:85290 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Postnatal growth retardation, Mic... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Postnatal growth retardation, Mic... |
ORPHA:353277 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Communicating hydroce... |
OMIM:615219 |
| Acys Amyloidosis |
|
Stroke, Cerebral amyloid angiopathy, Cerebral hemorrhage |
ORPHA:100008 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... |
OMIM:612953 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Transient ischemic attack, Reticulocytosis, Tremor, Stroke, Sc... |
OMIM:274150 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Open mouth, Narrow mouth, Ataxia, Patent ductus arteriosus, High, narrow palate, ... |
OMIM:300967 |
| Williams Syndrome |
|
Spasticity, Carious teeth, Open bite, Genu valgum, Micrognathia, Mitral regurgitation, Radioulnar... |
ORPHA:904 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Spasticity, Lateral ventricle dilatation, Arachnodactyly, Hypoplasia of the maxilla, Absent thumb... |
ORPHA:500150 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lateral ventricle dilatation, Abnormality of extrapyramidal motor function, Parkinsonism, Parapar... |
ORPHA:2822 |
| Adrenoleukodystrophy |
|
Spastic paraplegia, Incoordination, Limb ataxia, Paraparesis, Truncal ataxia, Slurred speech |
