| +173470 integrin, beta-3 |
|
Impaired platelet aggregation, Abnormal bleeding, Neonatal alloimmune thrombocytopenia, Gastroint... |
OMIM:173470 |
| Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... |
OMIM:619267 |
| Glanzmann Thrombasthenia 1 |
|
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... |
OMIM:273800 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... |
OMIM:619130 |
| Platelet Signal Processing Defect |
|
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... |
OMIM:173590 |
| Frontal Encephalocele |
|
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Cerebral calcification, H... |
ORPHA:1931 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Moyamoya phenomenon, Abnormal platelet aggregation, Hypertension, Stroke, Thrombocytopenia, Abnor... |
ORPHA:401945 |
| Subependymal Nodular Heterotopia |
|
Myelomeningocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Focal cortical dysplasi... |
ORPHA:101030 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... |
OMIM:619271 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... |
OMIM:609821 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Holoprosencephaly, Mandibular progn... |
ORPHA:1908 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Split hand, Encephalocele, Aplasia/Hypoplasia of the r... |
ORPHA:2117 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Abnormal cerebral white matter morpholo... |
OMIM:300660 |
| Lissencephaly 5 |
|
Spastic paraplegia, Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum,... |
OMIM:615191 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal platelet function, Thrombocytopenia, Anemia, Splenomegaly, Abnormal h... |
ORPHA:231393 |
| Athrombia, Essential |
|
Impaired platelet aggregation, Abnormal bleeding, Impaired platelet adhesion, Prolonged bleeding ... |
OMIM:209050 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal macrophage morphology,... |
ORPHA:2585 |
| Joubert Syndrome 14 |
|
Short philtrum, Open mouth, Growth delay, Encephalocele, Ataxia, Postaxial polydactyly, Hypertens... |
OMIM:614424 |
| Enlarged Parietal Foramina |
|
Broad thumb, Myelomeningocele, Abnormal cerebral vein morphology, Encephalomalacia, Cleft lip, Sh... |
ORPHA:60015 |
| Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Widely-spaced maxillary central incisors, Camptodactyly, Hypoplastic ... |
OMIM:136760 |
| Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... |
OMIM:619374 |
| Bernard-Soulier Syndrome |
|
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... |
OMIM:231200 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Type II lissencephaly, Ventriculomegaly, Oral cleft, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Glanzmann Thrombasthenia |
|
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... |
ORPHA:849 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Holoprosencephaly, Ventriculomegaly, Kyphosis, Patent ductus arteriosus, Encephalo... |
ORPHA:93274 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia, Encephalocele, Phocomelia |
OMIM:223340 |
| Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the corpus callosum, Abnormal form of the vertebral bodies, Holoprosencepha... |
ORPHA:1590 |
| Pallister-Hall-Like Syndrome |
|
Hypothalamic hamartoma, Postaxial hand polydactyly, Anterior hypopituitarism, Micrognathia, Micro... |
OMIM:241800 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Abnormal bleeding, Persistent bleeding after trauma, Prolonged ble... |
OMIM:277480 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis |
OMIM:615888 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Epistaxis,... |
OMIM:614009 |
| Griscelli Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Encephalocele, Ataxia, Thromboc... |
ORPHA:381 |
| Meckel Syndrome, Type 2 |
|
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Encephalocele, Anencephaly, Me... |
OMIM:603194 |
| Brain Small Vessel Disease 2 |
|
Hemiplegia, Porencephalic cyst, Intracranial hemorrhage, Ventriculomegaly, Growth delay, Polymicr... |
OMIM:614483 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Open mouth, Camptodactyly, Patent ductus arteriosus, Anencephaly, Short thumb, High palate, Micro... |
OMIM:619148 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hemiparesis, Cleft upper lip, Cleft palate, Abnormal mast cell morpholog... |
ORPHA:398189 |
| Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... |
OMIM:187950 |
| Craniotelencephalic Dysplasia |
|
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Frontal encephalocele, Microcephaly, Agene... |
ORPHA:1528 |
| Meckel Syndrome, Type 4 |
|
Postaxial hand polydactyly, Hypoplasia of the corpus callosum, Bowing of the long bones, Encephal... |
OMIM:611134 |
| Acromelic Frontonasal Dysostosis |
|
Choroid plexus cyst, Polydactyly, Hypoplasia of the corpus callosum, Ventriculomegaly, Preaxial p... |
OMIM:603671 |
| Adams-Oliver Syndrome |
|
Absent hand, Porencephalic cyst, Gastrointestinal hemorrhage, Finger syndactyly, Split hand, Hype... |
ORPHA:974 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal cerebral white matter morphology, Occipital encephalocele, Type II lissencephaly, Hydroc... |
ORPHA:352682 |
| Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Paraparesis, Recurrent subcortical infarcts, Tetraparesis, Hemiparesis, ... |
ORPHA:140989 |
| Schisis Association |
|
Spina bifida, Encephalocele, Anencephaly, Unilateral cleft lip, Cleft palate, Microcephaly |
ORPHA:63862 |
| Acromelic Frontonasal Dysplasia |
|
Choroid plexus cyst, Ventriculomegaly, Preaxial foot polydactyly, Encephalocele, Hypopituitarism,... |
ORPHA:1827 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Oligodactyly, Downturned corners of mouth, Thin upper lip vermilion, Clinodactyly of the 3rd toe,... |
ORPHA:521308 |
| Lissencephaly 8 |
|
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Microcephaly, Occipital ence... |
OMIM:617255 |
| Oculoauriculofrontonasal Syndrome |
|
Scoliosis, Narrow mouth, Lipoma of corpus callosum, Encephalocele, Cleft lip, Cleft palate, Micro... |
ORPHA:398156 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Micrognathia, Camptodactyly, Broad long bones, Bowing of the long bones, Encephalocele, Severe sh... |
OMIM:224400 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... |
OMIM:601399 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Macroglossia, Agenesis of corpus callosum, Type II lissenceph... |
ORPHA:370959 |
| Atelosteogenesis, Type I |
|
Short metatarsal, Thoracic platyspondyly, Multinucleated giant chondrocytes in epiphyseal cartila... |
OMIM:108720 |
| Otopalatodigital Syndrome Type 2 |
|
Scoliosis, Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Hypoplastic frontal s... |
ORPHA:90652 |
| Episodic Ataxia, Type 1 |
|
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign |
OMIM:160120 |
| Von Willebrand Disease, Type 1 |
|
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... |
OMIM:193400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly, Anencephaly, Cortical dyspl... |
OMIM:615287 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cleft palate |
ORPHA:217 |
| Joubert Syndrome With Renal Defect |
|
Scoliosis, Tremor, Hand polydactyly, Agenesis of corpus callosum, Oculomotor apraxia, Encephaloce... |
ORPHA:220497 |
| Snakebite Envenomation |
|
Pseudobulbar paralysis, Cardiogenic shock, Ecchymosis, Abnormal bleeding, Intracranial hemorrhage... |
ORPHA:449285 |
| Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
| Cocaine Embryofetopathy |
|
Hypertonia, Encephalocele, Short distal phalanx of finger |
ORPHA:1911 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Hemiplegia, Ischemic stroke, Intracranial hemorrhage, Recurrent subcortical infarcts, Abnormal ce... |
ORPHA:136 |
| Joubert Syndrome With Ocular Defect |
|
Scoliosis, Tremor, Hand polydactyly, Agenesis of corpus callosum, Abnormal vertebral morphology, ... |
ORPHA:220493 |
| Pseudoprogeria Syndrome |
|
Progressive spastic quadriplegia, Growth delay, Cranium bifidum occultum, Short stature, Microcep... |
ORPHA:2985 |
| Joubert Syndrome |
|
Scoliosis, Tremor, Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Abnormal form of ... |
ORPHA:475 |
| Congenital Factor Ii Deficiency |
|
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... |
ORPHA:325 |
| Menkes Disease |
|
Intracranial hemorrhage, Hypertonia, Intrauterine growth retardation, Short stature, Metaphyseal ... |
OMIM:309400 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Scoliosis, Anterior encephalocele, Short femur, Absent septum pellucidum, Holoprosencephaly, Foot... |
OMIM:601357 |
| Aneurysm, Intracranial Berry, 12 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm |
OMIM:618734 |
| Internal Carotid Absence |
|
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia |
ORPHA:981 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Pulmonary hemorrhage, Short philtrum, Aortic regurgitation, Neutropenia, Ataxia, Macrothrombocyto... |
OMIM:603585 |
| Meckel Syndrome, Type 8 |
|
Postaxial hand polydactyly, Polydactyly, Encephalocele, Cleft upper lip, Cleft palate, Microcephaly |
OMIM:613885 |
| Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... |
OMIM:139090 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Postaxial polydactyly, Dilated third ventricle, Short digit, Occipital encephalocele, Micrognathi... |
ORPHA:397715 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Arrhinencephaly, Frontal encephalocele, Agenesis of corpus callosum, Li... |
OMIM:218670 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Hip dysplasia, Scoliosis, Carious teeth, Metaphyseal chondrodysplasia, Disproportionate short sta... |
ORPHA:2501 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... |
OMIM:605735 |
| Hermansky-Pudlak Syndrome 2 |
|
Long philtrum, Carious teeth, Prolonged bleeding time, Periodontitis, Impaired ADP-induced platel... |
OMIM:608233 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Clubbing of fingers, Anisospondyly, Narrow mouth, Broad long bones, Hypoplastic ilia, Hypoplastic... |
ORPHA:1865 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Microcephaly, Progressive spastic quadriplegia, Encephalocele |
OMIM:200130 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Congenital hip dislocation, Hypoplasia of the corpus callosum, Cleft palat... |
OMIM:164180 |
| Joubert Syndrome 7 |
|
Scoliosis, Postaxial hand polydactyly, Oculomotor apraxia, Encephalocele, Postaxial polydactyly, ... |
OMIM:611560 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral calcification |
OMIM:116860 |
| Von Willebrand Disease |
|
Abnormal platelet function, Abnormal thrombocyte morphology, Deviation of finger |
ORPHA:903 |
| Gabriele-De Vries Syndrome |
|
Tremor, Ventriculomegaly, Abnormal cerebral white matter morphology, Abnormality of the dentition... |
OMIM:617557 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... |
OMIM:601709 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Long philtrum, Moyamoya phenomenon, Dilated cardiomyopathy, Short phalanx of finger, Small hand, ... |
OMIM:300845 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Ventriculomegaly, Tremor, Normal pressure hydrocephalus |
OMIM:611808 |
| Joubert Syndrome 16 |
|
Polydactyly, Oculomotor apraxia, Encephalocele, Dandy-Walker malformation |
OMIM:614465 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... |
OMIM:614561 |
| Sneddon Syndrome |
|
Tremor, Intracranial hemorrhage, Chorea, Hemiparesis, Hypertension |
ORPHA:820 |
| Joubert Syndrome 9 |
|
Scoliosis, Ventriculomegaly, Oculomotor apraxia, Encephalocele |
OMIM:612285 |
| Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant |
|
Atretic occipital cephalocele, Dandy-Walker malformation |
OMIM:609222 |
| Familial Cervical Artery Dissection |
|
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Paralysis, Stroke, Dilatati... |
ORPHA:36382 |
| Frontorhiny |
|
Scoliosis, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Finger clinodactyl... |
ORPHA:391474 |
| Methanol Poisoning |
|
Basal ganglia necrosis, Bilateral basal ganglia lesions, Abnormal caudate nucleus morphology, Int... |
ORPHA:31825 |
| Parietal Foramina 1 |
|
Encephalocele, Cleft upper lip, Cleft palate |
OMIM:168500 |
| Iniencephaly |
|
Mandibular aplasia, Rocker bottom foot, Spina bifida, Hyperlordosis, Narrow mouth, Holoprosenceph... |
ORPHA:63259 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Carious teeth, Small epiphyses, High palate, Short femoral neck, Advanced ossification... |
OMIM:618363 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Postaxial polydactyly, Anencephaly, Cleft palate |
OMIM:614175 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time |
OMIM:173420 |
| Brain Small Vessel Disease 3 |
|
Cerebral atrophy, Cerebral hemorrhage, Spastic tetraplegia, Cerebral calcification, Leukoencephal... |
OMIM:618360 |
| Fetal Gaucher Disease |
|
Stillbirth, Intracranial hemorrhage, Hypertonia, Thrombocytopenia, Pancytopenia, Neonatal death, ... |
ORPHA:85212 |
| Hermansky-Pudlak Syndrome 7 |
|
Impaired platelet aggregation, Abnormal bleeding, Bruising susceptibility, Epistaxis |
OMIM:614076 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Ataxia, Cerebral cortical atrophy, S... |
OMIM:617862 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Abnormality of the dentition, Intrauterine growth retardation, Conical tooth, Broa... |
ORPHA:228390 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Postaxial polydactyly type A, Encephalocele |
ORPHA:1003 |
| Regional Odontodysplasia |
|
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... |
ORPHA:83450 |
| Meckel Syndrome 13 |
|
Micrognathia, Occipital encephalocele, Oculomotor apraxia, Ataxia |
OMIM:617562 |
| Mirage Syndrome |
|
Overlapping fingers, Radial club hand, Rocker bottom foot, Scoliosis, Intracranial hemorrhage, Hy... |
OMIM:617053 |
| Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis,... |
OMIM:614075 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Short stature |
OMIM:312910 |
| Holoprosencephaly |
|
Scoliosis, Branchial anomaly, Spinal dysraphism, Spinal cord tumor, Solitary median maxillary cen... |
ORPHA:2162 |
| Septopreoptic Holoprosencephaly |
|
Abnormality of the septum pellucidum, Abnormal vertebral morphology, Megalencephaly, Abnormal cor... |
ORPHA:280195 |
| Hypophosphatasia, Infantile |
|
Platyspondyly, Stillbirth, Intracranial hemorrhage, Metaphyseal cupping, Abnormality of the denti... |
OMIM:241500 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Ventriculomegaly, Hemiparesis, Meningocele, Syringomyelia, Dandy-Walker ... |
ORPHA:2481 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Open operculum, Tremor, Abnormal caudate nucleus morphology, Rigidity, Pallidal degeneration, Poo... |
ORPHA:25 |
| Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Spinal cord co... |
ORPHA:79443 |
| Coach Syndrome 1 |
|
Postaxial hand polydactyly, Growth delay, Oculomotor apraxia, Encephalocele, Ataxia, Hypertension... |
OMIM:216360 |
| Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... |
ORPHA:326 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Prolonged bleeding time, Intracranial hemorrhage, Leukocytosis, Brui... |
ORPHA:3226 |
| Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Impaired collagen-induced platelet aggregation, Reduced platelet dense granules, Menor... |
OMIM:619172 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia |
OMIM:617443 |
| Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation, Abnormal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility... |
OMIM:614077 |
| Duplication Of The Pituitary Gland |
|
Abnormality of the tongue, Abnormality of the pituitary gland, Abnormal hypothalamus morphology, ... |
ORPHA:314621 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Long philtrum, Moyamoya phenomenon, Ischemic stroke, Hypertension, Delayed puberty, Cerebral hemo... |
ORPHA:280679 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Severe Hemophilia A |
|
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... |
ORPHA:169802 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... |
ORPHA:853 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... |
ORPHA:284388 |
| Congenital Factor Vii Deficiency |
|
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... |
ORPHA:327 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Scoliosis, Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Holoprosencephaly, Enc... |
OMIM:253800 |
| Joubert Syndrome 2 |
|
Postaxial hand polydactyly, Enlarged fossa interpeduncularis, Encephalocele, Oculomotor apraxia, ... |
OMIM:608091 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Hypoplasia of the corpus callosum, Abnormality of the dentition, Ataxia, Spasticity |
OMIM:616494 |
| Leber Congenital Amaurosis |
|
Hemiplegia/hemiparesis, Encephalocele |
ORPHA:65 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage... |
ORPHA:3002 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait ataxia, Hypermobility of toe joints, Hypoplasia of the corpus callosum, Growth delay, Thin u... |
ORPHA:488635 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Pachygyria, Type II lissencephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Encephalo... |
OMIM:614643 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... |
OMIM:300835 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Long philtrum, Preaxial hand polydactyly, Broad thumb, Pachygyria, Exencephaly, Finger syndactyly... |
ORPHA:2211 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... |
ORPHA:35909 |
| Sneddon Syndrome |
|
Hemiplegia, Tremor, Ischemic stroke, Hypertension, Cerebral hemorrhage |
OMIM:182410 |
| Parietal Foramina 3 |
|
Encephalocele |
OMIM:609566 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Squared iliac bones, Hypoplastic pelvis, Microretrognathia, Rhizomelia, Preaxial polydactyly, Pat... |
OMIM:616300 |
| Parietal Foramina 2 |
|
Encephalocele |
OMIM:609597 |
| Joubert Syndrome With Oculorenal Defect |
|
Scoliosis, Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Ataxia, Fo... |
ORPHA:2318 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Pancytopenia, Anemia, Abnormality of neutrophil physiology, ... |
ORPHA:167 |
| Meckel Syndrome, Type 5 |
|
Postaxial hand polydactyly, Bowing of the long bones, Anencephaly, Cleft palate, Cleft upper lip,... |
OMIM:611561 |
| Wiskott-Aldrich Syndrome |
|
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Acute leukemia, Purpur... |
ORPHA:906 |
| Bernard-Soulier Syndrome |
|
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... |
ORPHA:274 |
| Congenital Factor Xiii Deficiency |
|
Ecchymosis, Prolonged bleeding after surgery, Persistent bleeding after trauma, Myeloid leukemia,... |
ORPHA:331 |
| Pseudotrisomy 13 Syndrome |
|
Median cleft lip and palate, Postaxial hand polydactyly, Agenesis of corpus callosum, Holoprosenc... |
OMIM:264480 |
| Cerebral Cavernous Malformations 3 |
|
Abnormal cerebral morphology, Cerebral hemorrhage, Paralysis |
OMIM:603285 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Abnormal cerebral white matter morphology, Ataxia, Cardiac arrest, High palate |
OMIM:618951 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Oligodactyly, Humeroradial synostosis, Arachnodactyly, Occipital encephalocele |
OMIM:614416 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Apraxia, Ataxia, Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoence... |
OMIM:615889 |
| Treacher-Collins Syndrome |
|
Open bite, Abnormal dental enamel morphology, Narrow mouth, Patent ductus arteriosus, High palate... |
ORPHA:861 |
| Abeta Amyloidosis, Iowa Type |
|
Cerebral hemorrhage, Myoclonus, Abnormal cerebral vascular morphology, Stroke |
ORPHA:324708 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Short stature, Spina bifida occulta, Intrauterine growth retardation, Microcephaly... |
OMIM:101805 |
| Meckel Syndrome, Type 3 |
|
Postaxial hand polydactyly, Polydactyly, Cleft palate, Postaxial foot polydactyly, Occipital ence... |
OMIM:607361 |
| Polycythemia Vera |
|
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... |
OMIM:263300 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... |
ORPHA:231160 |
| Pentalogy Of Cantrell |
|
Scoliosis, Abnormality of tibia morphology, Split hand, Polysplenia, Encephalocele, Aplasia/Hypop... |
ORPHA:1335 |
| Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abn... |
ORPHA:49042 |
| Hemophilia B |
|
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... |
ORPHA:98879 |
| Hsd10 Disease |
|
Tremor, Choreoathetosis, Spastic paraparesis, Drooling, Ventriculomegaly, Ataxia, Frontotemporal ... |
ORPHA:391417 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, Leukocytosis, ST segment depression, Hypopituitarism, Hypertension, Abnormal cer... |
ORPHA:90065 |
| Acquired Von Willebrand Syndrome |
|
Persistent bleeding after trauma, Hypochromic anemia, Joint hemorrhage, Aortic regurgitation, Gas... |
ORPHA:99147 |
| Moderate Hemophilia A |
|
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... |
ORPHA:169805 |
| Meckel Syndrome, Type 1 |
|
Natal tooth, Patent ductus arteriosus, Anencephaly, Lobulated tongue, Cerebral hypoplasia, Microg... |
OMIM:249000 |
| Pai Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Bifid uvula, Cleft palate, Abnormal ora... |
ORPHA:1993 |
| Cerebral Visual Impairment |
|
Clumsiness, Ischemic stroke, Intracranial hemorrhage, Abnormal cerebral white matter morphology, ... |
ORPHA:447788 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Cerebral hemorrhage, Stroke |
OMIM:105150 |
| Meckel Syndrome, Type 9 |
|
Occipital encephalocele |
OMIM:614209 |
| Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Joint hemorrhage, Impaired platelet adhesion, Gastrointestinal hemorrhage, Autoim... |
ORPHA:324636 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Hemiplegia, Subarachnoid hemorrhage, Cerebral vasculitis, Eosinophilia |
OMIM:243700 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Tremor, Gait ataxia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babinski sign,... |
OMIM:607317 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele |
OMIM:615397 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Anterior encephalocele, Hydrocephalus |
OMIM:614195 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Patent ductus arteriosus, Thrombocytopenia, Polymicrogyria, Cerebral hemorrhage... |
OMIM:617397 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Narrow palate, Downturned corners of mouth, Hypoplasia of the corpus ... |
OMIM:605627 |
| Factor X Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p... |
OMIM:227600 |
| Sitosterolemia 1 |
|
Impaired platelet aggregation, Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic an... |
OMIM:210250 |
| Abetal34V Amyloidosis |
|
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke |
ORPHA:324703 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Scoliosis, Macroglossia, Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Ventricu... |
OMIM:613150 |
| Osteogenesis Imperfecta |
|
Scoliosis, Abnormality of long bone morphology, Abnormality of tibia morphology, Carious teeth, A... |
ORPHA:666 |
| Spondyloenchondrodysplasia |
|
Abnormal periventricular white matter morphology, Short distal phalanx of finger, Pancytopenia, B... |
ORPHA:1855 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke |
OMIM:603284 |
| 4Q21 Microdeletion Syndrome |
|
Scoliosis, Tremor, Thin vermilion border, Toe syndactyly, Short philtrum, Downturned corners of m... |
ORPHA:238750 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Incoordination, Wolff-Parkinson-White syndrome, Abnormal cerebral white matter morphology... |
OMIM:614947 |
| Familial Multiple Nevi Flammei |
|
Hemiplegia, Scoliosis, Arrhythmia, Intracranial hemorrhage, Hemiparesis, Pulmonary embolism, Cere... |
ORPHA:624 |
| Alg13-Cdg |
|
Long philtrum, Adducted thumb, Clumsiness, Abnormal lateral ventricle morphology |
ORPHA:324422 |
| Meckel Syndrome, Type 6 |
|
Postaxial hand polydactyly, Hand polydactyly, Anencephaly, Cleft upper lip, Cleft palate, Occipit... |
OMIM:612284 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorr... |
ORPHA:99828 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Drooling, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Rhizomelic Chondrodysplasia Punctata |
|
Scoliosis, Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Growth delay, A... |
ORPHA:177 |
| Congenital Factor X Deficiency |
|
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... |
ORPHA:328 |
| Frontofacionasal Dysplasia |
|
Hypoplasia of the corpus callosum, Encephalocele, Non-midline cleft lip, Short stature, Cleft palate |
ORPHA:1791 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Rocker bottom foot, Short 5th finger, Short philtrum, Intracranial hemorrhage, 2-3 toe syndactyly... |
ORPHA:163979 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Split hand, Cutaneous finger syndactyly, Thoracolumbar scoliosis, Split foot, Spina bifida occult... |
OMIM:183802 |
| Acropectorovertebral Dysplasia |
|
Broad thumb, Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal ... |
OMIM:102510 |
| Hemophilia A |
|
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... |
ORPHA:98878 |
| Aspergillosis |
|
Abnormality of long bone morphology, Increased circulating IgE level, Intracranial hemorrhage, Ne... |
ORPHA:1163 |
| Acrofacial Dysostosis, Palagonia Type |
|
Scoliosis, Short 4th metacarpal, Oligodontia, Abnormal vertebral morphology, Spina bifida occulta... |
OMIM:601829 |
| Acquired Purpura Fulminans |
|
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Shock, Prolonged... |
ORPHA:49566 |
| Vacterl/Vater Association |
|
Preaxial hand polydactyly, Finger syndactyly, Anencephaly, Aplasia/Hypoplasia of the radius, Non-... |
ORPHA:887 |
| Arnold-Chiari Malformation Type Ii |
|
Agenesis of corpus callosum, Paraparesis, Ventriculomegaly, Spasticity, Aqueductal stenosis, Atax... |
ORPHA:1136 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage, Thrombocytopenia, Pancytopenia, Leukopenia, Bone marrow hypocellularity |
OMIM:243500 |
| Non-Functioning Paraganglioma |
|
Palpitations, Tremor, Hypertension associated with pheochromocytoma, Positive regitine blocking t... |
ORPHA:94080 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Drooling, Chorea, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Limb Body Wall Complex |
|
Aplasia of the proximal phalanges of the hand, Spina bifida, Short umbilical cord, Myelomeningoce... |
ORPHA:2369 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormal conus terminalis morphology, Gastrointestinal hemorrhage, Hematemesis, Osteolysis involv... |
ORPHA:464321 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Excessive salivation, Hypertonia, Cerebral calcification, Myoclonus, Microcephaly, Choreo... |
OMIM:261630 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysdiadochokinesis, Tremor, Truncal ataxia, Hypoplasia of the corpus callosum, Thoracic kyphosis,... |
OMIM:610185 |
| Poland Syndrome |
|
Scoliosis, Absent hand, Hand polydactyly, Finger syndactyly, Split hand, Kyphosis, Cone-shaped ep... |
ORPHA:2911 |
| Cleidocranial Dysplasia |
|
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Ab... |
ORPHA:1452 |
| 4H Leukodystrophy |
|
Dysdiadochokinesis, Delayed eruption of teeth, Tremor, Drooling, Abnormality of extrapyramidal mo... |
ORPHA:289494 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Type II lissencephaly, Spastic diplegia, Postnatal growth retardation, Metatarsus adductus, Torti... |
ORPHA:300570 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Postaxial hand polydactyly, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:2166 |
| Orofaciodigital Syndrome I |
|
Enamel hypoplasia, Carious teeth, Tongue nodules, Polydactyly, Lobulated tongue, Alveolar ridge o... |
OMIM:311200 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Subdural hemorrhage, Poor fine motor coordination, Neutropenia, Pulmonary embolism, Periventricul... |
ORPHA:79282 |
| Wyburn-Mason Syndrome |
|
Subarachnoid hemorrhage, Hemiparesis, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular ... |
ORPHA:53719 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, High palate, Retrog... |
OMIM:300983 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Micrognathia, Hypoplasia of the c... |
OMIM:236670 |
| Hemifacial Microsomia |
|
Vertebral hypoplasia, Hydrocephalus, Branchial anomaly, Micrognathia, Patent ductus arteriosus, W... |
OMIM:164210 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Abnormal humerus morphology, Epidural hemorrhage, Abnormality of the ischium, ... |
ORPHA:464329 |
| Propionic Acidemia |
|
Cerebral atrophy, Cerebellar hemorrhage, Neutropenia, Thrombocytopenia, Pancytopenia, Limb hypert... |
OMIM:606054 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Hypoplasia of the corpus callosum, Spastic diplegia, Ataxia, Lower limb spasticity, Leukoencephal... |
OMIM:615281 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Tremor, Gait ataxia, Thoracic kyphosis, Hypertonia, Ataxia, Clinodactyly, Syndactyly, Myoclonus, ... |
OMIM:619092 |
| Amelogenesis Imperfecta |
|
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... |
ORPHA:88661 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign, Diffuse c... |
OMIM:615362 |
| Abeta Amyloidosis, Italian Type |
|
Cerebral hemorrhage, Stroke |
ORPHA:324713 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Short foot, Cleft upper lip, Cleft palate, Ethmoidal enceph... |
OMIM:607597 |
| 15Q24 Microdeletion Syndrome |
|
Scoliosis, Long philtrum, Abnormal thumb morphology, Myelomeningocele, Narrow mouth, Thick lower ... |
ORPHA:94065 |
| Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Epiphyseal stippling, Punctate vertebral calcifications, Short distal phalanx of fi... |
ORPHA:1914 |
| Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Ataxia, Cervical myelopathy, Opisthotonus, Syringomyelia, Myelomenin... |
OMIM:207950 |
| Neural Tube Defects, Susceptibility To |
|
Anencephaly, Spina bifida occulta, Myelomeningocele, Hydrocephalus, Asymmetry of spinal facet joints |
OMIM:182940 |
| Segawa Syndrome, Autosomal Recessive |
|
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... |
OMIM:605407 |
| Nevus Comedonicus Syndrome |
|
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... |
ORPHA:64754 |
| Lopes-Maciel-Rodan Syndrome |
|
Scoliosis, Tremor, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Kyphosis, Ankle clonus,... |
OMIM:617435 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Gait ataxia, Macroglossia, Thick lower lip vermilion, Hypoplasia of the corpus callosum, ... |
OMIM:300354 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... |
ORPHA:363654 |
| Three M Syndrome 1 |
|
Hyperlordosis, Long philtrum, Increased vertebral height, Thick lower lip vermilion, Hypoplastic ... |
OMIM:273750 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Scoliosis, Intraventricular hemorrhage, Clonus, Neonatal death, Spastic tetraplegia, Myoclonus, I... |
OMIM:619055 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Scoliosis, Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Hyperintensity of cerebral white... |
ORPHA:521406 |
| Meckel Syndrome |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the corpus callosum,... |
ORPHA:564 |
| Pagod Syndrome |
|
Spina bifida, Arrhythmia, Encephalocele, Meningocele, Sudden cardiac death, Short stature, Microc... |
ORPHA:991 |
| Joubert Syndrome With Hepatic Defect |
|
Scoliosis, Tremor, Postaxial hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Oculomo... |
ORPHA:1454 |
| Triploidy |
|
Macroglossia, Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Finger syndactyly, Holopro... |
ORPHA:3376 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Cerebral hemorrhage, Purpura |
OMIM:614514 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Tremor, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Hypertonia, Growth... |
OMIM:617248 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... |
OMIM:613225 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cavum septum pellucidum, Oromotor apraxia, Pachygyria, Abnormal caudate nucleus morphology, Hypop... |
ORPHA:300573 |
| Carpenter Syndrome 1 |
|
Scoliosis, Flared iliac wing, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Spina... |
OMIM:201000 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Long philtrum, Paroxysmal supraventricular tachycardia, Dental crowding, Pierre-Robin sequence, E... |
OMIM:617877 |
| Zechi-Ceide Syndrome |
|
Oligodontia, Short metatarsal, Cephalocele, Short distal phalanx of finger, Sandal gap, Cleft upp... |
OMIM:612916 |
| 48,Xxyy Syndrome |
|
Hip dysplasia, Open bite, Tremor, Carious teeth, Abnormal dental enamel morphology, Radioulnar sy... |
ORPHA:10 |
| Congenital Hydrocephalus |
|
Colpocephaly, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Hydrocephalus,... |
ORPHA:2185 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage, Epidural he... |
ORPHA:465 |
| Atypical Rett Syndrome |
|
Scoliosis, Pill-rolling tremor, Tremor, Apraxia, Gait ataxia, Growth delay, Kyphosis, Small hand,... |
ORPHA:3095 |
| Isolated Hemihyperplasia |
|
Scoliosis, Myelomeningocele, Abnormality of the dentition |
ORPHA:2128 |
| Fountain Syndrome |
|
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Everte... |
ORPHA:3219 |
| Orofaciodigital Syndrome Xiv |
|
Micrognathia, Hypoplasia of the corpus callosum, Holoprosencephaly, Preaxial polydactyly, Patent ... |
OMIM:615948 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Prominent calcaneus, Scoliosis, Corpus callosum atrophy, Open mouth, Drooling, Hypoplasia of the ... |
ORPHA:565624 |
| Lathosterolosis |
|
Long philtrum, Postaxial hand polydactyly, Toe syndactyly, Downturned corners of mouth, High pala... |
ORPHA:46059 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Abnormal cerebral white matter morphology, Congenital thrombocytopenia, Hypertensio... |
OMIM:618886 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Tongue atrophy, Parkinsonism, Upper motor ne... |
ORPHA:216873 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa... |
ORPHA:251282 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Gait ataxia, Truncal ataxia, Hyperplasia of the maxilla, Chorea, Abnormal cerebral white ... |
OMIM:618587 |
| Noonan Syndrome |
|
Scoliosis, Abnormal bleeding, Arrhythmia, Radioulnar synostosis, Thick lower lip vermilion, Micro... |
ORPHA:648 |
| Czeizel-Losonci Syndrome |
|
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, Hydrocephalus, Micrognathia, 3-4 fing... |
ORPHA:2437 |
| Tempi Syndrome |
|
Increased hematocrit, Intracranial hemorrhage, Polycythemia, Increased circulating IgG level, Tel... |
ORPHA:284227 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Spastic paraplegia, Intracranial hemorrhage, Epistaxis, Hypertension, Second degree atrioventricu... |
ORPHA:369929 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Cleft ... |
ORPHA:66637 |
| Hypermanganesemia With Dystonia 2 |
|
Scoliosis, Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Parkinsonism, Babinski sign, Sec... |
OMIM:617013 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Scoliosis, Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babins... |
OMIM:270500 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity |
ORPHA:401901 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Micrognathia, Hypoplasia of the corpus callosum, Hypertonia, 2-3 toe syndactyly, Joint contractur... |
OMIM:618914 |
| Leukocyte Adhesion Deficiency |
|
Impaired platelet aggregation, Abnormal bleeding, Abnormality of neutrophil physiology, Severe pe... |
ORPHA:2968 |
| Menkes Disease |
|
Tarsal synostosis, Gastrointestinal hemorrhage, Intracranial hemorrhage, Chorea, Hypertonia, Bowi... |
ORPHA:565 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased hemoglobin, Hypertension, Increased red blood cell mass, Myocardi... |
OMIM:133100 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia |
OMIM:227500 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Large iliac wing, High iliac wing, Severe sh... |
ORPHA:2780 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Finger syndactyly, Microretrognathia, Abnormal palate morphology, Smooth philtrum,... |
ORPHA:1786 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Thrombocytopenia, Leukopenia, Abnormal globus pallidus morphology, Cardiom... |
OMIM:251000 |
| Kohlschutter-Tonz Syndrome-Like |
|
Enamel hypoplasia, Scoliosis, Carious teeth, Sandal gap, Yellow-brown discoloration of the teeth,... |
OMIM:619229 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Gait ataxia, Limb ataxia, Dysmetria, Babinski sign, Agenesis of corpus callosum |
OMIM:610245 |
| Acrofacial Dysostosis, Palagonia Type |
|
Scoliosis, Short 4th metacarpal, Oligodontia, Finger syndactyly, Abnormal form of the vertebral b... |
ORPHA:1787 |
| Autosomal Spastic Paraplegia Type 58 |
|
Tremor, Gait ataxia, Clonus, Spastic ataxia, Chorea, Abnormal cerebral white matter morphology, C... |
ORPHA:397946 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hyperlordosis, Tremor, Hypertonia, Hypertension, Cerebral cortical atrophy, Cerebral artery ather... |
ORPHA:1192 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Myoclonus, Spasticity |
OMIM:615924 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Basal ganglia cysts, Arrhythmia, Narrow palate, Tapered toe, ... |
OMIM:608836 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... |
ORPHA:79 |
| 49,Xxxxy Syndrome |
|
Open bite, Delayed eruption of teeth, Tremor, Carious teeth, Abnormal dental enamel morphology, R... |
ORPHA:96264 |
| Frontonasal Dysplasia 2 |
|
Hypoplasia of the corpus callosum, Microcephaly, Encephalocele |
OMIM:613451 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Abnormal caudate nucleus morphology, Parkinsonism with favorable respons... |
ORPHA:314632 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Scoliosis, Tremor, Hemiparesis, Bradykinesia, Parkinsonism, Cerebral cortical hemiatrophy, Dilati... |
ORPHA:306669 |
| Muscle-Eye-Brain Disease |
|
Holoprosencephaly, Hypertonia, Meningocele, Hemiplegia/hemiparesis, Hydrocephalus |
ORPHA:588 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Scoliosis, Camptodactyly of finger, Long philtrum, Finger syndactyly, Abnormal form of the verteb... |
ORPHA:2311 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Tremor, Drooling, Excessive salivation, High palate, Abnormality of the dentition, Ataxia, Spasti... |
OMIM:300055 |
| Jaberi-Elahi Syndrome |
|
Scoliosis, Tremor, Gait ataxia, Kyphosis, Abnormality of the dentition, Triangular mouth, Dysmetr... |
OMIM:617988 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Long philtrum, Tremor, Hypoplasia of the corpus callosum, High palate, Spastic diplegia, Postnata... |
ORPHA:480907 |
| Distal Monosomy 10Q |
|
Short metatarsal, Poor fine motor coordination, Patent ductus arteriosus, Postnatal growth retard... |
ORPHA:96148 |
| Acrocraniofacial Dysostosis |
|
Genu valgum, Short philtrum, Broad thumb, Advanced eruption of teeth, Flared iliac wing, Microgna... |
ORPHA:949 |
| Zechi-Ceide Syndrome |
|
Thin vermilion border, Oligodontia, Short metatarsal, Short philtrum, Downturned corners of mouth... |
ORPHA:217017 |
| Medulloblastoma |
|
Cerebellar hemorrhage, Ataxia, Spinal cord tumor, Progressive cerebellar ataxia, Cerebellar ataxi... |
ORPHA:616 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... |
OMIM:260300 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Cerebellar hemorrhage, Sudden cardiac death, Thrombocytopenia, Congestive heart failure, Dilated ... |
ORPHA:99901 |
| Central Neurocytoma |
|
Hydrocephalus, Ataxia, Cerebral calcification, Babinski sign, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Epiphyseal stippling, Pachygyria, Colpocephaly |
OMIM:614870 |
| Hemorrhagic Fever-Renal Syndrome |
|
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... |
ORPHA:340 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Tremor, Carious teeth, Narrow palate, Narrow mouth, Overlapping toe, Leukoencephalopathy, Short s... |
ORPHA:457365 |
| Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Encephalocele, H... |
OMIM:100300 |
| 16Q24.3 Microdeletion Syndrome |
|
Hip dysplasia, Long philtrum, Scoliosis, Hypoplasia of the corpus callosum, Ventriculomegaly, Mit... |
ORPHA:261250 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Scoliosis, Abnormality of extrapyramidal motor function, Postnatal growth retardation, Retinal te... |
OMIM:612199 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Apraxia, Abnormality of extrapyramidal motor function, Paraparesis, Neuronal loss in the cerebral... |
ORPHA:275872 |
| Fraser Syndrome 1 |
|
Difficulty in tongue movements, Dental crowding, Encephalocele, Cutaneous finger syndactyly, Apla... |
OMIM:219000 |
| Cerebrocostomandibular Syndrome |
|
Spina bifida, Porencephalic cyst, Myelomeningocele, Micrognathia, Kyphosis, Meningocele, Hydranen... |
ORPHA:1393 |
| Bilateral Generalized Polymicrogyria |
|
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, E... |
ORPHA:208447 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Scoliosis, Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus... |
OMIM:618736 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Scoliosis, Tremor, Hypoplasia of the maxilla, Ventriculomegaly, 2-3 toe syndactyly, Limb tremor, ... |
OMIM:218000 |
| Pyruvate Dehydrogenase Deficiency |
|
Long philtrum, Tremor, Aplasia/Hypoplasia of the corpus callosum, Osteolytic defects of the middl... |
ORPHA:765 |
| Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Agenesis of corpus callosum, Absent septum pellucidum, Short 1st metaca... |
OMIM:609053 |
| Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Hypertension |
ORPHA:84090 |
| Humero-Radial Synostosis |
|
Meningocele, Microcephaly, Aplasia/Hypoplasia of the thumb, Tarsal synostosis |
ORPHA:3265 |
| Classic Homocystinuria |
|
Scoliosis, Genu valgum, Gastrointestinal hemorrhage, Dental crowding, Intracranial hemorrhage, Ky... |
ORPHA:394 |
| Chromosome 18Q Deletion Syndrome |
|
Secretory IgA deficiency, Scoliosis, Downturned corners of mouth, Mandibular prognathia, Patent d... |
OMIM:601808 |
| Craniometadiaphyseal Dysplasia |
|
Scoliosis, Genu valgum, Carious teeth, Wide anterior fontanel, Dental crowding, Broad long bones,... |
OMIM:269300 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Scoliosis, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Fascicu... |
OMIM:159950 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis |
OMIM:618425 |
| Oligodontia |
|
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... |
ORPHA:99798 |
| Alpers-Huttenlocher Syndrome |
|
Choreoathetosis, Spastic paraparesis, Paraparesis, Ataxia, Myoclonus, Progressive spasticity, Mic... |
ORPHA:726 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Hemivertebrae, Vertebral fusion, Short stature, Spina bifida occulta, Block vertebrae, Myelomenin... |
OMIM:613686 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Tremor, Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Car... |
ORPHA:572798 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Hemolytic anemia, Cerebral calcification, Microcephaly, Rigidity |
OMIM:615010 |
| Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies |
|
Semilobar holoprosencephaly, Pseudobulbar paralysis, Colpocephaly, Ventriculomegaly, Hypertonia, ... |
OMIM:618651 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Ventriculomegaly, Hypertonia, Meningocele, Glossoptosis, Short stature, Clinodactyly of the 5th f... |
ORPHA:2031 |
| Mental Retardation, Autosomal Dominant 56 |
|
Long philtrum, Open mouth, Paraparesis, High palate, Ataxia, Thin upper lip vermilion, Secondary ... |
OMIM:617854 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Scoliosis, Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, High, nar... |
ORPHA:91387 |
| Lateral Meningocele Syndrome |
|
Scoliosis, Long philtrum, Dental crowding, Biconcave vertebral bodies, Kyphosis, Patent ductus ar... |
OMIM:130720 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Growth delay, Ataxia, Microcephaly, Spasticity |
OMIM:278780 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Brad... |
OMIM:300894 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Gait ataxia, Mandibular prognathia, Abnormal digit morphology, Cleft palate, Short stature, Spina... |
OMIM:268850 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Scoliosis, Gastrointestinal hemorrhage, Angina pectoris, Kyphosis, Calcification of falx cerebri,... |
OMIM:177850 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Cerebral hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:98880 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Scoliosis, Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cere... |
ORPHA:178469 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Scoliosis, Hyperlordosis, Severe short stature, Spina bifida occulta, Cleft palate, Intrauterine ... |
ORPHA:1797 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Tremor, Gait ataxia, Ataxia, Leukoencephalopathy, Dysmetria, Hammertoe |
OMIM:618387 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Choreoathetosis, Excessive salivation, Hypertonia, Ataxia, Bradykinesia, Parkinsonism, Mi... |
OMIM:261640 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Microcytic anemia, Subarachnoid hemorrh... |
ORPHA:774 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Scoliosis, Short philtrum, Cervical platyspondyly, Downturned corners of mouth, Tooth agenesis, P... |
OMIM:618731 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypoplasia of the corpus callosum, Hypertonia, Spastic tetraparesis, Cerebral white matter hypopl... |
ORPHA:284417 |
| Slc35A2-Cdg |
|
Scoliosis, Abnormality of long bone morphology, Hip subluxation, Cerebral white matter atrophy, E... |
ORPHA:356961 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Tremor, Thin vermilion border, Abnormal tongue physiology, Narrow mouth, High palate, Poor coordi... |
ORPHA:544254 |
| Ataxia-Telangiectasia |
|
Tremor, Decreased circulating antibody level, Lymphopenia, Ataxia, Telangiectasia of the skin, De... |
ORPHA:100 |
| Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Abnormal bleeding, Impaired collagen-induced platelet aggre... |
OMIM:604928 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Finger syndactyly, Synosto... |
ORPHA:957 |
| Craniodigital-Intellectual Disability Syndrome |
|
Micrognathia, Short stature, Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
| Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Dental crowding, High palate, Encephalocele, Umbilical hernia,... |
ORPHA:2052 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Tremor, Resting tremor, Stroke, Lower limb spasticity, Congestive heart failure, Parkinsonism, Sh... |
ORPHA:3077 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... |
ORPHA:240103 |
| Neuronal Intranuclear Inclusion Disease |
|
Tremor, Ventriculomegaly, Ataxia, Leukoencephalopathy, Rigidity, Syncope |
OMIM:603472 |
| Phaver Syndrome |
|
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Myelomeningocele, Abnormal form of t... |
ORPHA:2876 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Apraxia, Paraparesis, Cerebral atrophy, Tetraparesis, Abnormal lower motor neuron morphology, Amy... |
OMIM:105550 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Dysmetria, Short stature, Spasticity |
OMIM:213200 |
| Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Abnormality of extrapyramidal motor function, Palatal myoclonus, Torticol... |
ORPHA:99 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Scoliosis, Mandibular prognathia, Pulmonary arterial hypertension, Exaggerated cupid's bow, Dilat... |
ORPHA:464738 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Tremor, Incoordination, Hypoplasia of the corpus callosum, Eyelid myoclonus, Abnormal pyramidal s... |
OMIM:618060 |
| Lateral Meningocele Syndrome |
|
Scoliosis, Hyperlordosis, Dental crowding, Craniofacial hyperostosis, Abnormal form of the verteb... |
ORPHA:2789 |
| Acrodysplasia Scoliosis |
|
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta |
ORPHA:2956 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Tremor, Upper limb undergrowth, Camptodactyly, Patent ductus arteriosus, Smooth philtrum, Ataxia,... |
OMIM:608799 |
| Hydranencephaly |
|
Dysgenesis of the thalamus, Antenatal intracerebral hemorrhage, Abnormal corpus striatum morpholo... |
ORPHA:2177 |
| Gm1 Gangliosidosis |
|
Scoliosis, Narrow mouth, Abnormality of extrapyramidal motor function, Mandibular prognathia, Pat... |
ORPHA:354 |
| Hemihyperplasia, Isolated |
|
Scoliosis, Myelomeningocele |
OMIM:235000 |
| Roberts-Sc Phocomelia Syndrome |
|
Patent ductus arteriosus, Postnatal growth retardation, Abnormality of the metacarpal bones, Fron... |
OMIM:268300 |
| Parkinson Disease 14, Autosomal Recessive |
|
Tremor, Apraxia, Clumsiness, Bradykinesia, Frontotemporal cerebral atrophy, Parkinsonism, Rigidit... |
OMIM:612953 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Rocker bottom foot, Congenital hip dislocation, Micrognathia, Hypertonia, Dilation of lateral ven... |
ORPHA:3078 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ischia, Acetabular dysplasia, Neonatal short-trunk short stature, Micrognathia, Fifth... |
ORPHA:2839 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... |
ORPHA:79243 |
| Hutchinson-Gilford Progeria Syndrome |
|
Thin vermilion border, Narrow mouth, Dental crowding, Intracranial hemorrhage, Short clavicles, P... |
ORPHA:740 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Bilateral cleft lip and palate, Ataxia, Tooth agenesis, Meningocele, Non-midline cleft lip, Hip d... |
ORPHA:2003 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Palpitations, Tremor, Hypertension associated with pheochromocytoma, Positive regitine blocking t... |
ORPHA:276621 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Tremor, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Iron accumulation in substantia nigr... |
ORPHA:329284 |
| Osteogenesis Imperfecta, Type Xvii |
|
Scoliosis, Platyspondyly, Intraventricular hemorrhage, Thin metacarpal cortices, Short stature, V... |
OMIM:616507 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Tremor, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Cerebral cort... |
ORPHA:79263 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigra gliosis, Rigidity |
OMIM:600116 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Tremor, Cerebral atrophy, Ataxia, Dysmetria, Babinski sign, Tongue fasciculations |
OMIM:618170 |
| Inherited Creutzfeldt-Jakob Disease |
|
Focal T2 hyperintense basal ganglia lesion, Tremor, Clumsiness, Gait ataxia, Diffuse spongiform l... |
ORPHA:282166 |
| Neuronal Intranuclear Inclusion Disease |
|
Scoliosis, Abnormal form of the vertebral bodies, Hypertonia, Ataxia, Spina bifida occulta |
ORPHA:2289 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Hypotension, Increased hemoglobin, Stroke, Increased red blood cell mass, C... |
OMIM:263400 |
| Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Slender long bone, Hip dislocation, Spina bifida occulta, Hypoplastic pelvis |
ORPHA:2840 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Arrhythmia, Gastrointestinal hemorrhage, Stroke, Spina bifida occulta, Bruising susceptibility |
ORPHA:230839 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Finger clinodactyly, Aplasia/Hypoplasia of the frontal sinuses, Lipoma o... |
ORPHA:306542 |
| Superficial Siderosis |
|
Dysdiadochokinesis, Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Enl... |
ORPHA:247245 |
| Weaver Syndrome |
|
Scoliosis, Broad thumb, Camptodactyly, Hypertonia, Mandibular prognathia, Metatarsus adductus, Pr... |
OMIM:277590 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Scoliosis, Antenatal intracerebral hemorrhage, Congenital hip dislocation, Micrognathia, Subdural... |
ORPHA:536545 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... |
ORPHA:1946 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Paraparesis, Tetraparesis, Ataxia, Thrombocytopenia, Leukopenia, Anemia, Choreoathetosis, Cardiom... |
ORPHA:27 |
| Caudal Duplication |
|
Spina bifida, Spinal cord lesion, Vertebral segmentation defect, Myelomeningocele, Bifid sacrum |
ORPHA:1756 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Chronic sinusitis, Clumsiness, Intraventricular hemorrhage, Abnormal... |
ORPHA:420741 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Tremor, Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphope... |
OMIM:613179 |
| Oculodentodigital Dysplasia |
|
Enamel hypoplasia, 3-4 toe syndactyly, Carious teeth, Tetraparesis, Vertebral hyperostosis, Spast... |
OMIM:164200 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Epistaxis, Hypertension |
ORPHA:403 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Scoliosis, Tremor, Paraparesis, Kyphosis, Ataxia |
ORPHA:99014 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Orthostatic hypotension, Resting tremor, Bradykinesia |
OMIM:616710 |
| Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Epistaxis, Hypertension |
ORPHA:404 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Cerebral atrophy, Ataxi... |
OMIM:615157 |
| Familial Hyperaldosteronism Type Iii |
|
Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Hypertension |
ORPHA:251274 |
| Joubert Syndrome 8 |
|
Hypertonia, Occipital encephalocele, Oculomotor apraxia, Ataxia |
OMIM:612291 |
| Triopia |
|
Encephalocele, Median cleft lip, Cleft palate |
ORPHA:3374 |
| Tonne-Kalscheuer Syndrome |
|
Tremor, Broad thumb, Narrow mouth, Downturned corners of mouth, Growth delay, Malar flattening, S... |
OMIM:300978 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Hip dysplasia, Tremor, Upper limb spasticity, High palate, Hyperkinetic movements, Myocardial inf... |
ORPHA:457240 |
| Dubowitz Syndrome |
|
Scoliosis, Broad thumb, Postnatal growth retardation, Sandal gap, Metatarsus adductus, Spina bifi... |
ORPHA:235 |
| Phocomelia, Schinzel Type |
|
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Humeroradial synostosis... |
ORPHA:2879 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dysdiadochokinesis, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Dilated fourth ventricl... |
OMIM:614831 |
| Vater/Vacterl Association |
|
Scoliosis, Hypoplasia of the radius, Spina bifida, Radioulnar synostosis, Abnormal vertebral morp... |
OMIM:192350 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus |
OMIM:300864 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Lumbar hyperlordosis, Short c... |
OMIM:169550 |
| Craniosynostosis 6 |
|
Scoliosis, Abnormal corpus callosum morphology, Spina bifida occulta, Microcephaly, Agenesis of c... |
OMIM:616602 |
| Waardenburg Syndrome Type 1 |
|
Scoliosis, Spina bifida, Mandibular prognathia, Tented upper lip vermilion, Meningocele, Cleft up... |
ORPHA:894 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Scoliosis, Long philtrum, Broad thumb, Narrow palate, Intracranial hemorrhage, Angina pectoris, S... |
ORPHA:109 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Short philtrum, Gait ataxia, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, High pal... |
OMIM:618606 |
| Arthrogryposis, Distal, Type 2A |
|
Pursed lips, Rocker bottom foot, Long philtrum, Scoliosis, Narrow mouth, Dental crowding, Camptod... |
OMIM:193700 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... |
OMIM:611302 |
| Acute Liver Failure |
|
Abnormal bleeding, Incoordination, Hepatocellular necrosis, Gastrointestinal hemorrhage, Intracra... |
ORPHA:90062 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Camptodactyly of finger, Diastomatomyelia |
ORPHA:1759 |
| Idiopathic Hypereosinophilic Syndrome |
|
Thrombocytosis, Supraventricular arrhythmia, Intracranial hemorrhage, Leukocytosis, Vasculitis in... |
ORPHA:3260 |
| Cockayne Syndrome Type 3 |
|
Enamel hypoplasia, Scoliosis, Carious teeth, Cerebral white matter atrophy, Subdural hemorrhage, ... |
ORPHA:90324 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Scoliosis, Tremor, Gait ataxia, Narrow palate, Hypertonia, Ataxia, Tented upper lip vermilion, Ba... |
OMIM:616505 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... |
ORPHA:1170 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tremor, Incoordination, Hand tremor, Paraparesis, Abnormal cerebral white matter morphology, Dysm... |
OMIM:302800 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Anemia, Phocomelia, Micrognathia, E... |
OMIM:274000 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Glossitis, Intraventricular hemorrhage, Megaloblastic anemia, Growth delay, Stomatitis, Neutropen... |
ORPHA:79284 |
| Cocaine Intoxication |
|
Ventricular arrhythmia, Tremor, Ischemic stroke, Supraventricular arrhythmia, Hypovolemia, Prolon... |
ORPHA:90068 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Scoliosis, Intraventricular hemorrhage, Open mouth, Speech apraxia, Postnatal growth retardation,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Scoliosis, Intraventricular hemorrhage, Open mouth, Speech apraxia, Postnatal growth retardation,... |
ORPHA:363958 |
| Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Everted lower lip vermilion, Non-midline cleft lip, Oral c... |
ORPHA:1752 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Panhypopituitarism, Abnormality of the sphenoid sinus, Hydrocephalus, Anterior hypopituitarism, I... |
ORPHA:91350 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Dysdiadochokinesis, Tremor, Limb dysmetria, Chorea, Abnormal pyramidal sign, Bradykinesia, Calcif... |
OMIM:213600 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... |
OMIM:600376 |
| Glutamine Deficiency, Congenital |
|
Thin vermilion border, Hypoplasia of the corpus callosum, Camptodactyly, Subependymal cysts, Neon... |
OMIM:610015 |
| Cach Syndrome |
|
T2 hypointense thalamus, Truncal ataxia, Limb ataxia, Growth delay, Cerebral atrophy, Spastic dip... |
ORPHA:135 |
| 48,Xxxy Syndrome |
|
Open bite, Delayed eruption of teeth, Tremor, Carious teeth, Abnormal dental enamel morphology, R... |
ORPHA:96263 |
| White Forelock With Malformations |
|
Finger syndactyly, Abnormal palate morphology, Deep philtrum, Spina bifida occulta, Clinodactyly ... |
ORPHA:2475 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Tremor, Gait ataxia, Poor motor coordination, Cerebral atrophy, Tetraparesis, Abnormal pyramidal ... |
ORPHA:363400 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Progressive spastic paraplegia, Hypoplasia of the corpus callosum, Lower limb spasticity, Spastic... |
ORPHA:401815 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Ataxia, Impaired T cell function, Short stature, Splenomegaly, Hypogeusia |
OMIM:201100 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Tremor, Rigidity, Ataxia, Short stature, Microcephaly, Choreoathetosis, Spasticity |
OMIM:612438 |
| Unilateral Hemispheric Polymicrogyria |
|
Thick cerebral cortex, Hemiparesis, Cortical dysplasia, Cerebral hypoplasia, Dilation of lateral ... |
ORPHA:101071 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra... |
OMIM:605714 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Hip dysplasia, Paraparesis, Scoliosis |
OMIM:302802 |
| Fibular Hemimelia |
|
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... |
ORPHA:93323 |
| Wolfram Syndrome 1 |
|
Tremor, Megaloblastic anemia, Growth delay, Cerebral atrophy, Ataxia, Thrombocytopenia, Siderobla... |
OMIM:222300 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Cerebral calcification, Hematochezia |
OMIM:277175 |
| Cardiofaciocutaneous Syndrome 4 |
|
Scoliosis, Hypoplasia of the corpus callosum, Pulmonic stenosis, Short stature, Abnormal lateral ... |
OMIM:615280 |
| Mental Retardation, Autosomal Dominant 48 |
|
Open mouth, Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Stereoty... |
OMIM:617751 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... |
OMIM:171420 |
| Hellp Syndrome |
|
Microangiopathic hemolytic anemia, Hemolytic anemia, Internal hemorrhage, Decreased mean corpuscu... |
ORPHA:244242 |
| 22Q11.2 Deletion Syndrome |
|
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Narrow mouth, Patent ductus arterios... |
ORPHA:567 |
| Lathosterolosis |
|
Long philtrum, Thin vermilion border, Postaxial hand polydactyly, Toe syndactyly, Micrognathia, G... |
OMIM:607330 |
| Wildervanck Syndrome |
|
Meningocele, Fused cervical vertebrae |
ORPHA:3456 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Reticulocytosis, Cerebral atrophy, Ataxia, Choreoathetosis |
OMIM:612126 |
| Radio-Tartaglia Syndrome |
|
Scoliosis, Long philtrum, Tremor, Short philtrum, Drooling, Dental crowding, High palate, Wide mo... |
OMIM:619312 |
| Incontinentia Pigmenti |
|
Scoliosis, Absent hand, Abnormal dental enamel morphology, Oral cleft, Cerebral cortical atrophy,... |
ORPHA:464 |
| Osteopathia Striata With Cranial Sclerosis |
|
Scoliosis, Dental crowding, Camptodactyly, Natal tooth, Patent ductus arteriosus, Spina bifida oc... |
OMIM:300373 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pulmonary hemorrhage, T lymphocytopenia, Decreased proportion of memory B cells, Paraparesis, Pan... |
ORPHA:79124 |
| Malan Overgrowth Syndrome |
|
Scoliosis, Episodic ataxia, Narrow mouth, Hypoplasia of the corpus callosum, Ventriculomegaly, Sl... |
ORPHA:420179 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Tremor, Clumsiness, Truncal ataxia, Spastic ataxia, Hypoplasia of the corpus callosum, Hypertonia... |
ORPHA:137898 |
| Constricting Bands, Congenital |
|
Scoliosis, Hand polydactyly, Encephalocele, Syndactyly, Cleft upper lip, Cleft palate |
OMIM:217100 |
| Joubert Syndrome 1 |
|
Macroglossia, Postaxial hand polydactyly, Triangular-shaped open mouth, Enlarged fossa interpedun... |
OMIM:213300 |
| Meningioma |
|
Focal T2 hypointense thalamic lesion, Enlarged pituitary gland, Hypothalamic hypothyroidism, Abno... |
ORPHA:2495 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly |
ORPHA:250972 |
| Myoclonic-Atonic Epilepsy |
|
Scoliosis, Tremor, Eyelid myoclonus, Ataxia |
OMIM:616421 |
| Ataxia-Telangiectasia |
|
Defective B cell differentiation, Conjunctival telangiectasia, Tremor, T lymphocytopenia, Decreas... |
OMIM:208900 |
| Polyrrhinia |
|
Oral cleft, Dilation of lateral ventricles, Abnormal third ventricle morphology |
ORPHA:141091 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation, Iron deficiency anemia |
OMIM:618372 |
| Posterior Meningocele |
|
Upper limb spasticity, Hypertonia, Neural tube defect, Meningocele, Occipital meningocele, Thorac... |
ORPHA:268810 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Palpitations, Tremor, Hypertension associated with pheochromocytoma, Positive regitine blocking t... |
ORPHA:29072 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Scoliosis, Delayed eruption of teeth, Oligodontia, Pachygyria, Narrow palate, Narrow mouth, Conic... |
OMIM:235510 |
| Sprengel Deformity |
|
Scoliosis, Cervical segmentation defect, Spina bifida occulta, Hemivertebrae |
OMIM:184400 |
| Gluteal Muscles, Absence Of |
|
Scoliosis, Spina bifida occulta |
OMIM:231970 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Tremor, Abnormality of coordination, Cerebral atrophy, Ataxia, Hypodontia, Abnormal corpus callos... |
ORPHA:442835 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... |
OMIM:187300 |
| Prader-Willi Syndrome Due To Translocation |
|
Scoliosis, Carious teeth, Downturned corners of mouth, Patent ductus arteriosus, Anterior pituita... |
ORPHA:177907 |
| Knobloch Syndrome |
|
Occipital encephalocele, Patent ductus arteriosus, Hydrocephalus |
ORPHA:1571 |
| Ataxia With Vitamin E Deficiency |
|
Dysdiadochokinesis, Scoliosis, Tremor, Arrhythmia, Hypertonia, Abnormal pyramidal sign, Ataxia, H... |
ORPHA:96 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Tremor, Growth delay, Oculomotor apraxia, Ataxia, Microcephaly, Choreoathetosis, Spasticity |
OMIM:612716 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Scoliosis, Tremor, Smooth philtrum, Hemivertebrae, Thin upper lip vermilion, Short stature, Micro... |
ORPHA:370079 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Tongue thrusting, Microcephaly, Diffuse cerebral atrophy, Dilation of la... |
ORPHA:77299 |
| Khan-Khan-Katsanis Syndrome |
|
Scoliosis, Hypertonia, Patent ductus arteriosus, Postaxial polydactyly, Tricuspid regurgitation, ... |
OMIM:618460 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave |
ORPHA:231625 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Short philtrum, Thin vermilion border, Downturned corners of mouth, Kyphosis, Spina ... |
ORPHA:2983 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Scoliosis, Long philtrum, Aplasia of the 1st metacarpal, Tremor, Gait ataxia, Dental crowding, Mi... |
ORPHA:476126 |
| Alagille Syndrome |
|
Short philtrum, Abnormal form of the vertebral bodies, Micrognathia, Hypoplasia of the ulna, Hype... |
ORPHA:52 |
| Mosaic Trisomy 1 |
|
Oral cleft, Long toe, Complete duplication of thumb phalanx, Thoracic scoliosis, 2-3 finger synda... |
ORPHA:1692 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Scoliosis, Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Abnormality of e... |
ORPHA:2822 |
| Van Esch-O'Driscoll Syndrome |
|
Unilateral vocal cord paralysis, Scoliosis, Increased circulating gonadotropin level, Growth dela... |
OMIM:301030 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Para... |
OMIM:606693 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Tremor, Choreoathetosis, Truncal ataxia, Gait ataxia, Hypoplasia of the corpus callosum, Hyperton... |
OMIM:618877 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Downturned corners of mouth, Thick vermilion border, Slender long bone, Short stature, Spina bifi... |
ORPHA:1185 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Cogwheel rigidity, Gait ataxia, Chorea, Hypertonia, Abnormal pyramidal sign, Tetraparesis, Parapa... |
OMIM:607483 |
| Orofaciodigital Syndrome Type 1 |
|
Open bite, Abnormal dental enamel morphology, Tarsal synostosis, Tongue nodules, Odontogenic neop... |
ORPHA:2750 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Scoliosis, Cavum septum pellucidum, Contracture of the proximal interphalangeal joint of the 4th ... |
ORPHA:457279 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Micrognathia, Dilation of lateral ventricles, Subependymal cysts, Multifoca... |
OMIM:600721 |
| O'Sullivan-Mcleod Syndrome |
|
