| Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:273800 |
| Glanzmann Thrombasthenia |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
| Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... |
OMIM:619267 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... |
OMIM:619130 |
| Dk Phocomelia Syndrome |
|
Phocomelia, Thrombocytopenia, Encephalocele |
OMIM:223340 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Abn... |
OMIM:155100 |
| Joubert Syndrome 18 |
|
Retrognathia, Lobulated tongue, Arrhinencephaly, Agenesis of corpus callosum, Camptodactyly, Kyph... |
OMIM:614815 |
| Platelet Signal Processing Defect |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... |
OMIM:173590 |
| Isolated Dandy-Walker Malformation |
|
Cleft palate, Tetralogy of Fallot, Encephalocele, Dandy-Walker malformation |
ORPHA:217 |
| Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Hypoplastic frontal sinuses, Clinodactyly... |
OMIM:136760 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Moyamoya phenomenon, Abnormal cerebral vascular morphology, Raynaud phenomenon, Hypertension, Str... |
ORPHA:401945 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Abnormal platelet count, Impaired collagen-induce... |
OMIM:614201 |
| Cocaine Embryofetopathy |
|
Short distal phalanx of finger, Encephalocele, Hypertonia |
ORPHA:1911 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... |
OMIM:615888 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalo... |
ORPHA:1908 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:609821 |
| Subependymal Nodular Heterotopia |
|
Meningocele, Limb myoclonus, Myelomeningocele, Abnormal ethmoid bone morphology, Partial agenesis... |
ORPHA:101030 |
| Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
| Hartsfield Syndrome |
|
Non-midline cleft lip, Encephalocele, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, ... |
ORPHA:2117 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Spl... |
ORPHA:231393 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Oligodactyly, Thin upper lip vermilion, Downturned corners of mou... |
ORPHA:521308 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Ventriculomegaly, Orofacial cleft |
ORPHA:324416 |
| Athrombia, Essential |
|
Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
| Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Hydrocephalus, Short philtrum, Dandy-Walker malformation, Ataxia, Int... |
OMIM:614424 |
| Hermansky-Pudlak Syndrome 3 |
|
Abnormal number of dense granules, Spontaneous, recurrent epistaxis, Abnormal bleeding, Impaired ... |
OMIM:614072 |
| Scalp Defects-Postaxial Polydactyly Syndrome |
|
Postaxial polydactyly type A, Encephalocele |
ORPHA:1003 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm |
ORPHA:261102 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Encephalocele, Ventriculomegaly, Kyphosis, Short stature, Hydrocephalus... |
ORPHA:93274 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothromb... |
OMIM:124900 |
| Joubert Syndrome 16 |
|
Oculomotor apraxia, Polydactyly, Encephalocele, Dandy-Walker malformation |
OMIM:614465 |
| Pallister-Hall-Like Syndrome |
|
Short stature, Toe syndactyly, Micrognathia, Hydrocephalus, Hip dislocation, Postaxial foot polyd... |
OMIM:241800 |
| Griscelli Syndrome |
|
Leukopenia, Spasticity, Encephalocele, Short stature, Decreased circulating antibody level, Hydro... |
ORPHA:381 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
| Meckel Syndrome 13 |
|
Oculomotor apraxia, Occipital encephalocele, Micrognathia, Ataxia |
OMIM:617562 |
| Enlarged Parietal Foramina |
|
Myelomeningocele, Abnormal cerebral vein morphology, Broad thumb, Venous malformation, Cleft lip,... |
ORPHA:60015 |
| Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Encephalocele, Finger syndactyly, Pulmonary artery a... |
ORPHA:974 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Progressive spastic quadriplegia |
OMIM:200130 |
| Bernard-Soulier Syndrome |
|
Prolonged bleeding after surgery, Purpura, Abnormal bleeding, Epistaxis, Thrombocytopenia, Gingiv... |
OMIM:231200 |
| Immunodeficiency 81 |
|
Reduced natural killer cell activity, Petechiae, Impaired neutrophil chemotaxis, Reduced antigen-... |
OMIM:619374 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Dandy-Walker malformation, Congenital hip dislocation, Cleft palate, Agene... |
OMIM:164180 |
| Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the thumb, Encephalocele, Short stature, Anencephaly, Abnormal metacarpal m... |
ORPHA:1590 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Encephalocele, Short long bone, Micrognathia, Hydrocephalu... |
OMIM:224400 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Subcutaneous hemorrhage |
OMIM:618462 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:1528 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Micrognathia, Narrow mouth, Scoliosis, Cleft lip, Cleft palate, Broad philtrum |
ORPHA:398156 |
| Parietal Foramina 1 |
|
Cleft palate, Cleft upper lip, Encephalocele |
OMIM:168500 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Anencephaly, Bifid uvula, Camptodactyly, Dandy-Walker malformation, Pos... |
OMIM:614175 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant plat... |
OMIM:187800 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Postaxial hand polydactyly, Cleft palate, B... |
OMIM:603194 |
| Parietal Foramina 3 |
|
Encephalocele |
OMIM:609566 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tapered finger, Delayed eruption of teeth, Micrognathia, Camptodactyly, Over... |
OMIM:619148 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Spastic paraplegia |
OMIM:615191 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
| Joubert Syndrome 9 |
|
Scoliosis, Oculomotor apraxia, Encephalocele, Ventriculomegaly |
OMIM:612285 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Cleft upper lip, Hemiparesis, Hydrocephalus, Intracranial hemorrhage, Cleft palate, Abnormal mast... |
ORPHA:398189 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Cleft palate,... |
OMIM:611134 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Frontal encephalocele, Agenesis of corpus callosum |
OMIM:218670 |
| Parietal Foramina 2 |
|
Encephalocele |
OMIM:609597 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility,... |
OMIM:614009 |
| Von Willebrand Disease, Type 3 |
|
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... |
OMIM:277480 |
| Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... |
OMIM:618734 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Cleft upper lip, Encephalocele, Cleft palate, Occipital encephalocele |
OMIM:613885 |
| Joubert Syndrome 7 |
|
Genu valgum, Encephalocele, Oculomotor apraxia, Ataxia, Scoliosis, Postaxial hand polydactyly, Po... |
OMIM:611560 |
| Coach Syndrome 1 |
|
Spasticity, Vascular dilatation, Encephalocele, Wide mouth, Oculomotor apraxia, Hypertension, Ata... |
OMIM:216360 |
| Pseudoprogeria Syndrome |
|
Cranium bifidum occultum, Growth delay, Short stature, Progressive spastic quadriplegia |
ORPHA:2985 |
| Lissencephaly 8 |
|
Occipital encephalocele, Ventriculomegaly, Appendicular spasticity |
OMIM:617255 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Oculomotor apraxia, Hydrocephalus, Hand polydactyly, Ataxia, Tremor, Scoliosis, Cl... |
ORPHA:220497 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Cardiomyopathy, Abnormal pyramidal sign, Ventriculomegaly, Hydrocephalu... |
ORPHA:370959 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Foot polydactyly, Oculomotor apraxia, Hydrocephalus, Hand polydactyly, Abnormal ve... |
ORPHA:220493 |
| Leber Congenital Amaurosis |
|
Hemiplegia/hemiparesis, Encephalocele |
ORPHA:65 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Short long bone, Micrognathia, Anisospondyly, Severe short stature, Disproportionate short-limb s... |
OMIM:224410 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Bifid tongue, Hypoplastic facial bones, Cleft palate, Narrow greater sciatic notch, ... |
OMIM:616300 |
| Dural Sinus Malformation |
|
Cerebellar hemorrhage, Vascular dilatation, Cerebral hemorrhage, Parkinsonism, Hemiparesis, Poor ... |
ORPHA:97339 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... |
OMIM:187900 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Conical tooth, Encephalocele, Agenesis of corpus callosum, Intrauterine growth retardation, Broad... |
ORPHA:228390 |
| Brain Small Vessel Disease 2 |
|
Ventriculomegaly, Spastic tetraplegia, Intracranial hemorrhage, Hemiplegia, Growth delay |
OMIM:614483 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Humeroradial synostosis, Oligodactyly |
OMIM:614416 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Ventriculomegaly, Lateral ventricle dilatation, Kyphosis, Micrognathia, Hip dislocation, Spina bi... |
OMIM:618291 |
| Meckel Syndrome, Type 9 |
|
Occipital encephalocele |
OMIM:614209 |
| Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Cleft palate, Thoracic pl... |
OMIM:108720 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilateral cleft lip, Short femur, Hol... |
OMIM:601357 |
| Sneddon Syndrome |
|
Ischemic stroke, Decreased circulating total IgM, Cerebral hemorrhage, Hypertension, Lymphopenia,... |
OMIM:182410 |
| Von Willebrand Disease, Type 1 |
|
Persistent bleeding after trauma, Bruising susceptibility, Impaired platelet aggregation, Epistax... |
OMIM:193400 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele |
OMIM:615397 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Bruising s... |
OMIM:601399 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hypoplastic pubic bone, Hypoplastic ilia, Short long bone, Micrognathia, Hydroceph... |
ORPHA:1865 |
| Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Cleft palate, Unilateral cleft lip |
ORPHA:63862 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Deviation of finger, Abnormal platelet function, Venous insufficiency |
ORPHA:903 |
| Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
| Joubert Syndrome |
|
Encephalocele, Foot polydactyly, Oculomotor apraxia, Hydrocephalus, Hand polydactyly, Ataxia, Tre... |
ORPHA:475 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Short hall... |
ORPHA:90652 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Acromelic Frontonasal Dysplasia |
|
Meningocele, Aplasia/Hypoplasia of the tibia, Encephalocele, Patellar hypoplasia, Ventriculomegal... |
ORPHA:1827 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Genu varum, Hyperlordosis, Progressive leg bowing, Short lower limbs, Hip dysplasia, Disproportio... |
ORPHA:2501 |
| Primary Angiitis Of The Central Nervous System |
|
Parkinsonism, Hemiparesis, Transient ischemic attack, Paraparesis, Paralysis, Cerebral vasculitis... |
ORPHA:140989 |
| Familial Cervical Artery Dissection |
|
Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia, Paralysis, Hypert... |
ORPHA:36382 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly |
OMIM:611808 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired platelet aggregation, Meno... |
OMIM:617443 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaire... |
OMIM:139090 |
| Snakebite Envenomation |
|
Hypotension, Respiratory paralysis, Cerebral ischemia, Pseudobulbar paralysis, Cardiogenic shock,... |
ORPHA:449285 |
| Hermansky-Pudlak Syndrome 7 |
|
Post-partum hemorrhage, Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Menorr... |
OMIM:614076 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Clinodactyly, ... |
OMIM:603585 |
| Frontorhiny |
|
Camptodactyly of finger, Encephalocele, Cranium bifidum occultum, Hypoplastic frontal sinuses, Bi... |
ORPHA:391474 |
| Sneddon Syndrome |
|
Chorea, Hemiparesis, Intracranial hemorrhage, Hypertension, Arterial stenosis, Tremor |
ORPHA:820 |
| Mgat2-Cdg |
|
Patent ductus arteriosus, Decreased lymphocyte proliferation in response to mitogen, Decreased ci... |
ORPHA:79329 |
| Meckel Syndrome, Type 5 |
|
Cleft upper lip, Anencephaly, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palat... |
OMIM:611561 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate,... |
OMIM:607361 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Intestinal bleeding, Menorrhag... |
OMIM:605735 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Oculomotor ... |
ORPHA:397715 |
| Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
| Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
| Congenital Factor Ii Deficiency |
|
Anemia, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracrania... |
ORPHA:325 |
| Pentalogy Of Cantrell |
|
Non-midline cleft lip, Encephalocele, Anencephaly, Hydrocephalus, Polysplenia, Abnormality of tib... |
ORPHA:1335 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Abnormal vertebral morphology, Coarctation of aorta |
ORPHA:280195 |
| Pai Syndrome |
|
Encephalocele, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate |
ORPHA:1993 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... |
OMIM:608233 |
| Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
| Fetal Gaucher Disease |
|
High palate, Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Hypertonia, Stillbirth, Abn... |
ORPHA:85212 |
| Mirage Syndrome |
|
Patent ductus arteriosus, Leukopenia, Anemia, Radial club hand, Petechiae, Short stature, Hydroce... |
OMIM:617053 |
| Duplication Of The Pituitary Gland |
|
Retrognathia, Encephalocele, Wide mouth, Short stature, Supernumerary tooth, Lower limb spasticit... |
ORPHA:314621 |
| Quebec Platelet Disorder |
|
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi... |
OMIM:601709 |
| Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation |
OMIM:173420 |
| Lissencephaly 4 |
|
Short stature, Babinski sign, Growth delay, Hypertonia, Agenesis of corpus callosum, Colpocephaly |
OMIM:614019 |
| Arachnoid Cyst |
|
Encephalocele, Hemiparesis, Paraparesis, Hydrocephalus, Holoprosencephaly, Slurred speech, Tetrap... |
ORPHA:2356 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spasticity, Ischemic stroke, Cerebral hemorrhage, Parkinsonism, Transient ischemic attack, Cerebr... |
ORPHA:136 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Cleft upper lip, Encephalocele, Patellar hypoplasia, Ventriculomegaly, ... |
OMIM:603671 |
| Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short phalanx of finger, Retrognathia, Moyamoya phenomenon, Long philtrum, Small hand, Abnormal c... |
OMIM:300845 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Cleft upper lip, Broad proximal phalanges of the hand, Cleft palate, Sho... |
OMIM:607597 |
| Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hypoplasia of the thymus, Hematemesis, Prolonged bleeding time, Thrombocyto... |
ORPHA:906 |
| Neurocutaneous Melanocytosis |
|
Meningocele, Ventriculomegaly, Hemiparesis, Intracranial hemorrhage, Dandy-Walker malformation |
ORPHA:2481 |
| Pseudotrisomy 13 Syndrome |
|
2-3 toe syndactyly, Cleft upper lip, Encephalocele, Hydrocephalus, Median cleft lip and palate, P... |
OMIM:264480 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Prolonged bleeding after surgery, Petechiae, Spontaneous... |
ORPHA:274 |
| Holoprosencephaly |
|
Spinal dysraphism, Median cleft lip, Holoprosencephaly, Tooth agenesis, Abnormal form of the vert... |
ORPHA:2162 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Foot polydactyly, Hydrocephalus, Hand polydactyly, Ataxia, Scoliosis |
ORPHA:2318 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Holoprosencep... |
OMIM:253800 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Coxa valga, Micrognathia, Flattened epiphysis, Tooth agene... |
OMIM:618363 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Abnormal neutrophil count, Bone marrow hypocell... |
ORPHA:3226 |
| Hypophosphatasia, Infantile |
|
Vertebral clefting, Anemia, Metaphyseal cupping, Short lower limbs, Intracranial hemorrhage, Unos... |
OMIM:241500 |
| Afibrinogenemia, Congenital |
|
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... |
OMIM:202400 |
| Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Reduced natural killer cell count, Decreased circulating total IgM, Cerebral vasculitis, Recurren... |
OMIM:243700 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Narrow palate, High palate, Long philtrum, Hydrocephalus, Dandy-... |
OMIM:605627 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Petechiae, Cerebral palsy, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Neona... |
ORPHA:853 |
| Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Absent platelet dense granule... |
OMIM:614074 |
| Hermansky-Pudlak Syndrome 6 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:614075 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Abnormal pyramidal sign, Cerebral hemorrhage, Ataxia, Tremor, Stroke, Dystonia |
ORPHA:542310 |
| Iniencephaly |
|
Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Mandibular aplasia, Rhizomelia... |
ORPHA:63259 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Asplenia, Ventriculomegaly, Micrognathia, Radial deviation of finger, Sm... |
OMIM:249000 |
| Treacher-Collins Syndrome |
|
Blepharospasm, Hypoplasia of the thymus, Micrognathia, Tooth agenesis, Cleft palate, Glossoptosis... |
ORPHA:861 |
| Hermansky-Pudlak Syndrome 11 |
|
Bruising susceptibility, Epistaxis, Gingival bleeding, Menorrhagia, Reduced platelet dense granul... |
OMIM:619172 |
| Meckel Syndrome 14 |
|
Retrognathia, Micrognathia, Microretrognathia, Postaxial foot polydactyly, Syndactyly, Holoprosen... |
OMIM:619879 |
| Joubert Syndrome With Hepatic Defect |
|
Oculomotor apraxia, Hydrocephalus, Ataxia, Tremor, Scoliosis, Portal hypertension, Postaxial hand... |
ORPHA:1454 |
| Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Hemiparesis, Atherosclerosis, Transient ischemic attack, Hypertension, Intr... |
ORPHA:231160 |
| Immune Thrombocytopenia |
|
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... |
ORPHA:3002 |
| Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... |
ORPHA:326 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Retrognathia, Moyamoya phenomenon, Ischemic stroke, Long philtrum, Cerebral hemorrhage, Short sta... |
ORPHA:280679 |
| Frontofacionasal Dysplasia |
|
Non-midline cleft lip, Short stature, Encephalocele, Cleft palate |
ORPHA:1791 |
| Moderate Hemophilia A |
|
Hip contracture, Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial he... |
ORPHA:169805 |
| Acquired Von Willebrand Syndrome |
|
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Normocytic anemia, Intrac... |
ORPHA:99147 |
| Congenital Factor Xiii Deficiency |
|
Myeloid leukemia, Cerebral hemorrhage, Subcutaneous hemorrhage, Post-partum hemorrhage, Persisten... |
ORPHA:331 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Hyd... |
ORPHA:90065 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Chorea, Retinal hemorrhage, Ventriculomegaly, Rigidity, Limb dystonia, Communicating hydrocephalu... |
ORPHA:25 |
| Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
| Abeta Amyloidosis, Iowa Type |
|
Myoclonus, Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... |
ORPHA:35909 |
| Joubert Syndrome 2 |
|
Encephalocele, High palate, Oculomotor apraxia, Hydrocephalus, Ataxia, Postaxial foot polydactyly... |
OMIM:608091 |
| Menkes Disease |
|
Short stature, Intracranial hemorrhage, Babinski sign, Metaphyseal widening, Hypertonia, Intraute... |
OMIM:309400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retrognathia, Encephalocele, Ventriculomegaly, Hydrocephalus, Adducted thumb, Partial agenesis of... |
OMIM:614643 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Encephalocele, Ventriculomegaly, Hydrocephalus, Macroglossia, Scoliosis, Cleft p... |
OMIM:613150 |
| Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
| Severe Hemophilia A |
|
Anemia, Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising ... |
ORPHA:169802 |
| Chédiak-Higashi Syndrome |
|
Spastic paraplegia, Hepatosplenomegaly, Thrombocytopenia, Abnormal leukocyte morphology, Vacuolat... |
ORPHA:167 |
| Pseudohypoparathyroidism Type 1A |
|
Broad distal phalanx of the thumb, Enamel hypoplasia, Short 4th metacarpal, Short 5th metacarpal,... |
ORPHA:79443 |
| Osteogenesis Imperfecta |
|
Noncommunicating hydrocephalus, Ventriculomegaly, Delayed eruption of teeth, Micrognathia, Disloc... |
ORPHA:666 |
| Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... |
ORPHA:49042 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Gait ataxia, Hyperextensibility of the finger joints, Abnormal lateral ventricle morphology, Hype... |
ORPHA:488635 |
| Sitosterolemia 1 |
|
Stomatocytosis, Carotid artery stenosis, Anemia, Abnormal bleeding, Reticulocytosis, Impaired pla... |
OMIM:210250 |
| Factor X Deficiency |
|
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Prolonged prothrombin time, Menorrhagia, P... |
OMIM:227600 |
| Vacterl/Vater Association |
|
Non-midline cleft lip, Preaxial hand polydactyly, Finger syndactyly, Vertebral segmentation defec... |
ORPHA:887 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
| Wyburn-Mason Syndrome |
|
Vascular dilatation, Cerebral palsy, Abnormal cerebral vascular morphology, Hemiparesis, Cerebral... |
ORPHA:53719 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Paralysis, Cerebral hemorrhage |
OMIM:603285 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Cerebral hemorrhage, Short finger, Clinodactyly, Syndactyly, Stroke |
OMIM:300049 |
| Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transient ischemic att... |
ORPHA:284388 |
| Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time,... |
ORPHA:49566 |
| Hemophilia B |
|
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... |
ORPHA:98879 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... |
OMIM:300835 |
| Hermansky-Pudlak Syndrome 8 |
|
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Excessive bleeding from superf... |
OMIM:614077 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Hemiparesis, Arteriovenous malformation, Intracranial hemorrhage, Hemiplegia,... |
ORPHA:624 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
| Alg13-Cdg |
|
Adducted thumb, Clumsiness, Abnormal lateral ventricle morphology, Long philtrum |
ORPHA:324422 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... |
OMIM:613225 |
| Joubert Syndrome 8 |
|
Oculomotor apraxia, Occipital encephalocele, Ataxia, Hypertonia |
OMIM:612291 |
| Meckel Syndrome, Type 6 |
|
Cleft upper lip, Anencephaly, Hydrocephalus, Postaxial foot polydactyly, Postaxial hand polydacty... |
OMIM:612284 |
| Aspergillosis |
|
Abnormal long bone morphology, Intracranial hemorrhage, Sinusitis, Eosinophilia, Stroke, Neutrope... |
ORPHA:1163 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Anemia, Short 5th finger, Bulbous tips of toes, Hyp... |
ORPHA:163979 |
| Autoerythrocyte Sensitization Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Autoimmune thrombocytopenia, Abnormal erythrocy... |
ORPHA:324636 |
| Frontonasal Dysplasia 2 |
|
Conical tooth, Encephalocele, Widely spaced teeth, Intrauterine growth retardation, Broad philtrum |
OMIM:613451 |
| Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Conical tooth, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody... |
OMIM:301081 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Anemia, Limb hypertonia, Short stature, Pancytopenia, Thrombocytopenia, Ne... |
OMIM:606054 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... |
ORPHA:91387 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Cerebral hemorrhage, Epiphyseal stippling, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:277450 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Preaxial hand polydactyly, Exencephaly, Encephalocele, Finger syndactyly, Long philtrum, Broad th... |
ORPHA:2211 |
| Dengue Fever |
|
Hypotension, Leukopenia, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Ging... |
ORPHA:99828 |
| Triopia |
|
Cleft palate, Encephalocele, Median cleft lip |
ORPHA:3374 |
| Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Cerebral Visual Impairment |
|
Ischemic stroke, Cerebral palsy, Clumsiness, Oculomotor apraxia, Hydrocephalus, Intracranial hemo... |
ORPHA:447788 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Holoprosencephaly, Narr... |
ORPHA:2166 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Hypoplasia of the frontal bone, Cranium bifidum occultum, Hypoplasia of ... |
ORPHA:306542 |
| Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... |
ORPHA:31825 |
| Kaposiform Lymphangiomatosis |
|
Anemia, Abnormality of the ischium, Epidural hemorrhage, Abnormal spleen morphology, Abnormal lym... |
ORPHA:464329 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... |
OMIM:616053 |
| Spondyloenchondrodysplasia |
|
Ventriculomegaly, Delayed eruption of teeth, Disproportionate short-trunk short stature, Spastici... |
ORPHA:1855 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Meckel Syndrome |
|
Asplenia, Preaxial hand polydactyly, Encephalocele, Furrowed tongue, Aplasia/Hypoplasia of the to... |
ORPHA:564 |
| Limb Body Wall Complex |
|
Encephalocele, Myelomeningocele, Cutaneous finger syndactyly, Spina bifida, Short umbilical cord,... |
ORPHA:2369 |
| Hemophilia A |
|
Intracranial hemorrhage, Splenic rupture, Bleeding with minor or no trauma, Oral cavity bleeding,... |
ORPHA:98878 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Coxa valga, Ventriculomegaly, Cerebral palsy, High palate, Deep philtrum, Hip dysplasia, Microgna... |
OMIM:619833 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Encephalocele, Finger syndactyly, Small hand, Kyphosis, Abnormal... |
ORPHA:2911 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Short philtrum, Abnormal bleeding, Bruising... |
OMIM:185070 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cleft upper lip, Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Hydrocephalus, Meni... |
OMIM:236670 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Nasofrontal encephalocele, Hydrocephalus, Ventriculomegaly |
OMIM:614195 |
| Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Ventriculomegaly, Petechiae, Lateral ventricle dilatation, Cerebral hem... |
OMIM:617397 |
| 4Q21 Microdeletion Syndrome |
|
Small hand, Ventriculomegaly, Kyphosis, Toe syndactyly, Short philtrum, Downturned corners of mou... |
ORPHA:238750 |
| Holoprosencephaly 5 |
|
Syntelencephaly, High palate, Lateral ventricle dilatation, Deep philtrum, Hydrocephalus, Semilob... |
OMIM:609637 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Retrognathia, High palate, Ventriculomegaly, Short stature, Thick lower lip vermilion, Micrognath... |
OMIM:618342 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Hip contracture, Cerebral hemorrhage, Osteolysis involvi... |
ORPHA:464321 |
| Band Heterotopia |
|
Spasticity, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Agenesis of corpus cal... |
OMIM:600348 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... |
OMIM:615157 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Purpura, Cerebral hemorrhage |
OMIM:614514 |
| Parkes Weber Syndrome |
|
Vascular dilatation, Bounding pulse, Arteriovenous malformation, Cerebral arteriovenous malformat... |
ORPHA:90307 |
| Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Cleft upper lip, Encephalocele, Ventriculomegaly, Toe syndactyly... |
OMIM:100300 |
| Menkes Disease |
|
Chorea, Spasticity, Vascular dilatation, Abnormal carotid artery morphology, Micrognathia, Intrau... |
ORPHA:565 |
| Orofaciodigital Syndrome Xiv |
|
Patent ductus arteriosus, Lobulated tongue, Bifid tongue, Natal tooth, Micrognathia, Aplasia of t... |
OMIM:615948 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ... |
OMIM:253010 |
| Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... |
OMIM:227500 |
| Cleidocranial Dysplasia |
|
Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia, Spina bifida ... |
ORPHA:1452 |
| Noonan Syndrome |
|
High palate, Short stature, Thick lower lip vermilion, Micrognathia, Abnormal platelet function, ... |
ORPHA:648 |
| Pagod Syndrome |
|
Meningocele, Sudden cardiac death, Abnormal aortic morphology, Encephalocele, Short stature, Spin... |
ORPHA:991 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Colpocephaly |
OMIM:614870 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Spastic tetraplegia, Myoclonus, Scoliosis, Prolonged prothrombin time, Clonus, Intraventricular h... |
OMIM:619055 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Parkinsonism, Hemiparesis, Tremor, Scoliosis, Dystonia, Bradykinesia |
ORPHA:306669 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Spasticity, High palate, Long philtrum, Lateral ventricle dilatation, Clumsiness, Paraparesis, My... |
OMIM:617854 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Tremor, Limb dysmetr... |
OMIM:213600 |
| 49,Xxxxy Syndrome |
|
Pulmonary embolism, Mandibular prognathia, Coxa valga, Short stature, Delayed eruption of teeth, ... |
ORPHA:96264 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, High palate, Kyphosis, Premature occlusive vascular stenosis, Cerebral hemorr... |
OMIM:177850 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Poor fine motor coordination, Pulmonary embolism, Pulmonary arterial hypertension, Megaloblastic ... |
ORPHA:79282 |
| Joubert Syndrome 39 |
|
Oculomotor apraxia, Occipital encephalocele, Postaxial polydactyly, Joint contracture of the 5th ... |
OMIM:619562 |
| Familial Afibrinogenemia |
|
Epistaxis, Abnormal bleeding, Gingival bleeding, Cerebral hemorrhage |
ORPHA:98880 |
| Tempi Syndrome |
|
Telangiectasia, Increased hematocrit, Intracranial hemorrhage, Polycythemia, Increased circulatin... |
ORPHA:284227 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Hemoperitoneum, Subcutaneous hemorrhage, Post-partum hemorrhage, Epidural hemorrhage, Persistent ... |
ORPHA:465 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hyperlordosis, Anemia, Short stature, Hypertension, Arterial stenosis, Tremor, Hypertonia, Corona... |
ORPHA:1192 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Dilated third ventricle, Resting tremor, Lateral ventricle dilatation, ... |
ORPHA:363654 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Lateral ventricle dilatation, Micrognathia, Camptodactyly, Butterfly vertebrae, Smooth philtrum, ... |
OMIM:611209 |
| Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, 2-3 toe syndactyly, Torsade de pointes, Micrognathia, Ventri... |
ORPHA:37553 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Cerebral palsy, Intracranial hemorrhage, Hypertension, Spastic p... |
ORPHA:369929 |
| Hereditary Hemorrhagic Telangiectasia |
|
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... |
ORPHA:774 |
| Constricting Bands, Congenital |
|
Cleft upper lip, Encephalocele, Hand polydactyly, Syndactyly, Scoliosis, Cleft palate |
OMIM:217100 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, High palate, Small hand, Lateral ventricle dilatation, High, narrow pal... |
OMIM:612863 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Tachycardia, Abnormal left ventricular function, Subdural hemorrhage... |
ORPHA:99827 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... |
ORPHA:79 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ventriculomegaly, Spastic tetraplegia, Limb hypertonia, Long philtrum, Ataxia, Dysmetria, Tremor,... |
OMIM:617710 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Lateral ventricle dilatation, Apraxia, Hand tremor, Ataxia, Babinski sign, Dystonia |
OMIM:615889 |
| Autosomal Dominant Cerebellar Ataxia |
|
Tongue atrophy, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action t... |
ORPHA:99 |
| Classic Homocystinuria |
|
Pulmonary embolism, Genu valgum, High palate, Kyphosis, Subcutaneous hemorrhage, Arteriovenous ma... |
ORPHA:394 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Genu valgum, Mandibular prognathia, Anemia, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, Diap... |
OMIM:259710 |
| Roberts-Sc Phocomelia Syndrome |
|
Absent thumb, Tetraphocomelia, Micrognathia, Phocomelia, Radial deviation of finger, Cleft palate... |
OMIM:268300 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... |
OMIM:263400 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Mandibular prognathia, Cerebral palsy, Lateral ventricle dilata... |
OMIM:618914 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Spasticity, High palate, Limb hypertonia, Short stature, Clinodactyly of the 5th finger, Thin upp... |
OMIM:618480 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Spasticity, Rhizomelia, Micrognathia, Myoclonus, Choreoathetosis, Abnormal bleeding, ... |
OMIM:616271 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology, Ataxia, Babinski sign |
ORPHA:73256 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Chromosome 18Q Deletion Syndrome |
|
Ascending tubular aorta aneurysm, Ventriculomegaly, Toe syndactyly, Bifid uvula, Overlapping toe,... |
OMIM:601808 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Spasticity, Ventriculomegaly, Anencephaly, Hydrocephalus, Communicating hydrocephalus, Agenesis o... |
OMIM:615287 |
| Medulloblastoma |
|
Cerebellar ataxia associated with quadrupedal gait, Cerebellar hemorrhage, Hydrocephalus, Ataxia,... |
ORPHA:616 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Telangiectasia, Narrow palate, Long philtrum, Short stature, Subcutaneous hemorrhage, Arterioveno... |
ORPHA:109 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
High palate, Small hand, Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxia... |
OMIM:300055 |
| Amelocerebrohypohidrotic Syndrome |
|
Spasticity, Short stature, Hydrocephalus, Abnormal dental enamel morphology, Amelogenesis imperfe... |
ORPHA:1946 |
| Leukocyte Adhesion Deficiency |
|
Gingivitis, Acute myeloid leukemia, Recurrent aphthous stomatitis, Perianal abscess, Short statur... |
ORPHA:2968 |
| Halperin-Birk Syndrome |
|
High palate, Ventriculomegaly, Spastic tetraplegia, Pseudobulbar paralysis, Agenesis of corpus ca... |
OMIM:618651 |
| Knobloch Syndrome 2 |
|
Patent ductus arteriosus, Enamel hypoplasia, Micrognathia, Encephalocele |
OMIM:618458 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Delayed eruption of teeth, ... |
OMIM:614381 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Mucopolysaccharidosis, Type Vi |
|
Hypoplastic acetabulae, Delayed eruption of teeth, Sinus tachycardia, Flared iliac wing, Anterior... |
OMIM:253200 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx of the 4th toe, Ven... |
ORPHA:765 |
| Arnold-Chiari Malformation Type Ii |
|
Meningocele, Spasticity, Myelomeningocele, Aqueductal stenosis, Ventriculomegaly, Paraparesis, Hy... |
ORPHA:1136 |
| Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Congestive heart failure, Dilated cardiomyopathy, Hy... |
ORPHA:99901 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Poor fine motor coordination, Patent ductus arteriosus, Lateral ventricle dilatation, Short statu... |
OMIM:618330 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Leukopenia, Thrombocytopenia, Neutropenia, Cardiomyopathy |
OMIM:251000 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Tapered finger, Ventriculomegaly, Hydrocephalus, Short philtrum, Microretr... |
OMIM:613603 |
| Distal Monosomy 10Q |
|
Poor fine motor coordination, Tapered finger, Lateral ventricle dilatation, Oculomotor apraxia, M... |
ORPHA:96148 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Progressive spasticity, Paraparesis, Myoclonus, Choreoathetosis, Ataxia, Spastic para... |
ORPHA:726 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Scoliosis, Agenesi... |
OMIM:618736 |
| Fraser Syndrome 1 |
|
Difficulty in tongue movements, Aplasia/Hypoplasia of the thumb, Cleft upper lip, Wide pubic symp... |
OMIM:219000 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Paraparesis, Choreoathetosis, Ataxia, Tetraparesis, Macrocytic anemia, Thromb... |
ORPHA:27 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Brain abscess, Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epista... |
OMIM:187300 |
| Extracranial Carotid Artery Aneurysm |
|
Cerebral ischemia, Hemiparesis, Atherosclerosis, Arterial fibromuscular dysplasia, Arteritis, Hyp... |
ORPHA:494424 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hepatosplenomegaly, Abnormal metaphysis morphology, Gingival overgrowth,... |
ORPHA:354 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Paraparesis, Ataxia, Tremor, Scoliosis |
ORPHA:99014 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Cerebral hemorrhage, Hypertension, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Vater/Vacterl Association |
|
Triphalangeal thumb, Patent ductus arteriosus, Spina bifida, Short thumb, Hypoplasia of the radiu... |
OMIM:192350 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... |
OMIM:612736 |
| Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Shor... |
ORPHA:397946 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Parkinsonism, Short stature, Congestive heart failure, Kyphoscoliosis, Tremor, Lo... |
ORPHA:3077 |
| Hutchinson-Gilford Progeria Syndrome |
|
Coxa valga, Left ventricular diastolic dysfunction, Delayed eruption of teeth, Short lingual fren... |
ORPHA:740 |
| Osteogenesis Imperfecta, Type Xvii |
|
Short stature, Intraventricular hemorrhage, Scoliosis, Platyspondyly, Vertebral compression fract... |
OMIM:616507 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Cerebral amyloid angiopathy... |
OMIM:605714 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... |
OMIM:604928 |
| 16Q24.3 Microdeletion Syndrome |
|
High palate, Ventriculomegaly, Kyphosis, Long philtrum, Wide mouth, Hip dysplasia, Micrognathia, ... |
ORPHA:261250 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Shoulder dislocation, High palate, Cerebral hemorrhage, Short... |
ORPHA:536545 |
| Kohlschutter-Tonz Syndrome-Like |
|
2-3 toe syndactyly, Ventriculomegaly, Lateral ventricle dilatation, Delayed eruption of teeth, Sm... |
OMIM:619229 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Brain abscess, Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Sponta... |
OMIM:600376 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
2-3 toe syndactyly, Dilated fourth ventricle, Lobulated tongue, Ventriculomegaly, Lateral ventric... |
OMIM:613443 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short sternum, Retrognathia, Patent ductus arteriosus, High palate, Clinodactyly of the 4th toe, ... |
OMIM:620113 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Short philtrum, Cervical platyspondyly, Downturned corners of mouth, Tooth agenesis, Scoliosis, M... |
OMIM:618731 |
| Joubert Syndrome 21 |
|
Oculomotor apraxia, Occipital encephalocele, Ataxia |
OMIM:615636 |
| Frontofacionasal Dysplasia |
|
Hypoplasia of the frontal bone, Cleft upper lip, Cranium bifidum occultum, Bifid uvula, Malar fla... |
OMIM:229400 |
| Weaver Syndrome |
|
Poor fine motor coordination, Coxa valga, Ventriculomegaly, Lateral ventricle dilatation, Camptod... |
OMIM:277590 |
| Witteveen-Kolk Syndrome |
|
Ventriculomegaly, Toe syndactyly, Overlapping toe, Radial deviation of finger, Smooth philtrum, C... |
OMIM:613406 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Bone marrow hypocellularity, Thrombocytopenia, Postnatal growth retardati... |
OMIM:612199 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Tapered toe, Tapered finger, Ventriculomegaly, Narrow palate,... |
OMIM:608836 |
| Knobloch Syndrome |
|
Patent ductus arteriosus, Occipital encephalocele, Hydrocephalus |
ORPHA:1571 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
| Martsolf Syndrome 2 |
|
Camptodactyly of finger, Spastic diplegia, Lateral ventricle dilatation, Short stature, Camptodac... |
OMIM:619420 |
| Fraser Syndrome |
|
Dental malocclusion, Cleft upper lip, Myelomeningocele, Encephalocele, Wide pubic symphysis, Fing... |
ORPHA:2052 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Spina bifi... |
OMIM:618060 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Hip dysplasia, Paraparesis, Scoliosis |
OMIM:302802 |
| Craniosynostosis 6 |
|
Lateral ventricle dilatation, Dandy-Walker malformation, Spina bifida occulta, Scoliosis, Agenesi... |
OMIM:616602 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Spastic diplegia, Decreased lymphocyte proliferation in response to mitogen, Neutropenia in prese... |
OMIM:613179 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Spasticity, Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Thin upper lip vermil... |
OMIM:619517 |
| Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... |
ORPHA:90068 |
| Knobloch Syndrome 1 |
|
Patent ductus arteriosus, Ventriculomegaly, Occipital meningocele, Ataxia, Spina bifida occulta, ... |
OMIM:267750 |
| Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Mandibular prognathia, Coxa valga, Wide anterior fontanel, High palate, ... |
OMIM:269300 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spasticity, Genu valgum, Spastic ataxia, Normal pressure hydrocephalus, Spastic tetraplegia, Spas... |
ORPHA:300570 |
| Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:403 |
| Idiopathic Hypereosinophilic Syndrome |
|
Pulmonary embolism, Anemia, Transient ischemic attack, Supraventricular arrhythmia, Neutrophilia,... |
ORPHA:3260 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Anemia, Petechiae, Intracranial hemorrhage, Internal hemorrhage, Ecchymosis, Shock, ... |
ORPHA:340 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Triphalangeal thumb, Dilated fourth ventricle, Spasticity, Lateral ventricle dilatation, Microgna... |
ORPHA:3078 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ankle clonus, High palate, Lateral ventricle dilatation, Short stature, Frequent falls, Scoliosis... |
OMIM:619995 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short 1st metacarpal, Short stature, Hypoplasia of the radius, Fused cervical verte... |
OMIM:609053 |
| Superficial Siderosis |
|
Abnormal pyramidal sign, Enlarged sylvian cistern, Abnormal vertebral artery morphology, Dysdiado... |
ORPHA:247245 |
| Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Prolonged QT interval, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
| Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:404 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Fasciculations, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor function, Paraparesis,... |
ORPHA:275872 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Rigidity, Paraparesis, Babinski sign, Truncal titub... |
OMIM:607483 |
| Joubert Syndrome 5 |
|
Oculomotor apraxia, Occipital encephalocele, Ataxia, Cleft palate |
OMIM:610188 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Tapered finger, 2-3 toe cutaneous syndactyly, Contracture of the proximal interphalangeal joint o... |
OMIM:300998 |
| Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Rigidity, Paraparesis, Torticollis, Parkinsonism with favorable respons... |
OMIM:606693 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Lateral ventricle dilatation, Hand tremor, Limb ataxia, Ataxia, Tongue fasciculations, Fasciculat... |
OMIM:607596 |
| Bilateral Generalized Polymicrogyria |
|
Spasticity, Spastic tetraplegia, Lateral ventricle dilatation, Eyelid myoclonus, Short stature, O... |
ORPHA:208447 |
| Viss Syndrome |
|
Aortic tortuosity, Ascending tubular aorta aneurysm, Bifid tongue, Cleft soft palate, Micrognathi... |
OMIM:619472 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Shortening of all distal phalanges of the fingers, Thin upper lip v... |
OMIM:615716 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Stomatitis, Glossitis, Growth delay, Cleft palate, Intraventricular hemorrh... |
ORPHA:79284 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, High palate, Ventriculomegaly, Limb hypertonia, Spastic tetraplegia, La... |
ORPHA:572798 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Micrognathia, Rocker bottom foot, Overlapping fingers |
OMIM:618266 |
| Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Toe syndactyly, Bifid uvula, Abnormal oral frenulum ... |
OMIM:200990 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
| Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Choreoathetosis, Acute lymphoblastic leukemia, Decre... |
OMIM:208900 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Dilated fourth ventricle, Lateral ventricle dilatation, Scoliosis, Open... |
OMIM:617751 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Dilated third ventricle, Lateral ventricle dilatation, Broad distal phalanx o... |
ORPHA:464738 |
| Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Hypertrophic cardiom... |
ORPHA:96 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Micrognathia, Myoclonus, Spastic tetraparesis, Hypertonia, Intraute... |
ORPHA:284417 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Ankle clonus, Limb hypertonia, Lateral ventricle dilatation, Babinski sign, Leg dystonia, Promine... |
ORPHA:565624 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand tremor, Incoordination, Babinski sign, Dysmetria, Tremor, Frequent falls |
OMIM:302800 |
| Riddle Syndrome |
|
Poor hand-eye coordination, Telangiectasia, Decreased circulating total IgM, Short stature, Clums... |
ORPHA:420741 |
| 48,Xxxy Syndrome |
|
Pulmonary embolism, Mandibular prognathia, Coxa valga, Delayed eruption of teeth, Taurodontia, Hi... |
ORPHA:96263 |
| Acute Liver Failure |
|
Hypotension, Hepatocellular necrosis, Hepatic necrosis, Abnormal bleeding, Incoordination, Ataxia... |
ORPHA:90062 |
| Craniofacial Microsomia |
|
Vertebral hypoplasia, Micrognathia, Cleft palate, Genu valgum, Branchial anomaly, Block vertebrae... |
OMIM:164210 |
| Cockayne Syndrome Type 3 |
|
Aortic root aneurysm, Enamel hypoplasia, Splenomegaly, Retinal hemorrhage, Kyphosis, Mild postnat... |
ORPHA:90324 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Progressive spastic paraplegia, Limb hypertonia, Spastic gait, Lower limb spasticity, Colpocephaly |
ORPHA:401815 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hyperlordosis, Arachnodactyly, Cardiomyopathy, Ventriculomegaly, Kyphosis, Spina bifida, Postnata... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hyperlordosis, Arachnodactyly, Cardiomyopathy, Ventriculomegaly, Kyphosis, Spina bifida, Postnata... |
ORPHA:363958 |
| Hellp Syndrome |
|
Hypotension, Hemolytic anemia, Cerebral hemorrhage, Microangiopathic hemolytic anemia, Decreased ... |
ORPHA:244242 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, Pulmonary hemorrhage, Panhypogammaglobulinemia, T lym... |
ORPHA:79124 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dilation of Virchow-Robin spaces, Microdontia, Dysplastic corpus callosum, Agenesis of corpus cal... |
OMIM:619955 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, Palate telangiectasia, Dilatation of mesent... |
OMIM:610655 |
| Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... |
ORPHA:454887 |
| Adams-Oliver Syndrome 2 |
|
Limb hypertonia, Lateral ventricle dilatation, Micrognathia, Hydrocephalus, Absent distal phalang... |
OMIM:614219 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocation, Cleft palate, Spasticity, Br... |
OMIM:164200 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Cervical spondylosis, Spastic paraplegia |
ORPHA:101005 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent thumb, Vascular dilatation, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus,... |
OMIM:602200 |
| Orofaciodigital Syndrome Type 1 |
|
Lip pit, Micrognathia, Median cleft lip, Postaxial hand polydactyly, Odontogenic neoplasm, Cleft ... |
ORPHA:2750 |
| Cach Syndrome |
|
Spasticity, Spastic diplegia, Lateral ventricle dilatation, Truncal ataxia, Hemiparesis, Limb ata... |
ORPHA:135 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171420 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Bifid tongue, Median cleft lip, Radial deviation of finger, Alveolar ridge overgrowt... |
OMIM:311200 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Lateral ventricle dilatation, Ataxia, Partial agenesis of the corpus callosum, ... |
ORPHA:79243 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Short tibia, Hip subluxation, Coxa valga, Abnormal long bone morphology,... |
ORPHA:356961 |
| Glutamine Deficiency, Congenital |
|
Lateral ventricle dilatation, Camptodactyly, Subependymal cysts, Thin vermilion border, Neonatal ... |
OMIM:610015 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Wide mouth, Short palm, Lateral ventricle dilatation |
OMIM:300982 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Bilateral superior vena cava with no bridging vein, Ventriculomegaly, Tricuspid regurgita... |
OMIM:618460 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Retrognathia, Mandibular prognathia, Coxa valga, High palate, Slender long bones with narrow diap... |
OMIM:620083 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
| Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Dilatation of the ventricular cavity, Abnormal cerebral arter... |
ORPHA:2177 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations |
ORPHA:231625 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Ventriculomegaly, Rigidity, Torticollis, Ataxia, Tremor, Tetraparesis, Myelopathy, Cervical myelo... |
OMIM:617186 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation, Orofacial cleft |
ORPHA:141091 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Gait ataxia, Thick upper lip vermilion, High palate, Lateral ventricle dilatation, Macrodontia, S... |
OMIM:618606 |
| 1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon, Ventriculomegaly |
ORPHA:401986 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Lateral ventricle dilatation, 2-3 finger syndactyly, Toe syndactyly, Abs... |
ORPHA:1692 |
| Wolfram Syndrome 1 |
|
Megaloblastic anemia, Sideroblastic anemia, Ataxia, Stroke-like episode, Tremor, Growth delay, Li... |
OMIM:222300 |
| Dpagt1-Cdg |
|
Anemia, Clinodactyly, Camptodactyly, Intracranial hemorrhage, Ataxia, Prolonged QT interval, Trem... |
ORPHA:86309 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Long philtrum, Intrauterine growth retardation, Hypertension, Microretrognathia, Ataxia, Hypertro... |
OMIM:614052 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Tetraparesis |
OMIM:105550 |
| Campomelic Dysplasia |
|
Short phalanx of finger, Irregular dentition, Spinal dysraphism, Hallux valgus, Micrognathia, Hip... |
OMIM:114290 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Spasticity, Hemolytic anemia, Ischemic stroke, Cerebral hemorrhage, Hemipares... |
OMIM:175780 |
| Spinal Arteriovenous Metameric Syndrome |
|
Arteriovenous malformation, Paraparesis, Congestive heart failure, Kyphoscoliosis, Spinal arterio... |
ORPHA:53721 |
| Malan Overgrowth Syndrome |
|
High palate, Ventriculomegaly, Lateral ventricle dilatation, Slender long bone, Episodic ataxia, ... |
ORPHA:420179 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly |
ORPHA:250972 |
| Aicardi-Goutières Syndrome |
|
Ventriculomegaly, Hemiplegia/hemiparesis, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Hypert... |
ORPHA:51 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Long philtrum, Lateral ventricle dilatation, Wide mouth, Thick lower lip vermilion, Clinodactyly ... |
OMIM:620075 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Tented upper lip vermilion, Long philtrum, Lateral ventricle dilatation, Progressive spasticity |
OMIM:619972 |
| Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Clinodactyly of the 5th finger, Proximal placement of thumb, Broad philtrum, Ex... |
OMIM:618619 |
| Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Short femur, Femoral bowing, Osteosclerosis of the ulna, Tetraparesis, Premature los... |
OMIM:602080 |
| Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Bifid uvula, Camptodactyly, Ascending aortic dissection, Thoracic aortic aneur... |
OMIM:613795 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Hydrocephalus, Intracranial hemorrhage, Abnormality of the sphenoid sinus |
ORPHA:91350 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Spastic tetraplegia, Cerebral palsy, Lateral ventricle dilatation, Limb dystonia, Myo... |
OMIM:619847 |
| Glycogen Storage Disease Ii |
|
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Macroglossia, Diaphragma... |
OMIM:232300 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Mandibular prognathia, Short stature, Thin upper lip vermilion, Subdural hemorrhage, Hypertonia, ... |
OMIM:619714 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hemiparesis, Agenesis of corpus callosum, Oromotor apraxia, Lateral ventricle dilatation |
ORPHA:300573 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Lateral ventricle dilatation, Micrognathia, Hip dislocation, Short femur, Cleft vertebral arch, B... |
OMIM:210710 |
| Aicardi-Goutieres Syndrome 9 |
|
Spasticity, Anemia, Hemolytic anemia, Spastic tetraplegia, Spastic diplegia, Lateral ventricle di... |
OMIM:619487 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... |
OMIM:606159 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
High palate, Wide anterior fontanel, Tricuspid regurgitation, Heart murmur, Micrognathia, Epiphys... |
OMIM:614866 |
| Noonan Syndrome 14 |
|
Long philtrum, Kyphosis, Lateral ventricle dilatation, Wide mouth, Short stature, Clinodactyly, L... |
OMIM:619745 |
| Rift Valley Fever |
|
Retinal hemorrhage, Anemia, Hemiparesis, Paraparesis, Paralysis, Abnormal bleeding, Gingival blee... |
ORPHA:319251 |
| Cockayne Syndrome A |
|
Ventriculomegaly, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Splenomegaly,... |
OMIM:216400 |
| Bartter Syndrome, Type 2, Antenatal |
|
Short stature, Low-to-normal blood pressure, Impaired platelet aggregation |
OMIM:241200 |
| Unilateral Hemispheric Polymicrogyria |
|
Hemiparesis, Lateral ventricle dilatation |
ORPHA:101071 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Hyperlordosis, Blepharospasm, Kyphosis, Writer's cramp, Torticollis, Babinski sign, Torsion dysto... |
OMIM:128100 |
| Gabriele-De Vries Syndrome |
|
Pierre-Robin sequence, Hallux valgus, Finger joint hypermobility, Lateral ventricle dilatation, T... |
OMIM:617557 |
| Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
| Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Subdural hemorrhage |
OMIM:615368 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Spastic tetraparesis, Dystonia, Lateral ventricle dilatation |
OMIM:617668 |
| Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, 2-3 toe syndactyly, Micrognathia, Epiphyseal stippling, Hip dislocation, Bifid u... |
OMIM:270400 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Lateral ventricle dilatation, Apraxia, Myoclonus, Babinski sign |
OMIM:221770 |
| Chediak-Higashi Syndrome |
|
Gingivitis, Leukopenia, Anemia, Periodontitis, Spontaneous, recurrent epistaxis, Ataxia, Bruising... |
OMIM:214500 |
| Cerebrotendinous Xanthomatosis |
|
Spasticity, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Palatal tremor, Abnormality of... |
ORPHA:909 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
High palate, Long philtrum, Lateral ventricle dilatation, Short philtrum, Broad hallux, Tented up... |
OMIM:614105 |
| Holoprosencephaly 13, X-Linked |
|
Vertebral clefting, Double outlet right ventricle, Patent ductus arteriosus, Thoracic hemivertebr... |
OMIM:301043 |
| Alexander Disease |
|
Chorea, Hyperlordosis, Spasticity, Abnormal pyramidal sign, Tetraplegia, Aqueductal stenosis, Kyp... |
ORPHA:58 |
| Prader-Willi Syndrome Due To Translocation |
|
Lateral ventricle dilatation, Micrognathia, Bifid uvula, Overlapping toe, Everted lower lip vermi... |
ORPHA:177907 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis |
ORPHA:231445 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Lateral ventricle dilatation, Micrognathia, Subependymal cysts, Aortic regurgitation, Cardiomyopathy |
OMIM:600721 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Open mouth, Lateral ventricle dilatation |
OMIM:616816 |
| Glutaric Acidemia I |
|
Spastic diplegia, Lateral ventricle dilatation, Rigidity, Choreoathetosis, Hydrocephalus, Opistho... |
OMIM:231670 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating total IgM, Lateral ventricle dilatation, Hydrocephalus, Decreased c... |
OMIM:612301 |
| Meningioma |
|
Neoplasm of the tongue, Cerebral hemorrhage, Hemiparesis, Hydrocephalus, Syncope, Ataxia, Abnorma... |
ORPHA:2495 |
| Acute Transverse Myelitis |
|
Spasticity, Abnormality of extrapyramidal motor function, Paraparesis, Upper motor neuron dysfunc... |
ORPHA:139417 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Aortic atherosclerotic lesion, Intracranial hemorrhage, Congestive heart fa... |
ORPHA:363618 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Ventriculomegaly, Wide mouth, Deep philtrum, Mitral stenosis, Short sta... |
OMIM:617260 |
| Joubert Syndrome 3 |
|
Lateral ventricle dilatation, Oculomotor apraxia, Ataxia, Open mouth, Enlarged fossa interpeduncu... |
OMIM:608629 |
| Cog5-Cdg |
|
Camptodactyly of finger, Retrognathia, Genu valgum, High palate, Lateral ventricle dilatation, Sh... |
ORPHA:263487 |
| Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Renal artery sten... |
OMIM:171300 |
| Aceruloplasminemia |
|
Gait ataxia, Chorea, Blepharospasm, Parkinsonism, Rigidity, Torticollis, Limb ataxia, Congestive ... |
ORPHA:48818 |
| Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Tapered finger, Ventriculomegaly, Lateral ventricle dilatation, Microdontia, Broad h... |
OMIM:615873 |
| Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Lateral ventricle dilatation, Downturned corners of mouth, Thin vermilion ... |
OMIM:301025 |
| Bainbridge-Ropers Syndrome |
|
Retrognathia, High palate, Lateral ventricle dilatation, Wide mouth, Micrognathia, Dental crowdin... |
OMIM:615485 |
| Abeta Amyloidosis, Dutch Type |
|
Cerebral amyloid angiopathy, Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Intracranial hemorrhage, Short stature |
ORPHA:90795 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Spasticity, Lateral ventricle dilatation |
ORPHA:77299 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dilated third ventricle, Limb hypertonia, Spastic gait, Lateral ventricle dilatation, Short philt... |
OMIM:617296 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Increased circulating antibody level, Oculomotor ap... |
OMIM:606002 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Anemia, Delayed eruption of teeth, Premature loss of primary tee... |
ORPHA:667 |
| Cockayne Syndrome B |
|
Hypoplastic iliac wing, Dental malocclusion, Mandibular prognathia, Normal pressure hydrocephalus... |
OMIM:133540 |
| Aicardi Syndrome |
|
Dilated third ventricle, Cleft upper lip, Lateral ventricle dilatation, Block vertebrae, Spina bi... |
OMIM:304050 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Spasticity, Hypertonia, Lateral ventricle dilatation |
OMIM:618890 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dilated third ventricle, High palate, Long philtrum, Kyphosis, Lateral ventricle dilatation, Shor... |
OMIM:619244 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Wide anterior fontanel, Lateral ventricle dilatation, Long philtrum, Submucous cleft... |
ORPHA:457279 |
| Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Bifid tongue, Micrognathia, Taurodontia, Abnormal oral frenu... |
ORPHA:2751 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Retrognathia, Spasticity, Dilated third ventricle, Tapered toe, Tapered finger, Lateral ventricle... |
ORPHA:544488 |
| Farber Disease |
|
Short toe, Spasticity, Anemia, Short stature, Paraparesis, Myoclonus, Short finger, CNS foam cell... |
ORPHA:333 |
| Acys Amyloidosis |
|
Cerebral amyloid angiopathy, Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Micrognathia, Broad hallux, Abnormal subclavian artery morphology, Widened distal ph... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Micrognathia, Broad hallux, Abnormal subclavian artery morphology, Widened distal ph... |
ORPHA:353277 |
| X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Wide mouth, Lateral ventricle dilatation, Growth delay, Thick vermilion bo... |
ORPHA:85290 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Submucous cleft soft palate, Synostosis of the proximal phalanx of the thumb with ... |
OMIM:300967 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Microangiopathic hemolytic anemia, Reticulocytosis, Stroke, Myocardial... |
OMIM:274150 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Ventriculomegaly, Colpocephaly |
OMIM:615219 |
| Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... |
OMIM:612953 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent thumb, Patent ductus arteriosus after birth at term, Ventriculomegaly, Lateral ventricle d... |
ORPHA:500150 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lateral ventricle dilatation, Progressive spasticity, Parkinsonism, Abnormality of extrapyramidal... |
ORPHA:2822 |
| Gaucher Disease |
|
Pulmonary arterial hypertension, Anemia, Ventriculomegaly, Short stature, Increased circulating a... |
ORPHA:355 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Short stature, Hydrocephalus, Junctional ectopic tachycardia, Arrhyt... |
OMIM:309801 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Delayed eruption of primary teeth, Lateral ventricle dilatation, Car... |
OMIM:300952 |
| Williams Syndrome |
|
Sudden cardiac death, Aortic arch aneurysm, Hallux valgus, Abnormal carotid artery morphology, Ab... |
ORPHA:904 |
| Adrenoleukodystrophy |
|
Truncal ataxia, Paraparesis, Limb ataxia, Incoordination, Spastic paraplegia, Slurred speech |
OMIM:300100 |
| X-Linked Adrenoleukodystrophy |
|
Progressive spastic paraparesis, Hemiparesis, Clumsiness, Paraparesis, Paralysis, Incoordination |
ORPHA:43 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Cerebral hemorrhage, Clinodactyly of the 5th finger, Overlapping toe, H... |
OMIM:616682 |
| Nelson Syndrome |
|
Hypertension, Intracranial hemorrhage, Abnormality of the sphenoid sinus |
ORPHA:199244 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Lateral ventricle dilatation, Short stature, Hydrocephalus, Short philtr... |
OMIM:619575 |
| Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, 2-3 toe syndactyly, Truncal ataxia, Short femur, Hypoplastic vertebral b... |
ORPHA:3455 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Ventriculomegaly, Lateral ventricle dilatation, Short long bone, Short lingual frenulum, Microdon... |
OMIM:619479 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal pyramidal sign, Scolio |
