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Bone-Spicule Pigmentation in Peripheral Retinal Pigment Epithelium Vascular Tortuosity Increased Prominent Scleral Vessels Thickened Sclera Bilateral Hyperopia Bilateral Axial Length Decreased Mutation in the PRKDC Gene Postaxial Polysyndactyly Overlapping Fingers Block of B Cell Differentiation Peripheral T Cells Decreased Wide Nasal Bridge Deep Set Eyes Micropenis Hypomyelination Small Hippocampi Profound Psychomotor Developmental Delay Caused by Mutation in the Tenascin Xb Gene Male-Pattern Baldness Slightly Elevated 24 Hour Mean Plasma Cortisol Caused by Mutation in the Laminin Alpha 1 Gene Macular Heterotopia Short Pons Elevation and Splaying of the Superior Cerebellar Peduncles Severe Respiratory Insufficiency Centralized Nuclei Increased Myopathic Features Seen on Biopsy Severe Neonatal Hypotonia Mutation in the ELOVL Fatty Acid Elongase 5 Gene Adrenocorticotropic Hormone Low Most Cases due to De Novo Mutations Interstitial Pneumonia Altered T-Cell Regulation Autoantibodies Increased Susceptibility to T Cell LGL Leukemia Mutation in the C2CD3 Gene Broad Duplicated Halluces Buccal Frenulae Microcephaly (5 SD) Incomplete Myelination Hyperlipidemia May be Partially Responsive to Fat Restricted Diet Facial Xanthomatous Eruptions Plasma Triglyceride Concentration High-Normal in Heterozygotes Lipoprotein Lipase Decreased Chylomicronemia - Refractory Fasting Relapsing Pancreatitis Low Body Weight < 10th Centile Onset before 10 Years of Age in All Patients Mutation in the SLC39A5 Gene Focal Atrophy of Choroid Axial Length Increased Mean Age at Onset: 48 Years (Range: 38-64 Years) Altered Horizontal Eye Movements Irregular Pursuit Inaccurate Saccades Abnormal Vertical Eye Movements Mutation in the METTL23 Gene Short, Upturned Nose Flat Occiput Delineation of the Basal Ganglia Decreased Mild to Severe Cognitive Impairment Caused by Mutation in the Cyclin D2 Gene Head Circumference Enlarged Vascular Malformations Connective Tissue Dysplasia Vasculitic Symptoms Associated with Cold Exposure Caused by Mutation in the Transmembrane Protein 173 Gene Vasculitis - Particularly of the Capillaries Macrophage Alveolitis Nailfold Capillary Tortuosity Eschar Formation Necrosis Leading to Amputation Acral Violaceous Plaques and Nodules Amputation Resulting from Acral Necrosis Transient Autoantibodies Postretinal Blindness Well Grooved Philtrum Postnatal Microcephaly Poor Linear Growth Frontotemporal Hypoplasia Hypoplastic Anterior Pituitary Gland Absent Posterior Pituitary Bright Spot Abnormal Hypothalamo-Pituitary Axis Cortisol Insufficiency Adrenocorticotropin Deficiency Hypothalamic Insufficiency Only Mild Lipodystrophic Appearance Death Usually Occurs in Childhood Onset of Encephalopathy between Ages 2 and 3 Years Caused by Mutation in the Seipin Gene Mild Loss of Subcutaneous and Visceral Adipose Tissue Lipoatrophic Appearance Gain-of-Function Mutation in the NPR2 Gene Echocardiogram and Ophthalmologic Examination Normal Mutation in the Natriuretic Peptide Receptor 2 Gene Bone-Specific Alkaline Phosphatase Increased Urine Cross-Linked N-Telopetide of Type 1 Collagen Increased Cross-Linked C-Terminal Telopeptide of Type 1 Collagen Increased Long Metatarsals Coxa Valga Deformity with Epiphyseal Dysplasia