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Vertical Striations of Metaphyses High, Narrow Palate (50%) Bulbous Nasal Tip (95%) Pear-Shaped Nose (82%) Ptosis (50%) Upslanted Palpebral Fissures (68%) Pale Irides (45%) Large, Prominent Ears (59%) Broad Chin Long Face (74%) All Cases Are De Novo Nasal Speech (50%) Heart Defects (27%) Abnormal Hair Texture Abnormal Hair Pigmentation (55%) Pectus Excavatum (23%) Positional Foot Deformity (27%) Long, Slender Fingers (61%) Slender Lower Limbs Duplex Renal System Kidney - Urologic Anomalies Friendly Behavior (89%) Ventriculomegaly (38%) Caused by Mutation in the Desmocollin 2 Gene (DSC2) Weakness and Wasting of the Lower Limbs Small Onion Bulb Formation Abnormal Folding of the Myelin Sheath Loss of Myelin Sural Nerve Biopsy Shows Decrease in Myelinated Fibers Progressive Cerebral White Matter Atrophy Loss of Ability to Walk Later Developmental Delay (Apparent after the First Year of Life) Michel Aplasia Microtia Type 1 Mutation in the Fibroblast Growth Factor 3 Gene Skin Tags on the Upper Part of the Auricle Pontocerebellar Arachnoid Cyst Stenosis of the Jugular Foramen Gross Motor Skill Delay (Infancy) Neutrophil Maturation in Bone Marrow Intact Peripheral Neutrophil Counts Low Cytotoxic Activity of CD8+ T Cells Decreased IgG Decreased in Adolescence (in 2/4 Patients) Percentage of IgD+ IgM+ CD27+ Memory B Cells Decreased Percentage of Naive IgD+ IgM+ CD27+ B Cells Increased Total Number of CD19+ B Cells Increased Thick Fleshy Lips Wide, Open Mouth Downturned Pointed Nasal Tip Beaked Nasal Bridge Fleshy Ears High Cheekbones Protruding Lower Face Happy Personality Atrophy of the Frontal and Parietal Cortex Agenesis or Hypoplasia of the Corpus Callosum Ventricular Asymmetry Bulging of the Caudate Nuclei Unstable Ataxic Gait Limited Walking Abilities Poor or Absent Speech Development Normal Sclerae Alkaline Phosphatase Increased during Hyperplastic Callus Formation Metaphyseal Bands Adjacent to Growth Plate Hyperplastic Callus Calcified Interosseous Membrane - Forearms Anterior Radial Head Dislocation White to Faintly Blue Sclera Severe Ambulatory Restriction Onset of Fractures at Age 4-18 Months No Easy Bruisability Short Stature in Childhood Long Bone Deformity Bowed Extremities Bulbous Metaphyses Osteoid Volume Increased Fish Scale-Pattern of Lamellae Protrusio Acetabuli Unilateral or Bilateral Coxa Vara Vertebral Compression Fractures Bone Mineral Density Reduced Moderately Deforming Osteogenesis Imperfecta Lack of Treatment Results in Early Death Mutation in the PSAT1 Gene Cerebrospinal Fluid Glycine Decreased Cerebrospinal Fluid Serine Decreased Glycine Decreased Serine Decreased Generalized Brain Atrophy Jerky Movements Mutation in the Radixin Gene Symptoms Often Decrease or Remit with Age Favorable Response to Anticonvulsants Sensory Aura May Occur Frequency of 1 to 20 Episodes Per Day Episodes Last up to 2 Minutes Episodic Choreic Movements Absence of Foveal Pit Cone Responses Decreased (ERG) Rod Responses Extinguished on ERG