Sitemap | Symptoma 29301 to 29400 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Intermittent Severe Sacroiliac Pain Uncharacterized Renal Disease Moderate to Severe Bilateral Nonprogressive Hearing Loss Mutation in the CLN6 Gene Good Response to Fibrinolytic Inhibitors Usually Delayed-Onset Bleeding after Challenge Degraded Platelet Alpha Granule Proteins Platelet Content of PLAU Increased Iridocorneal Angle Maldevelopment Absent Iris Stromal Pattern Dark Iris Color Dysplastic Heart Valves Total Anomalous Pulmonary Return Single Phalanx of the Thumb Duplication of the Thumb Caused by Mutation in the Immunoglobulin µ Gene Profound Hypogammaglobulinemia B-Cells Decreased or Absent Mutation in the CHRNE Gene Mutation in the CHRND Gene Mutation in the CHRNB1 Gene Mutation in the Cochlin Gene Atrophy of Cochlear and Vestibular Fibrocytes Superior Semicircular Canal Dehiscence Vestibular Involvement Postlingual Hearing Loss Dense or Normal Eyelashes Pale, Sensitive Skin Eczema (8 of 23) Wrinkly Skin Prominent Distal Phalanges Thick Lower Vermilion Narrow Nasal Bridge (12 of 22) Sagging Periorbital Skin Down-Slanting Palpebral Fissures (6/22) Narrow Palpebral Fissures Variable Microcephaly Early Onset Seizures Fetal Death usually Occurs Brachial Amelia Absence of Basal Ganglia Smooth Brain Surface Caused by Mutation in the Cadherin 23 Gene Progressive Low Frequency Sensorineural Hearing Loss Glycogen-Containing Cytosolic Vacuoles within Cardiomyocytes Enlarged Myocytes without Myofiber Disarray Mild Glycogenosis of Skeletal Muscle Females Are More Often Affected Onset at Age 6-15 Years Short Metatarsals Short Metacarpals Bone Fragmentation at Tendinous Insertions Cystic Lesions of Metaphyses Slipping of Multiple Epiphyses IgE Increased Antinuclear Antibody with Speckled Pattern Atrophic Breast Tissue Muscle Cramps May Affect Jaw Muscles Muscle Cramps Affect the Upper and Lower Limbs Painful, Recurrent Muscle Cramps Flat Femoral Head with Subluxation and Sloping Acetabulum Spondylolysis and Spondylolisthesis of L5 Clonus in Legs Caused by Mutation in the Histone Deacetylase 4 Gene Proximally Placed Fourth Toe Choriocapillaris Atrophy Upswept Frontal Hairline Limited Joint Flexion Cranial Bone Defects Irregularly Placed Teeth Mutation in the SPECC1-Like Protein Gene Calcaneovarus Deep Palmar Creases Ocular Hypoplasia Oromedial Canthal Clefting Oblique Orofacial Clefting Subcortical Nodular Lesions in Perivascular White Matter Cortical Simplification Severe Hearing Loss by Age 50 Years Onset between Ages 5 and 15 Years No Vestibular Impairment Loss of Mid- and Low-Frequencies Later High-Frequency Hearing Loss at Onset Postlingual Deafness Caused by Mutation in the GATA-Binding Protein-6 Gene Bilateral Pulmonary Artery Branch Stenosis Hypoplastic Pulmonary Artery Microcolon Gall Bladder Agenesis Pituitary Agenesis Estimated Mutation Carrier Rate of 1 in 350 Blurred or Cloudy Vision in Acute Phase Some Patients May Have Residual Muscle Weakness Improvement of Abnormal Muscle Biopsy and COX Deficiency Gradual Spontaneous Improvement in the First Year of Life Mutation in the Mitochondrial Glutamic Acid Transfer RNA Gene Carnitine in Acute Stage Decreased Pyruvate in Acute Stage Increased Lactate in Acute Stage Increased Creatine Kinase in Acute Stage Increased
