Sitemap | Symptoma 28401 to 28500 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Progressive Contractures Retinal Dysplasia Hyperekplexia Poor Motor Development Chorioretinal Atrophy Chorioectopia Cobblestone Lissencephaly Complete or Partial Absence of the Corpus Callosum Brainstem Concavity Lack of Motor Development Mutation in the NADH Dehydrogenase 1 Alpha Subcomplex 10 Gene Thalamic Lesions Striatal Lesions Brainstem Lesions Hyperintense on T2-Weighted Imaging Apparent at Birth Elongated Second and Third Toes Shortened Distal Phalanges 'Monkey Wrench' Appearance of the Femoral Heads Narrowness of Intervertebral Disc Space Progressive Osteoarthritis Myopia Apparent with Age Increased Urinary Sulfatides Mast Cell Infiltration Mutation in the RNA Polymerase I Subunit C Gene Conductive Microtia Hearing Loss Zygomatic Complex Hypoplasia Linked to 10q24 Trisomy Caused by Duplication of at Least 325kb on 10q24 Conductive or Mixed Hearing Loss Maxillary Hypoplasia Hyperextensible Skin Broad Ends of Toes Broad Ends of Fingers - 'Pseudoclubbing' Increased Number of Carpal Ossification Centers Interphalangeal Joint Laxity Wrist Joint Dislocation Diaphyseal Incurving Metaphyses Enlarged Bilateral Knee Dislocation Bilateral Elbow Dislocation Mild Dysplasia of Hip Joints Osteopenia Evident in Childhood Bone Age Dissociated Hyperextensibility of Large Joints Thick Eyebrows Uplift of Earlobes Prominent Antitragus Dysmorphic Ears Microretrognathia Mild Chest Asymmetry Verbal Delay Arrested Hydrocephalus Immunologic Defects Are Variable Defective Humoral Response Abnormal Mitochondria Prominent Nasal Root Prominent Ears Triangular Facies Hypoinsulinemic Hypoglycemia Mutation in the AKT2 Gene Free Fatty Acids not Increased Branched-Chain Amino Acids Decreased Ketone Bodies Decreased Left-Sided Facial Hemihypertrophy Left-Sided Hemihypertrophy Hypoglycemia-Related Reduced Consciousness Mutation in the Phosphatidylinositol Glycan Class V Gene Ventral Septal Defect Bilateral Adducted Forefoot Hypoplastic Toes Hypoplastic Terminal Phalanges (Brachytelephalangy) Anorectal Anomalies Anovestibular Fistula Anteriorly Displaced Anus No Speech Development Urinary Excretion of Coproporphyrin I Increased Lack of Abnormal Hepatic Pigmentation Patients with MEB May Acquire Ability to Walk and a Few Words Majority of WWS Patients Dies within the First Year of Life Caused by Mutation in the Protein O-Mannosyltransferase-1 Gene Anterior Chamber Malformation Retinal Malformations Vitreoretinal Dysgenesis Absent Auditory Canals Virtually No Active Movement at Birth Pachygyria with Preferential Frontoparietal Involvement Severe Cerebellar Hypoplasia Fused Hemispheres Flattening of the Pons Mutation in the Solute Carrier Family 5 Member 2 Gene Extracellular Volume Depletion Renal Glucose Wasting Sensorineural Deafness Especially Affecting High Frequencies Hearing Loss is Variable Caused by Mutation in the Collagen, Type 4, Alpha-3 Gene Diffuse Glomerular Basement Membrane Lamellation Splitting of the Glomerular Basement Membrane Thickening of the Glomerular Basement Membrane Thinning of the Glomerular Basement Membrane Gross and Microscopic Hematuria
