Sitemap | Symptoma 26401 to 26500 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Ventricular Hypertrophy Uninvolved Unremarkable Skin No Intraepidermal or Subepidermal Cleavage in Perilesional Skin Perilesional Regeneration of Dermis Mild Perivascular Lymphocyte Infiltrate in Perilesional Skin Patchy Erythroderma on Cheeks and Chin Reticulolinear Skin Defects Over Face and Neck Long Upslanting Palpebral Fissures Eyelid Closure Limited Posteriorly Rotated Ears Asymmetric Face Reticulolinear Skin Defects Congenital Right-Sided Diaphragmatic Hernia Asymmetric Thorax Right-Sided Ureteral Duplication Left-Sided Renal Agenesis Female Carriers May Show Mild Learning Disabilities Abnormal Positioning of the Thumbs Mutation in the Homolog of the S Cerevisiae ALG13 Gene Phenotypic Overlap with Desbuquois Dysplasia Flexible Flat Feet Single Finger Flexion Crease on 2nd, 4th and 5th Fingers Bilateral Palmar Transverse Creases Brachymetacarpalia Range of Movement of Proximal Interphalangeal Joints Decreased Radial Head Subluxation Mild Metaphyseal Changes Patellae Dislocation - Lateral Displacement Vertebral Endplate Indentations Short Supple Neck Supernumerary Conical Tooth Dental Crowding Malocclusion Class 3 Hypodontia Esotropia - Hypermetropia - Strabismus Mild Bilateral Conductive Hearing Loss Low Posterior Hairline Mildly Disproportionate Short Stature Warm and Engaging Personality Favorable Response to Corticosteroids Variable Involvement of Hematologic Parameters Mutation in the GATA1 Gene Abnormal Platelet Morphology with Paucity of Granules Platelet Aggregation Impaired Trilineage Dysplasia Micromegakaryocytes Granulocyte Hypocellularity Bone Marrow Biopsy Shows Erythrocyte Hypocellularity Reticulocytes Decreased Fragmented Red Cells Abnormal Erythrocytes in Peripheral Blood Smear Late-Onset Thrombocytopenia Variable Neutropenia Allelic Disorder to CHILD Syndrome Onset of Seizures in Infancy Mutation in the NAD-P-H Steroid Dehydrogenase-Like Protein Long Limbs Caused by Mutation in the Synaptophysin Gene (SYP 313475-0001) Congenital Macroorchidism Mild Aminoaciduria Mild Ocular Nuclear Density Pancytopenia (in 2/3 Siblings) Short Stature (in 2/3 Siblings) Renal Insufficiency (in 2 of 3 Siblings) Absence of the Vas Deferens and Epididymis Bifid Scrotum Hypothyroidism (in 1/3 Siblings) Onset of Linear Striations between 5 Months and 6 Years Spatulate Distal Phalanges Duplicate Phalanges Nephrogenic Rests Caused by Mutation in the GATA-Binding Protein-1 Gene Abnormal RBC Morphology Dyserythropoietic Anemia Bone Marrow Biopsy Shows Increased Number of Abnormal Megakaryocytes Impaired Platelet Function Abnormal Platelet Maturation Platelets Have Increased Smooth Endoplasmic Reticulum Abnormal Membrane Complexes in Platelets Platelets Have Paucity of Granules Fine Motor Coordination Decreased Widespread Tau-Positive Glial and Neuronal Inclusions Mutation in the OFD1 Gene Affected Individuals Remain Ambulatory Dilatation of the Aortic Sinuses Significant Clinical Overlap with Sotos Syndrome Most Severe Type of Von Willebrand Disease Antigen Levels of VWF and Factor VIII Severely Decreased Possibly Later Onset of Hearing Loss Retinitis Pigmentosa Sector Type Defect in Conversion of Urocanic Acid to Formiminoglutamic Acid Episodic Aggression or Exaggerated Affection Seeking Straight Mouth Retrobulbar Venous Varix Hairy Forehead Dystonic Tongue Protrusion Clonidine Can Alleviate Hyperhidrosis Cold Induced Sweating Develops Late in the First Decade High Early Mortality Rate if Untreated Mutation in the Cytokine-Like Factor 1 Gene
