26401 to 26500 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Mutation in the Cytochrome C Oxidase Subunit VIIb Gene
• 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