Sitemap | Symptoma 27801 to 27900 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Reticulated Pigmentation Telomerase Activity Decreased Avascular Necrosis of the Hip Bluish Discoloration of the Tongue Cerebellar Hypoplasia Learning Difficulties Reticulate Skin Pigmentation Ectopic Posterior Pituitary Bone Spicule Pigment in Periphery Attenuation of Retinal Vessels Waxy Pallor of Optic Discs Peripheral Vision Decreased Reduced Night Vision Persistent Atrial Fibrillation Mutation in the NCF4 Gene Neutrophils Show Defective Intracellular NADPH Oxidase Production Chronic Granulomatous Colitis Sperm Count Normal or Near-Normal Moderate Oligospermia Severe Oligospermia Cryptozoospermia Caused by Mutation in the Lipase N Gene (LIPN) Hypergranulosis Slight Erythema of Face Fine Whitish Scales Over Entire Surface of Skin Diffuse Lamellar Ichthyosis Onset in the Perinatal Period Acetyl-CoA Carboxylase Activity Decreased Urinary Excretion of 2-Ethyl-Hexanedioic Acid Urinary Excretion of 2-Ethyl-3-Hydroxy-Hexanoic Acid Urinary Excretion of 2-Ethyl-3-Keto-Hexanoic Acid Severe Brain Damage Brain MRI Abnormalities Improve with Time Subcortical Cysts in Temporal Lobe Mild Clumsiness Onset of Macrocephaly in 1st Year of Life Mutation in the HEPACAM Gene Subcortical Cysts May Occur Elsewhere Subcortical Cysts in Frontal and Temporal Lobes Diffuse White Matter Abnormalities (MRI) Moderate to Severe Hearing Loss Affecting all Frequencies Age at Onset and Severity More Variable in Females Carriers Age at Onset in Males: 3-7 Years Postlingual Onset Hearing Loss Initially Affects High Frequencies Normal Physical and Neurologic Development Mutation in the ERCC5 Gene No UV-Induced Skin Tumors Abnormal Sensitivity to UV-B Radiation Mild Cutaneous Changes Fair/blond Hair Dry Hair Tightly Curled or Wooly Hair Sparse to Absent Axillary Hair Sparse to Absent Eyebrows Hair Stops Growing at a Few Inches Beard and Moustache Hair Normal Normal Hair at Birth Longitudinal Ridging Pitted Nails Normal Nails Comedo-Like Remnant Hair Follicles Sparse Eyelashes Absence of Transverse Pontine Fibers Diffuse Cerebral Gliosis Cerebellar Hypoplasia Particularly of the Hemispheres Inability to Sit or Control Head Complete Alopecia in Approximately 75% of Patients Caused by Mutation in the Spartin Gene Tongue Dyspraxia Overgrowth of the Maxilla Ataxia (if Untreated) Later Onset: Slower Progression and Lesser Severity Neonatal and Late-Infantile Onset Onset Usually within First 4 Years of Life Mutation in the Sulfatase Modifying Factor 1 Gene Urinary Excretion of Mucopolysaccharides Activities of Multiple Sulfatases Decreased Broad Index Fingers Childhood-Onset Progressive Spastic Paraplegia Poor Vibratory Sense Abnormal EEG Activity during Sleep Upper Limbs Affected Mutation in the CDSN Gene IgE Levels Elevated Café Au Lait Spots on Trunk and Extremities Possibly Allelic to Cohen Syndrome Alopecia at the Occipital Defect Irregular White Dots at the Vitreoretinal Interface Persistent Fetal Vasculature Vitreous Attachment at the Disc Syneresis Occipital Dermal Sinus Tract Fatal in the Neonatal Period Upsweep of Anterior Scalp Hair Anteverted Upper Lip Round Facial Fullness Hypoplasia of the Abdominal Wall Musculature Fetal Ascites without Hydrops Large Birth Size
