Sitemap | Symptoma 28101 to 28200 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. Rib Number Reduced 1 Mb Duplication on Chromosome 2q31.1 Hypoplastic Triphalangeal Thumb Complex Hand Anomalies Tibial Shortening Ulnar Shortening Radial Shortening Membranous or Muscular Ventricular Septal Defect Thick Vermilion of Upper and Lower Lips Congenital Heart Defects (21%) Plexiform Neurofibroma (76%) Cutaneous Neurofibromas Subcutaneous Neurofibromas Accelerated Carpal Bone Age Large Hands (46%) Joint Laxity Increased Bone Cysts (50%) Malignant Peripheral Nerve Sheath Tumors (21%) Optic Glioma (19%) Lisch Nodules (Iris Hamartomas) in 93% Soft Fleshy Palms (50%) Attention Difficulties Hyperintensities (T2, 17%) Spinal Neurofibromas Speech Difficulties (48%) Delayed Cognitive Development and Learning Disabilities (93%) Some Phenotypic Overlap with Alpers Syndrome Onset in Infancy or Late Childhood Some Patients May Have Hepatic Dysfunction Decreased Activities of Complexes I and IV Body Temperature Instability Death by Age 2 Years Caused by Mutation in the Homolog of the S. Cerevisiae Alg11 Gene Di- and Asialo-Transferrin Increased Widespread Brain Calcifications C1Q Molecule Present but Dysfunctional Caused by Mutation in the KIAA0415 Gene (KIAA0415 613653-0001) Distal Symphalangism of 2nd-5th Toes Hypoplastic Metatarsals and Phalanges of the Great Toes Sandal-Toe Gap between Great and Second Toe Short Middle Phalanges of Second through Fifth Fingers Lymphedema Resolves by Age 3 Years Lymphedema of the Extremities Onset of Dysmorphic Features and Developmental Delay in Infancy Keratinized Purple Nodular Skin Lesions Intermediate Level of Cellular Sensitivity to UV Light Steroid-Resistant Nephrotic Syndrome Congenital Cardiac Defects No Autism Squared-Off Ears Hypoplastic Zygoma Long Midface Mutation in the RP1-Like Protein 1 Gene Focal Macular Electroretinogram Severely Reduced Full-Field Electroretinogram Normal Ophthalmoscopy Shows Normal Fundus Slowly Progressive Decreased Visual Acuity Electroretinogram Reduction as Early as 4 Years of Age Lack of Foveal Reflex Markedly Reduced or Completely Extinct Electroretinograms Markedly Constricted Visual Fields Severe Early Onset Eye Disease Pigmentary Retinopathy with Typical Bone Spicule Appearance Thin Body Hairs Yellowish Toenails Yellowish Fingernails Hypoplastic Flat Nails Mild Epidermolytic Hyperkeratosis Hard Scaly Skin Bilateral Partial Cutaneous Syndactyly Mutation in the YARS2 Gene Axonal Polyneuropathy Bulbar Palsy Contiguous Gene Syndrome due to Gene Duplication Mutation in the G Protein Signaling Modulator 2 Gene Caused by Mutation in the Transmembrane Protein 67 Gene Mild Cortical Atrophy Caused by Deletion of 3.7 Mb on Chromosome 6q13-q14 Onset of Calf Hypotrophy May Occur Earlier Onset of Muscle Weakness in Fifth Decade Cytochrome C Oxidase Negative Fibers Rarely Centralized Nuclei Muscle Biopsy Shows Abnormal Fiber Size and Variation EMG Shows Myopathic Pattern Hip Girdle Muscle Atrophy Thick Choroid Thick Sclera Lens-to-Eye Volume Ratio Increased Caused by a 1.37 Mb Deletion on 4q21 Encompassing 5 Genes Cerebral Ventricular Dilatation Speech Absent or Delayed Cytoplasmic Glycogen Depletion Central Vacuoles Containing PAS-Positive Material Hypertrophic Cardiomyocytes Marked Predominance of Type 1 Muscle Fibers Glycogen Depletion in Skeletal Muscle Onset in First Month of Life Absence of Lymph Nodes Mutation in the Lambda-Like Immunoglobulin Polypeptide 1 Gene Mutation in the CD81 Gene
