28101 to 28200 most common queries

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

• Rib Fusion at Multiple Points
• 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