31701 to 31800 most common queries

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

• Onset Usually at Birth but May Occur Later
• Hearing Loss Affects All Frequencies
• Prelingual Sensorineural Hearing Loss
• Phenotypic Overlap with Currarino Syndrome
• Considered to Be a Manifestation of the Caudal Regression Syndrome
• Coccyx Defects
• Hemisacrum
• Anterior Sacral Hemidefect
• Constipation due to Mass Effect of Meningocele
• Urinary Retention due to Mass Effect of Meningocele
• Anterior Sacral Lipoma
• Cysts Tend to Enlarge with Age
• Oromandibular Dyskinesia
• Onset between 7 and 18 Years
• Frequency in the Faroe Islands Increased
• Urine Carnitine Esters Increased
• Serum and Cerebrospinal Fluid Lactate Increased
• Depletion of mtDNA in Skeletal Muscle
• Peripheral Axonal and Demyelinating Neuropathy
• Imaging Shows Signal Abnormalities in Basal Ganglia
• No Mature Hair Follicles (Scalp Biopsy)
• Alopecia of Variable Severity
• Hyperpigmentation in Flexure Areas
• Brain MRI Shows Hypoplastic Pituitary
• Lower Motor Neuron Dysfunction
• Motor Deterioration in Second Decade
• Puberty Absent or Delayed
• Dysplasia of Nasal Bones with Midface Protrusion
• 2 Patients Described
• Translocation of Chromosomes 9 and 13
• Arnold-Chiari I Malformation
• Benign Parathyroid Hyperplasia
• Extinguished Electroretinograms in Second or Third Decade
• Bone Spicule Pigment Deposits Retinal
• Mutation in the PROM1 Gene
• Endolymphatic Hydrops Delayed Onset
• Unilateral Deafness - Childhood Onset
• Highly Penetrant, Low Morbidity
• Early Onset in Some Patients
• Caused by Mutation in the Cardiac Muscle Alpha Actin 1 Gene
• Septal Bulge of Left Ventricular Outflow Tract
• Variable Extent of Hypertrophy in Mutation Carriers
• Mutation in the Cysteine and Glycine Rich Protein 3 Gene
• Concentric Hypertrophy
• Mutation in the NFKBIA Gene
• Light, Sparse Hair
• Sweat Glands Absent
• Impaired Immune Responses
• Defective Production of NFKB1-Dependent Cytokines by Leukocytes
• Low or Normal Serum Immunoglobulins
• Hypoplastic Ears Fused to the Scalp
• See Also Junctional EB with Pyloric Atresia
• Usually Death in Infancy
• Mutation in the PLEC1 Gene
• Absence of Plectin-1 Immunostaining
• Hemidesmosomes May Be Disrupted
• Cleavage within the Lower Part of Basal Keratinocytes
• Variable Age of Onset Ranging from 11 to 50 Years
• Mutation in the DFNA5 Gene
• Duodenal Villous Atrophy
• Early Death in Most Cases
• Right Aortic Arch
• Unilobular Lung
• Hypoplasia or Absence of Optic Nerve
• Broad Flared Eyebrows
• Hypoplastic Renal Arteries
• Extreme Skin Fragility
• Congenital Absence of Skin in Some Areas - Aplasia Cutis
• Maternal Alpha Fetoprotein Increased if Fetus Affected
• Brain Hypomyelination
• Weakness of the Linea Alba
• Abdominal Wall Muscular Deficiency
• Nonsyndromic
• Telangiectatic Mucosal Blood Vessels
• Small Vessel Microangiopathy
• Dilation of Left Ventricular Chamber
• Dilation of Left Atrial Chamber
• Gradual Progression of Hearing Loss
• Caused by Mutation in the Myosin Viia Gene (MYO7A 276903-0011)
• Gently Sloping or Flat Audiogram
• Moderate Postlingual Sensorineural Hearing Loss
• Mild Vertigo
• Mild Vestibular Dysfunction
• Duodenal and-or Jejunal Atresia
• Hypoplastic or Absent Gall Bladder
• Hypoplastic or Annular Pancreas
• Allelic to Usher Syndrome Type 1D
• Onset Usually in Second or Third Decades
• Smooth Muscle May Also Become Involved
• Constipation due to Smooth Muscle Involvement
• Allelic Disorder to Autosomal Recessive Deafness Type 21 - DFNB21
• Hearing Loss May Be Stable or Progressive
• Prelingual or Childhood Onset
• Mutation in the TECTA Gene
• U-Shaped Audiogram
• Affects Mid to High Frequencies
• Contractures of the Metacarpophalangeal Joints
• Contractures of the Proximal Interphalangeal Joints
• Thumb Adduction
• Allelic Disorder to Osteoporosis Pseudoglioma Syndrome