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31701 to 31800 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
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
Glycine Decreased to Normal