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41301 to 41400 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Responsive to Treatment
May Have Increased Serum Parathyroid Hormone
1-25-Dihydroxyvitamin D3 Increased
Curvatures of the Femur, Tibia, Fibula
'Bulging' Epiphyses
Thin Cortex
Mutation in the BSCL2 Gene
Mutation in the GARS Gene
Possibly Hammertoes
Pes Planus in Some
Pes Cavus in Some
Mildly Reduced Vibratory Sense in 10% of Patients
Motor Symptoms Develop Later - About 5 Years into Illness
Subtle Personality and Behavioral Changes Are Presenting Signs
Average Duration of Illness: 8 Years
Average Age of Onset 57 Years
Mutation in the CHMP2B Gene
Reclusive Behavior
Global Reduction in Cerebral Blood Flow on PET Scan
Cortical Neuronal Loss
Mutation in the RAB7 Gene
Dystrophic Toenail
Ulcers Often Lead to Infection and Amputation
Distal Ulcers due to Sensory Neuropathy
Distal Osteomyelitis or Necrosis due to Sensory Neuropathy
Marked Distal Sensory Impairment
Normal Sialophorin Gene
Small and Large Vessel Vasculitis
CD43 Defectively Expressed on Surface of Blood Cells
Small Platelet Size
IgG Normal
CD8+ Cells Subset Decreased
CD4+ Cell Subset Decreased
Decreased CD3+ Cells Subset
Abnormally Delayed Hypersensitivity in Skin Test
Moderately Depressed Antibody Response to Polysaccharide Antigens
Shovel-Shaped Maxillary Central Incisors
Anterior Overbite
Long, Slender Phalanges
Long Slender Metacarpals
Long Thumbs
Hypoplastic Distal Digital Creases
Slender Hands
Hypoplasia of Distal Ulna
Slender Long Bones
Elbow Contracture
Small Anterior Cranial Fossa
Joint Contractures (Symptom Improves with Time)
Downslanting Eyebrows
Cerebellar Enlargement
Caused by Mutation in the Proprotein Convertase 1 Gene
Proglucagon Increased
Increased Plasma Progastrin
Insulin Decreased or Normal
Small Intestine Biopsy Shows Villous Atrophy
Malabsorption - Small Intestine
Early-Onset Obesity
Impaired Processing of Proopiomelanocortin
Joint Replacement Often Necessary
Onset of Symptoms in Childhood with Stiff, Painful Joints
Mild Variability in Muscle Fiber Size
Creatine Phosphokinase Mildly Increased
Late Ossifying Epiphyses
Impaired Synthesis of Sulfated Proteoglycans by Fibroblasts
No Cartilage Staining with Toluidine Blue
Metaphyseal Spurring
Marked Shortness - Broad Tubular Bone
Severe Micromelia
Unossified Ischium and Pubis
Slightly Less Ossified than Expected for Gestational Age
Often Stillborn
Occasionally Rib Fractures
Symptoms Precipitated by Stress, Exertion, Fatigue, Alcohol
Onset at Age 2-15 Years
Second Most Common Form of Usher Syndrome Type 1
Nonsyndromic Disorder
Caused by Mutations in the Otoferlin Gene (OTOF)
U- or Bowl-Shaped Audiogram
Absence of Acoustic Reflex
Absent Auditory Brainstem Response
Severe to Profound Sensorineural Deafness
Upper Limb Defects
Cervicothoracic Vertebral Defects - Especially C5-T1
External Ear Defects
Short Stature (Adult Height <152 cm)
Absent Proximal 2/3 of Vagina
Absent or Hypoplastic Uterus
Associated with the Tau H1 Haplotype
Phenotypic Overlap with Frontotemporal Dementia
May Show Good Response to Levodopa
Median Survival: 5-7 Years
Autosomal Dominant with Incomplete Penetrance
Frontal Release Signs
Tau Inclusions Are 'Flame-Shaped' or 'Tuft-Like'
Tau Immunoreactive Inclusions in Neurons and Astrocytes
Limb Dystonia (18%)
Tremor (30%)
Small Dysplastic Nails
Hypoglycosylation of Plasma Glycoproteins
Abnormal Isoelectric Focusing of Transferrin