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35601 to 35700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Slow Functional Deterioration despite Severe MRI Findings
Caused by Mutation in the MLC1 Gene (MLC1)
Vacuolizing Myelinopathy
Large Subcortical Cysts in Frontal and Temporal Lobes
Distinct Disorder from Marinesco Sjogren Syndrome
Prevalent in Bulgarian Gypsies
Neuropathy Becomes Apparent in Childhood
Bimaxillary Dentoalveolar Protrusion
Thickening of Perioral Tissues
Malar Hyperplasia
Axonal Degeneration in Older Patients
Nerve Biopsy Shows Hypomyelination
Upper Limb Motor Neuropathy Occurs Later
Motor Neuropathy Beginning in Lower Limbs
Occurs in the Absence of Trauma
A Subset of Patients Have Hearing Loss
Facial Muscle Weakness of Muscles Innervated by CN VII
Mutation in the KIF5A Gene
Upper Limb Sensory Loss May Occur Later
Upper Limb Weakness May Occur Later
Mutations in the SLC4A4 Gene
Red Cell Osmotic Resistance Increased
Normal Distal Tubule Acid Excretion
Bicarbonate Wasting Renal Tubular Acidosis
Onset between Age 30-50 Years
Mutations in the Ceruloplasmin Gene
Ceruloplasmin Decreased or Absent
Two Loci Described: EEC1 and EEC3
Heterogeneous Disorder
Caused by Mutation in the Tumor Protein P63 Gene
Sparse to Absent Axillary and Pubic Hair
Fair Skin
Absent Stensen Duct
Lacrimal Duct Abnormalities
Laterally Displaced Hair Whorl
Vertically Inserted Eyelashes
Long Flat Philtrum
Overriding Scrotum
Death Usually Occurs by 12 Months of Life
Onset within First 3 Months of Life
Ventilator Dependence with Inability to Wean
Intrauterine Growth Retardation (Less Than 10th Percentile)
Membranous Diaphragm
Thin Diaphragm
Eventration of the Right or Both Hemidiaphragms
Excessive Sweating due to Autonomic Involvement
Pain Perception Decreased
Small Myelinated Fibers
Axonal Degeneration (Nerve Biopsy)
Slow Motor Nerve Conduction Velocity
Upper Limb Weakness and Atrophy Occurs Later
Childhood Onset Has Been Reported
Adult Onset Reported
Onset Usually in Early Adolescence
Learning Disability (Early in Life)
Knee and Ankle Clonus
Loss of Ambulation within 10 Years of Onset
Stiffness While Walking
Onset of Insulin Resistance Possibly in Childhood
Onset of Major Clinical Features in Young Adulthood
Mutation in the PPARG Gene
Prominent Musculature
Facial and Neck Adipose Tissue Normal or Decreased
Normal or Increased Abdominal Adipose Tissue
Some Subcutaneous Adipose Tissue May Remain on Upper Arms
Loss of Subcutaneous Adipose Tissue from Gluteal Region
Normal Adipose Tissue around Neck
Normal or Decreased Facial Adipose Tissue
Increased Frequency in Finland
Onset at 6-9 Months
Normal in Neonatal Period
Mutations in the SLC17A5 Gene
Height 2 SD below Expected Height
Mutation in the SCO2 Gene
Muscle Biopsy Shows Decreased Activity of Cytochrome C Oxidase
Limited Extraocular Movement
No Hematuria
Basement Membrane Altered
Renal Tubular Cell Atrophy
Corticomedullary Cysts
Median Age at Onset of Renal Failure: 19 Years
Onset of Acne in Adolescence - Persists Into Adulthood
Onset of Arthritis in Early Childhood
Sterile Abscesses at Site of Parenteral Injection
Severe Cystic Acne
Normocytic Pancytopenia Following Sulfa Use
Onset in Third or Fourth Decades
Thrombopoietin Increased
Severe Thrombocytopenia (Birth)
Normal Radii
Caused by Mutation in the Set-Binding Factor-2 Gene
Glaucoma May Precede Development of Neuropathy
Early-Onset Open-Angle Glaucoma
Abnormal Myelin-Folding: Globular Masses of Irregular Myelin
Loss of Myelinated Fibers
Onion Bulb Formations (Nerve Biopsy)
Motor Nerve Conduction Velocity Decreased (15-30 m/s)
CSF Protein Content Increased or at Upper Limit of Normal
Severe Distal Sensory Impairment
Life Expectancy Reduced