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37201 to 37300 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Diminished Visual Activity
Associated with Increased Paternal Age
Anomalies of Cervical Vertebrae
Lateral Palatal Swellings
Parrot-Like Nose
Exposure Conjunctivitis and/or Keratitis
Occasional Mental Retardation
Early Death in Patients with Cloverleaf Skull
Increased Paternal Age
Preauricular Skin Furrow
Prominent Umbilical Stump
Normal Intrauterine Growth
Rugose Labia Majora
Coagulation Defect due to Decreased Liver Function
Complex III Activity in Liver Tissue Decreased
Fibrosis On Biopsy
Poor Postnatal Growth
Renal Tubulopathy
Itch Pain and Often Body Malodor
Acral Hemorrhagic Variant
Age of Onset 6-20 Years
Distal V-Shaped Notching
Longitudinal White or Red Subungual Streaks
Fingernails Involved More Often than Toenails
Acrokeratosis Verruciformis-Like Lesions on Dorsum of Hands
Hemorrhagic Palmar and Plantar Macules
Keratotic Plaques of Palms
Odoriferous Hypertrophic Plaques
Lesions of Oral Mucosa
Recurrent Parotid Gland Swelling
See Also Optic Atrophy Type 1 - an Allelic Disorder without Deafness
Possibly Ophthalmoplegia in Middle-Aged Patients
Mutation in the OPA1 Gene
Absent or Decreased Auditory Brainstem Responses
Asymptomatic Heterozygotes Susceptible to Lead Toxicity
Urine Delta-Aminolevulinic Acid and Porphyrins Increased
Erythrocyte Delta Aminolevulinate Dehydratase Deficiency
Early-Onset Strokes in 43% of Patients
Complete Penetrance at 30-40 Years of Age
Death Usually in Sixth Decade of Life
Adult Onset - Third Decade
Affected Arteries Show Loss of Smooth Muscle Cells
Long Perforating Arteries of the Brain Are Affected
Vasculopathy of the Small Arteries Penetrating the White Matter
Microbleeds Occur after Age 40 Years
Lesions in the Internal Capsule after Age 40 Years
Lacunar Infarcts Develop after Age 40 Years
Subcortical Lacunar Lesions Seen Early in Disease
Progressive Subcortical Dementia
Recurrent Subcortical Infarcts
Phenotypic Heterogeneity
Degeneration of the Dentatorubral and Pallidoluysian Systems
Primary Teeth More Severely Affected than Secondary Teeth
Caused by Mutation in the Dentin Sialophosphoprotein Gene
Severe Attrition
Absent Pulp Chambers
Root Canals Are Small or Obliterated
Narrow Roots
Bulbous Shaped Crown
Brown-Blue or Opalescent Brown Teeth
Type 3: Brandywine Isolate Opalescent Dentin
Type 1 Associated with Osteogenesis Imperfecta (125490)
Shields Classification
Pulp Exposures
Primary and Secondary Teeth Affected
Reticulate Hyperpigmentation Onset Birth - 2 Years
Non-Cicatricial Alopecia Affecting Scalp, Eyebrows, Axillae
Nonscarring Blisters
Hypohidrosis or Hyperhidrosis
Reticulate Hyperpigmentation (Primarily Trunk)
Reticulate Pigmentation of Oral Mucosa
Reticulate Pigmentation (Bulbar Conjunctiva)
In Response to DDAVP Administration, Urine cAMP Increased
Normal Extrarenal Responses to dDAVP Administration
Urine Osmolality Inappropriately Low
Serum Osmolality Increased
High Risk of Recurrence after Surgery
Earlier Onset is Associated with More Aggressive Disease Course
Onset in Fifth or Sixth Decade
Contractures of the Fingers - Especially Fifth Finger
Shortening of the Fascial Structures of the Palm and Fingers
Thickening of Fascial Structures of Palm and Fingers
New Skin Lesions Stop Appearing before Adolescence
Median Survival is > 50 Years
Median Age at Diagnosis: 28 Years
Reticular Hyperpigmentation
Allelic Disorder to Parkinson Disease Type 1
Phenotypic Overlap with Parkinson Disease
Onset in 6th or 7th Decade
Mutation in the Alpha Synuclein Gene
Sensitivity to Neuroleptic Medication
High Incidence among Ashkenazi Jews
Occasional Adult Onset
Onset in Mid to Late Childhood
Caused by Mutations in the Torsion Dystonia 1 Gene
Isolated Focal Dystonia May Occur
Focal Dystonia (Adult Onset)
Begins in Limbs - Later Generalized
Onset between 13 to 37 Years
Symptoms Precipitated by Sudden Movements