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40501 to 40600 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Short Iliac Wings
Anterior Tongue-Like Deformity
Electroretinogram Decreased
Onset at Age 4 Years
'Curvilinear' Profiles Ultrastructurally
Fibroblasts Demonstrate Rapid Growth with Increased DNA Synthesis
Fibroblasts Show Increased Sensitivity to Apoptosis
Fibroblasts Attach Poorly
Fibroblasts Small and Rounded with Prominent Nucleoli
Apoptotic Neurons
'Ballooned' Neurons with Autofluorescent Fine Granular Material
Slowing with Polyspike-and-Slow-Waves
Psychomotor Deterioration
Onset in Early Infancy between 2 Weeks and 3 Months
Inability to Reach
Startle Myoclonus
Tonic Spasms
Severe Metabolic Acidosis
Increased Serum Direct Bilirubin
Onset in Middle Age - 44 to 60 Years
Mutation in the Amyloid Precursor Protein Gene
Hyaline Thickening of Cerebral Arteries
Recurrent Strokes
Recurrent Cerebral and Cerebellar Hemorrhage
Progressive Dementia with Onset of Disease
Progressive Permanent Flexion Limitation of Toes
Progressive Permanent Flexion Limitation of Fingers
Hyporeflexia in Affected Muscles
Hip Girdle Muscle Weakness
Normal Cochlear Microphonics
Normal Otoacoustic Emissions
Normal Outer Hair Cell Functions
Abnormal Amplitude Modulation Detection
Abnormal Gap Detection
Abnormal Auditory Temporal Processes
Abnormal or Absent Auditory Nerve and Brainstem Responses
Hearing Loss - Neural Type
Average Age at Onset 18.6 Years
No Auditory Brainstem Response
Intestinal Aganglionosis
Myenteric and Submucosal Ganglia in the Bowel Decreased
Mutation in the SRY Box 10 Gene
White Eyebrows
Hypopigmented Skin Patch
Distal Muscle Weakness due to Peripheral Neuropathy
Absence of Exophthalmos
Usually Requires Total Thyroidectomy
Phenotypic Variation
Age at Onset Ranges from Neonatal to Adulthood
Absence of Pretibial Myxedema
Absence of Dermopathy
Free Thyroid Hormones Increased
Absence of Anti-Thyroid Antibodies
Absence of Immune Complexes and Lymphocytes in Thyroid Tissue
Distinct Disorder from Parkinson Disease
Onset 30-40 Years of Age
Symmetric Lesions of the Basal Ganglia
No Response to L-Dopa Treatment
No Tremor
Slowly Progressive Dysarthria
Hypoplastic Metatarsals
Prominent Trochanter
Narrow Short Femoral Neck
Irregular Sclerotic Acetabula
Rectangular Lumbar Spinal Canal
Internal Auditory Canal Hypoplasia
Short Distal Phalanges - Toes 2-4
Bone Erosions (5th Finger)
Pointed Phalanx (5th Finger)
Short Distal Phalanx - 5th Finger
Bicuspid Pulmonary Valve
Translucent Skin
Velvety Texture
Plasma Renin Normal
Plasma Cortisol Low
Plasma Adrenocorticotropic Hormone Elevated
Caused by Mutations in the Myotilin Gene
Phagocytic Vacuoles with Degraded Membranous Material
Increased Staining for Myotilin Dystrophin Desmin
Congophilic Staining
EMG Shows Myopathic and Neurogenic Changes
Muscle Stiffness or Aching
Proximal Muscle Involvement May Occur
Progressive Distal Muscle Weakness
Subscalp Nodule (1.5-4 cm)
Atretic Occipital Cephalocele
Head Circumference Large for Gestational Age
Bony Defect with Cephalocele
Normal Neurologic Development in Most Cases
Short Trunk - Short Stature < 3rd - 50th Percentile
Flattened Capital Femoral Epiphyses
Hip Abduction Decreased
Caused by Mutation in the Melanophilin Gene
Mutation in the MYO5A Gene
Large Clumps of Pigment Irregularly Distributed Along Hair Shaft
Silver-Gray Eyebrows
Silver-Gray Eyelashes
No Immunologic Abnormalities
Type 1 Has Most Severe Manifestations by Age 4-5 Years
Type 1: Onset at 8-15 Months of Age after Normal Development