×
This website uses cookies to ensure you get the best experience on our website.
Privacy
Okay
Any Age
years old
years
Any Age
Newborn
Toddler
Child
Teenager
Adult
Senior
Any Sex
29501 to 29600 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Hypoplasia of Iliac Wings
Poor Mineralization of Skull
11 Rib Pairs in Some Male Patients
Plasma and Secretory IgA Decreased
Mild Cerebellar Atrophy
Mutation in the UBE2A Gene
Broad First Toe
Myxedematous Appearance
White Matter Hypodensities
Lack of Speech or Poor Speech
Normal Adrenal Function
Fine Hair
Protruding Upper Lip
Thick Eyelids
Hypotonia Progressing to Hypertonia
Facial Dysmorphic Features Are Variable
Onset of Neurologic Events at Age 4-35 Years
Flared Nares
Early-Onset Cataracts
Testicular Volume Decreased
Stroke-Like Symptoms
Acute Neurologic Deficits due to Cerebrovascular Disease
Normal-Appearing Male External Genitalia in 46,XX Individuals
Impaired GlcNAc-PI Synthesis
Mutation in the AIFM1 Gene
Serum and CSF Pyruvate Increased
Increased Fatty and Connective Tissue in Skeletal Muscle
Ragged Red Fibers
Mitochondrial DNA Depletion Seen on Skeletal Muscle Biopsy
Sensory and Motor Axonal Polyneuropathy
Brain MRI Shows Signal Abnormalities in the Basal Ganglia
Psychomotor Regression - Onset within First Year of Life
See Also Autosomal Form and Another X-Linked Form
Mutation in the MAMLD1 Gene
Optic Disc Pallor
Optic Nerve Hypoplasia
Progressive Microcephaly (from 3-5 to 10 SD)
Simplified Gyration in the Frontal Cortex
Proportionate Pontocerebellar Hypoplasia
Most Never Acquire Independent Ambulation
Males More Frequently Affected than Females
Full Mutations with Expanded Trinucleotide Repeats >200 Result in Fragile X Syndrome
Most Patients Have a Family History of Fragile X Syndrome
55-200 Expanded Trinucleotide Repeats in the FMR1 Gene
Onset in Fifties or Sixties
Trinucleotide Repeat Expansion in the FMR1 Gene
Intracellular FMR Protein Decreased
Intracellular FMRP mRNA Increased
Decreased Distal Vibratory Sensation
FMR1 mRNA-Positive Inclusions in Neurons and Astrocytes
Increased T2 Signal Intensities in Middle Cerebellar Peduncles
MRI Shows Generalized Atrophy
Memory Defects
Illegible Handwriting
Fine Motor Skills Impaired
Impaired Tandem Gait
Possibly Neuropsychologic Impairment in Female Carriers
Platelet Count Low Normal to Decreased
IgA Decreased to Normal
CD3- CD15+ CD16+ Natural Killer Cells Decreased
Adrenal Crisis in Neonatal Period
Bone Density Decreased
Bowing of Upper Limb
Absent or Hypoplastic Thumbs
Mitral Valve Thickened
Mega-Cisterna Magna
Obstruction of Pulmonary Outflow Tract
Caused by Mutation in the Filamin B Gene
Usually Occurs in Young Adults
Male to Female Ratio 3 : 1
Wedge-Shaped Necrosis from Epidermis through Dermis
Avascular Patches on Conjunctiva and other Eye Regions
Central Nervous System Infarctions
Smooth, Round Collagen Fibrils
Collagen Fibrils Dispersed in Reticular Dermis
Thin Collagen Bundles
Fine Collagen Fibers, Predominant in Reticular to Papillary Dermis
Recurrent Subcutaneous Infections with Fistula Formation
Fine to Acrogeria-Like Palmar Creases
Hyperalgesia to Pressure
Fragile Skin with Atrophic Scarring
Progressive Talipes Valgus and Planus
Talipes Equinovarus in Infancy
Hypermobility of Small Joints
Slender and/or Cylindrical Fingers
Bilateral Thumb Adduction in Infancy
Hypermobility of Shoulders
Tendon Abnormalities
Mild Osteopenia in Childhood
Small Mouth in Infancy
Short with Hypoplastic Columella
Anterior Segment Anomalies
Variable Eye Anomalies
Low-Set and Rotated Ears
Facial Asymmetry from Adolescence
Protruding Jaw from Adolescence
Microretrognathia in Infancy
Large Fontanel with Delayed Closure
Duodenal Obstruction due to Malrotation
Diverticular Perforation