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38301 to 38400 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Flat, Broad Feet
Shortening of the Metatarsals
Diaphyseal Shortness
Severe Epiphyseal Hypoplasia
Wide Femoral Neck
Protruding Iliac Wings
Small Sacrum
Short Proximal and Middle Phalanges
Brachydactyly E-Like Changes
Very Short Distal Phalanges (2nd-5th)
Absent Styloid Processes
Acetabular Spurs (Infancy)
Biconcave Vertebrae (Fish-Mouth Vertebrae)
Mild Platyspondyly
Death within First Decade
Prevalent in Ashkenazi Jews
Onset of Symptoms at 2-4 Months
Normal First Month
Caused by Mutations in the Aspartoacylase Gene
Aspartoacylase Activity in Cultured Skin Fibroblasts Reduced
Urine Cerebrospinal Fluid and Blood N-Acetyl-L-Aspartic Acid Increased
Spongy Degeneration of Brain (Histology)
Late Decerebrate or Decorticate Posturing
Loss of Very Early Milestones
Initial Hypotonia Followed by Spasticity
Onset 7 to 15 Months of Age
Possibly Degeneration of the Globus Pallidus
Choreoathetosis of the Face, Trunk, Extremities
Short Broad Palate
Activity of Succinic Semialdehyde Dehydrogenase Decreased
Plasma and Cerebrospinal Fluid GABA Increased
Urinary Excretion of Gamma Aminobutyric Acid Increased
Cerebrospinal Fluid and Plasma GHB Increased
Increased Urinary Excretion of 4-Hydroxybutyric Acid (GHB)
Psychosis in Older Patients
Mild Autism
Hyperintensities in the Globus Pallidus (T2-Weighted)
Approximately 30% of Patients Show Normal Early Development
Mild to Severe Development Delay
Restlessness, Agitation, Crying under Stress
Mild Eczema
Urine Sulfate Decreased
Urine Sulfite Increased
Sulfite Oxidase Activity in Fibroblasts Decreased
Teething Delayed
Generalized Dystonia
Mutation in the Filamin B Gene (FLNB 603381)
Range of Motion at Elbows Decreased
Unilateral Unsegmented Bar
Broad Square Nasal Tip
Round, Broad Face
Usually Fatal by Age 5 Years
Mutations in the HEXA Gene
Ballooned Neurons
Macular Pallor with Prominence of Fovea Centralis (Cherry-Red Spot)
Deep Palatal Fovea
Hypoplastic Maxillary Sinus
Pseudoanodontia
Multiple Non-Erupting Secondary Teeth
Affected Infants Die in Neonatal Period
Bilobar Right Lung
Rudimentary Ovaries
Malformed Uterus
Rarely Autosomal Dominant Inheritance
Mutation in the Integrin Beta 3 Gene
Deficiency of Glycoprotein GP-IIb-IIIa Complex
Coomb-Negative Microangiopathic Hemolytic Anemia
Ultra-Large von Willebrand Factor in Plasma
Focal Neurologic Signs
Fluctuating Neurologic Signs
Olecranon Unfused
Mutations in the Thyroid Peroxidase Gene
Tyrosine Iodination Defect
Thyroid Peroxidase Defect
Defective Thyroid Oxidation and Organification of Iodide
Levels of Free Thyroid Hormones Normal or Mildly Decreased
Patients with Hypothyroidism Have Hypoplastic Thyroid Gland
Possibly Hypothyroidism
No Goiter
Normal Sized Thyroid Gland
Euthyroidism
Liveborn Often Die within First Week of Life
Mutation in the LMNA Gene
Caused by Mutation in the Zinc Metalloproteinase STE24 Gene
Normal Scalp Hair
Sparse or Absent Lanugo
Long Nails
Absence of Normal Rete Ridge Pattern
Abnormal Alignment of Collagen Bundles
Dermal Thinning
Prominent Superficial Blood Vessels
Tight, Rigid Skin
Overtubulated Long Bones
Small Pinched Nose
Absent or Sparse Eyebrows
Expressionless Facies
Ribbon-like Ribs
Thin Dysplastic Bipartite Clavicles
Anterioposterior Diameter of Thorax Increased
Possibly Neurologic Dysfunction after Delayed Diagnosis