Sitemap | Symptoma 38301 to 38400 most common queries List represents a sample of symptoms, diseases, and other queries. Updated weekly. 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 Untreated Neutropenia Facilitates Severe Infections
