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38801 to 38900 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Hypocalciuria or Normocalciuria
Hyperchloridura
Nephrocalcinosis Is Absent
Renal Potassium Wasting
Hyperactive Renin-Angiotensin System
Onset of Dystonia at 12 Years
Mutation in the Beta Actin Gene
Antecollis
Limited Vision
Small for Age
Subnormal Cognition
Generalized Dopa-Unresponsive Dystonia
Recurrent Hypoglycemia
Plasma ACTH Elevated
Hammer Toe - 2-4 Toes
Canine Radiculomegaly
Laterally Curved Eyebrows
Autosomal Recessive Form
Later Onset May Occur
Onset Usually within First Weeks of Life
Large, Pale Cells in Adrenal Glands
Allelic Disorder to Orofaciodigital Syndrome Type 1
See Also Simpson Golabi Behmel Syndrome Type 1 - SGBS1
Death Often in Infancy
Trilobate Left Lung
Short Distally Tapering Fingers
Axillary Webbing
Decreased Joint Extension (Shoulder, Elbow, Knee, Ankles)
Brisk Deep Tendon Reflexes
Metaphyseal Cupping - Metacarpals and Phalanges
Large Broad Hands
Peg-Like Central Prominence of Distal Tibial Metaphyses
Cone-Shaped Capital Femoral Epiphyses
Short Hypoplastic Femoral Necks
Inferior Rib Flaring
Widened Subarachnoid Spaces
Female Carriers May Be Mildly Affected
Long Thin Toes
Long Straight Nose
Deep, Sunken Eyes
Square Prognathic Jaw
Loss of Ability to Walk within First Decade
Late Ambulation
Females: Milder Phenotype, Later Onset of Cardiac Symptoms
Sudden Death of Affected Females in Fifth Decade
Mutation in the Lysosome-Associated Membrane Protein 2 Gene
Cardiomyocytes with Irregular Nuclei
Hypertrophic Cardiomyocytes (Biopsy)
Decreased Contractility
LAMP2 Protein Severely Decreased or Absent
Vacuoles Are Autophagocytic
Sarcoplasmic PAS-Positive Vacuoles (Muscle Biopsy)
Noncompaction of the Heart
Small 3rd and 4th Metacarpals
Broad Femoral Heads and Necks
Small Irregular Proximal Femoral Epiphyses
Absent Mitogenic Response to Staphylococcus Aureus Cowan Antigen
T-Cell Count Normal
Normal Lymphocyte Response to Pokeweed Mitogen and Conconavalin a
Specific Antibody Titers Low
IgA, IgE, IgG and IgM Normal
Long Prominent Eyelashes
Infancy-Onset Short Trunk and Short Stature
Lower Limb Hypotrophy
Memory, Attention, Language Limited
Mean Age of Onset: 20.6 Years
Diffuse or Nodular Thyroid Goiter
Thyroid Volume 22-66 ml - Adults
Muffled Voice
Progressive Pes Cavus
Large Eyebrows
'Pugilistic Facies'
Caused by Mutation in the WAS Gene
No Eczema
Mean Platelet Volume Normal
CD8+ T Cells Increased
Susceptibility to Infections Start in the First Year of Life
Hypoxemia and Cor Pulmonale
Rudimentary Adenoids
Immunoglobulins Decreased or Undetectable
Plasma Cells Absent in All Organs
B Lymphocytes in All Organs Absent
Increased Incidence of Rectosigmoid Cancer
Spasticity - Hyperreflexia
Basal Ganglia Dysfunction
Age at Onset of Self-Injurious Behavior: 2 Years
Partial Deficiency of Hypoxanthine Phosphoribosyltransferase
Associated Anomalies in 70% of Patients
Onset of Skin Abnormalities at Birth, in Infancy, or Childhood
A Nonspecific Marker of Somatic Mosaicism
Chromosomal Mosaicism
Creatine Increased
Urine Creatine Increased
Impaired Creatine Uptake in Fibroblasts
Unfolded Superior Helices
Behavioral Changes Consistent with an Autistic Disorder
Severe Speech and Language Delay
Large, Bulbous Nose
Small Downslanting Palpebral Fissures
Hypoplastic Ear Lobes