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33501 to 33600 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
No Progression to Cancer
Double Superior Vena Cava
Pulmonary Hypoplasia Secondary to Diaphragmatic Hernia
Enlarged Ocular Globes
Mutation in the TREX1 Gene
Acrocyanosis of the Feet
Anterior or Posterior Placement of Anus
Anomalous Attachment of Gut
Diaphragmatic Defect Often Unilateral and Left Sided
Atretic Ureter
Uterus and Vagina Duplex
Muscle Pain and Cramps Following Exercise
A Severe Infantile Variant Has Been Rarely Reported
Late Adult-Onset Has Been Reported
Exercise Intolerance Often Evident in Childhood
Mutation in the Muscle Phosphofructokinase Gene
No Increase of Muscle Lactate with Ischemic Exercise Testing
Erythrocyte 2,3-Diphosphoglycerate Decreased
Gout due to Increased Uric Acid
Muscle Glycogen Content Increased
Muscle Fibers May Contain Abnormal Polysaccharide
Jaundice due to Hemolytic Anemia
Gallstones due to Hemolytic Anemia
Affects 1-2 in 400 Individuals of Northern European Descent
Iron-Stainable Hepatic Parenchymal Cell Increased
Patients Do Not Have Clinical Hypothyroidism
Onset of Other Symptoms in Adolescence or Early Adulthood
Onset of Mental Impairment in Early Childhood
Short, Sparse, Fine Hair
Atrophic Seminiferous Tubules
Testicular Biopsy Shows Hypospermatogenesis
MRI Shows Decreased Signal Intensities in the Basal Ganglia
Failure of Secondary Sexual Development
Hypogonadotropic Hypergonadism
Affected Individuals Are Highly Prone to Burn Related Injuries
All Other Sensory Modalities Are Intact
Polyploid Sperm Heads
Multi-Tailed Spermatozoa
Irregularly Shaped Sperm Heads
Large Spermatozoa
Initial Cases Reclassified as Having Schwartz Jampel Syndrome
Large Ossification Centers
Absent Ossification of Capital Femoral Epiphysis
No Coronal Clefts
Joint Stiffness - Neck Shoulder Elbow Hips
Normal Ribs
Lateral Curving of Inferior Scapular Angle
Adult Form Onset Has after 20 Years
Juvenile Form Has Onset between 4 and 19 Years
Late Infantile Form Has Onset between 19 Months and 4 Years
Infantile Form Usually Leads to Death by Age 2 Years
Infantile Form Accounts for 90% of Cases
Infantile Form: Onset within First 6 Months of Life
Mutations in the GALC Gene
Diffuse Demyelinating Neuropathy
'Globoid Multinucleated Cells' in Brain Tissue
Hypertonia in Early Stage
Oligosyndactyly
Life Threatening Metabolic Decompensation
Dihydrolipoyl Dehydrogenase Deficiency
Thiamine-Responsive Form
Intermediate
Most Patients Are Clinically Asymptomatic
Methionine Increased
Fetid Breath due to Increased Dimethylsulfide
Neurologic Involvement Is Rare
Self-Regulated Protein Restriction
Mutation in the Methylmalonyl CoA Epimerase Gene
Normal B12
Propionylcarnitine Increased
Total Homocysteine Normal
Mild Methylmalonic Aciduria
Mutation in the GNPTAB Gene
Valvular Heart Disease - Aortic Valve Stenosis
Mutations in the GUSB Gene
See Also X-Linked and Autosomal Dominant Forms
Mutation in the BIN1 Gene
Centralized Nuclei (Muscle Biopsy)
Possibly Distal Muscle Weakness
Absence of Hypertension
Mean Age at Onset of End-Stage Renal Disease: 13 Years
Mutation in the NPHP1 Gene
Hyposthenuria - Inability to Concentrate Urine Normally
Mutation in the Palmitoyl Protein Thioesterase 1 Gene
Autosomal Dominant Omodysplasia Has Also Been Described
Small Pterygia (Axillary, Popliteal)
Hemangiomas (Face, Glabella)
Short, Thick Fibulae
Short Thick Tibiae
Proximal Club-Shaped Femurs
Anterolateral Radial Head Dislocation
Hypoplastic Everted Lateral Condyle
Radioulnar Diastasis
Knee Flexion and/or Extension Limited
Elbow Flexion and Extension Limited
Thin Vermilion
35% of Cases Involve Ileum only
5-10% of Patients Have a First Degree Relative with Inflammatory Bowel Disease
Aphthous Ulcers - Lips, Gingiva, Buccal Mucosa
Transmural Granulomatous Inflammation with Skip Lesions