44001 to 44100 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• No Ocular Symptoms
• Number of Desmosomes Decreased
• Muscle Mass Decreased - Especially in Lower Limbs
• Adenylosuccinase Deficiency
• Lysyl Oxidase Activity Normal
• Two Patients Have Been Reported as of August 2010
• Multiperforated Patent Foramen Ovale
• Onychodysplasia May Be Present
• Abnormal Visual Evoked Potentials
• Skin Atrophy Over Affected Bones
• Aplasia of the 5th Metacarpal
• Thick Cornified Layer
• Marked Macular Degeneration
• Pseudomonas in the Sputum
• Mean Age at Resolution of Symptoms Is 10 Years
• Paroxysmal Activity - Sharp-Waves Temporal Right
• Mutation in the ASS Gene
• Macular Retinal Folds
• S-Ado/SAICAr Ratio Decreased
• Acantholysis throughout Epidermis
• Hypoplastic or Absent Toenails
• Mutation in the CD79B Gene
• Small Short Nose
• Hypohidrosis May Be Present
• Partial Complete Absence of 5th Phalanges
• Eventual Loss of Peripheral Vision and Night Blindness
• Caused by Mutation in the GATA-Binding Protein-4 Gene
• Squamous Pityriasiform Appearance of Scalp
• Mean Age at Onset 5 Years
• Myoclonic Seizures
• Coma Alpha Patterns
• Hunched Anteverted Shoulders
• Globular Distal Phalanges
• Increased Succinylaminoimidazole Carboxamide Ribotide (SAlCAr)
• Hepatic Argininosuccinate Synthetase Deficiency
• Trypsin Decreased
• Macular Hemangioma
• Number and Function of T Cells Normal
• Prominent Ear Lobules
• Variable Psychomotor Retardation
• Normal Ulnae
• Photophobia and Epiphora in Day Light
• Fine, Greyish-White Scales
• Median Age at Onset of Proteinuria: 18 Years (Range: 10-21)
• Cardiomyopathy (CVS+)
• Cardiac Valve Insufficiency
• Flat, Irregular Femoral Epiphyses
• Exposure to Contaminated Water
• Urine and Cerebrospinal Fluid Succinyladenosine Increased
• Paroxysmal Activity - Spike-and-Slow-Wave Frontal
• Syndactyly of 2-3, 3-4 and 4-5 Fingers
• Citrulline Increased (1-5 mM)
• Absent Bone in Areas of Aplasia Cutis Congenita
• Inability to Mount Antibody Response to Antigen
• Mental Retardation (33%)
• Allelic Disorder to the Rosselli–Gulienetti Syndrome
• Generalized Ichthyosis Including Flexures
• Distinct from Premature Centromere Division
• Initial Loss of Central Visual Acuity and Color Vision
• Caused by Mutation in the Inverted Formin 2 Gene
• Atrioventricular Septal Defect
• Strabismus (CVS+)
• Paroxysmal Activity - Spike-and-Slow-Wave Temporal
• Aplasia or Hypoplasia of the Nails
• Platyspondyly with Anterior Wedging
• Friendly, Sociable Personality
• Unravelling of Superior Helices
• Recurrent Upper Respiratory Infections
• Short, Brittle Hair
• Block at the Pro-B to Pre-B Stage of Differentiation
• Hypertensive Gastropathy
• Mild Alopecia
• Poor Language and Speech Development
• Possible Increase of Aneuploidy in Offspring
• Gastrointestinal Dysmotility
• Phalangeal Duplication
• Distal Upper and Lower Limbs Amyotrophy
• Pulmonary Valve Thickening or Stenosis
• Squared-Off Superior Helices
• Membranous Vitreous Phenotype
• Paroxysmal Activity - Spike-and-Slow-Wave Occipital
• Joint Hyperlaxity (Infancy)
• Periodontal Disease
• Association of Cardiac Events with Exercise
• Progressive Hypotrichosis
• Fertility Reduced
• See Also Pseudohypoparathyroidism Type 1b and 1c
• High Signal Intensities in Periventricular White Matter
• Pre B Cells Decreased or Absent
• Thick Orthohyperkeratosis
• Preaxial Brachydactyly
• Pervasive Developmental Disorder (CVS+)
• Occasional Cataracts
• Focal Alopecia
• Caused by Mutation in the Desmoglein 4 Gene (DSG4)
• Sural Nerve Biopsy Shows Axonal Loss
• Paroxysmal Activity - Spikes Central Right
• Affected Males Are All Result of New Mutation
• Cold Environment
• Onset Possibly in Early Infancy, Adolescence, or Adulthood