33001 to 33100 most common queries

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

• Abnormal Gait due to Muscle Weakness
• Paediatric Failure to Thrive
• Moderate Psychomotor Retardation
• Weakness of Ankle Plantar Flexion
• Weakness of Triceps Muscle
• Brachycephalic
• Mild Psychomotor Retardation
• Skin Tag of Chest
• Blistered Skin
• Vertical Maxillary Excess Was Noted
• Facial Myotonia Was Seen
• Shortened Ulna
• Laxity of Elbow
• Recurrent Bronchopulmonary Infections
• Fine Motor Skills Delayed
• Generalized Skin Blisters
• Unable to Stand on Toes
• Severe Speech Impairment
• Dilated Pulmonary Arteries
• Bilateral Pes Planus
• Bilateral Pes Cavus
• Thin Lower Lip Vermilion
• Full Upper Lip
• Full Lower Lip
• Papule on Lip
• Palmar Xanthoma
• Hip Abduction
• Hair Absent at Birth
• Tolerance to Exercise Decreased after Cardiovascular Surgery
• Rhytide of Forehead
• Chronic Hypercapnia
• Mutation in the HSD17B10 Gene
• Automutilation
• Non-Specific Changes on ERG in Carrier Females
• Normal to Near Normal Visual Acuity in Carrier Females
• Moderate Central Loss of Visual Acuity in Males
• Peripheral Neuropathy Occurs in Adulthood
• Onset of Hearing Loss prior to or during Adolescence
• Abnormal Auditory Brainstem Responses
• Otoacoustic Emission Amplitude Decreased
• Loss of Outer Hair Cell Function
• Cortical Punctate or Pulverulent Opacities
• Overproduction of Uric Acid and Purines
• Mutation in the PRPS1 Gene
• Activity of the PRPP Synthetase 1 Enzyme Increased
• Secondary Renal Insufficiency
• Neurodevelopmental Impairment
• Mutation in the UPF3-B Yeast Homolog Gene
• Long Hands
• Poor Musculature
• See Also Dyggve-Melchior-Clausen Disease
• Pronounced Lumbar Lordosis
• Marked Pneumatization of Paranasal Sinuses
• Calvarial Thickening
• Restricted Joint Mobility (Shoulders, Elbows, Hips)
• Mutation in the MED12 Gene
• Mutation in the Cartilage Associated Protein Gene
• Skewed X-Inactivation in Carriers
• Central Balding
• Clinodactyly of Fifth Digit
• Overhanging Columella
• Post-Adolescent Long Narrow Face
• Low-Normal Platelet Count in Carrier Females
• Mild Reticulocytosis in Carrier Females
• Normal Platelet Aggregation
• Fetal Hemoglobin Increased
• HbA2 Elevated
• Alpha : Beta Globin Ratio in Reticulocytes Increased
• Increased Hair Whorls
• Inability to Supinate Forearm
• Arthralgia - Arthritis
• Flat Femoral Condyles
• Arthralgia - Arthritis - Hip
• Relatively Short Stature
• Mutation in the SPTBN2 Gene
• Caused by Mutation in the Suppression of Tumorigenicity 14 Gene
• Central Pili Mono-Bifurcati
• Dysplastic Hair
• Persistence of Corneodesmosomes in Stratum Corneum
• Marked Acanthosis
• Minimal Hair Growth
• Lipid-Linked Oligosaccharides Decreased
• Disialo- and Asialotransferrin Increased
• Absent Metacarpal Ossification Center
• Long Fingers with Squared Tips
• Mild Metaphyseal Irregularities
• Small Joint Laxity (Especially Hands and Elbows)
• Pulmonary Artery Atresia
• Small Ventricle
• Dilation of Ventricle
• Dilation of Atrium
• Pulmonary Agenesis - Usually Bilateral
• Pulmonary Hypoplasia - Usually Bilateral
• Only Upward Growing Eyebrows
• Hypoplastic Bicornate Uterus
• Number of Skin Folds Increased
• Constitutional Karyotype Normal
• Platelet Size Normal
• Thrombocytopenia at Birth
• Later Onset Has Been Reported - Third or Fourth Decade