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33001 to 33100 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Anti-dsDNA Antibody
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