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38901 to 39000 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Hypoplastic Ear Lobes
Coarse Face
Prolonged Bleeding after Trauma or Surgery
Thrombopoietin Elevated
Morbidity and Mortality in Affected Males Increased
Trapezoidal Shaped Skull
Occipital Bossing
Widened Suture
Broad, Flat Ribs
Death within first Year of Life
Low Absolute Lymphocyte Count
Lymph Nodes Are Small and Poorly Developed
T Lymphocytes Absent
Natural Killer Cells - Reduced Numbers and Cytotoxicity
Specific Antibody Production Severely Decreased
Unilateral Chest Hypoplasia
Mutation in the Rho Guanine Nucleotide Exchange Factor 6 Gene
Less Severe Phenotype in Females
Urine 2-Methyl-3-Hydroxybutyrate Increased
Activity of 2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase Decreased
Inverted-V-Shaped Mouth
Mild Truncal Obesity
Mutation in the Immunoglobulin Binding Protein 1 Gene
Cup Ear
Caused by Mutation in the Oligophrenin 1 Gene
Long, Tubular Nose
Marked Infraorbital Creases
Upturned Philtrum
Cerebral Volume Decreased, Especially of the Frontal Lobes
Retrocerebellar Cysts
Mild Mental Retardation in Most Female Carriers
Affected Individuals Remain Ambulatory in Old Age
Peripheral Nerve Biopsy Normal
Muscle Biopsy Shows Neurogenic Changes
Lower Limbs Affected before Upper Limbs
Caused by Mutation in the Synapsin 1 Gene
Associated with Mutation in the Neuroligin 3 Gene
No Peripheral Signs of Hypothyroidism
Mutation in the MCT8 Gene
RT3 Decreased
Triiodothyronine Increased
Thyroid-Stimulating Hormone Normal or Mildly Increased
Thyroxine Decreased
Joint Contractures (Small and Large Joints)
Flattened Antihelix
Prominent Antihelices
Pinna Modeling Anomalies
Broad Shallow Pectus Excavatum
Lack of Communication
No Gaze Contact
Inability to Communicate
Dystonic Posturing of the Hands
Neck Drop
Inability to Hold Neck up - Onset at 6 Months
Hypotonia Proximal Severe
Features in Addition to Mental Retardation Are Variable
Abundant Body Hair
Short Thick Distal Phalanges
Small, Deep-Set Eyes
Small Eyelashes
Raised Earlobes
Pyramidal Syndrome of the Lower Limbs
Hypertonia (in Lower Limbs)
Slowly Progressive Spastic Paraplegia
Caused by Constitutive Activation of the AVPR2 Receptor
Normal Neonatal Course
Mutation in the AVPR2 Gene
Antidiuretic Hormone Not Detectable
Euvolemia
Aldosterone Normal
Creatinine Mildly Decreased
Inappropriately Increased Urine Osmolality
Appropriately Increased Serum 1,25-Dihydroxyvitamin D3
Renal Phosphate Wasting
Caused by Mutation in the p21-Activated Kinase 3 Gene
Relatively Long Ears
Some Patients Can Hold Menial Jobs
Some Patients Attend Special School
Most Patients Have Adult Onset of Symptoms
Exercise-Induced Myoglobinuria
Muscle-Specific Phosphorylase Kinase Activity Decreased
Muscle Biopsy Shows Mitochondrial Paracrystalline Inclusions
Frontal Bone Hypoplasia
Night Blindness in Some Female Carriers
Possibly Decreased Visual Acuity in Female Carriers
Severe Early-Onset Retinitis Pigmentosa
Normal Intelligence in Carrier Females
Lung Hypoplasia at Birth
Severe Respiratory Muscle Weakness
Respiratory Distress due to Muscle Weakness - Often Fatal
Muscle Biopsy Shows No Dystrophic Changes
Type 1 Fibers Are at Least 12% Smaller than Type 2 Fibers
Muscle Biopsy Shows Fiber Type Disproportion
Relatively Preserved Limb Strength
Generalized Neonatal Hypotonia
Horizontal Smile
Microdontia (Maxillary Lateral Incisors)
Repeat Is Unstable if > 52 Repeats
Mutation in the FMR1 Gene
Allelic to Carpenter-Waziri Syndrome (without Alpha-Thalassemia)