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27901 to 28000 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Large Birth Size
Bilateral Renal Hamartomas
Mutation in the PEX2 Gene
Episodic Bleeding
Defective Bile Acid Metabolism
Peroxisome Deficiency
Accumulation of Pipecolic Acid
Di- and Trihydroxycholestanoic Acid Accumulation
Very Long Chain Fatty Acid Accumulation
Phytanic Acid Accumulation
Radioulnar Synostosis
Possibly Lethal in Neonatal Period
Urine, Sweat, Saliva and Stool Sodium Markedly Elevated
Usually Neonatal or Infantile Death
Mutation in the RIPK4 Gene
Skin Tags on Genitalia
Skin Tags on Palms
Bilateral Pterygia
Bilateral Pterygium of Wrist
Bilateral Pterygium of Elbow
Bilateral Inguinal Pterygium
Bilateral Axillary Pterygium
Bilateral Popliteal Pterygium
Oligosyndactyly of Toes
Thumb Aplasia
Bony Synostosis
Hypoplasia of Iliac Wing
Filiform Bands between Mandible and Maxilla
Eyelid Colobomata
Medial Canthal Webbing
Absent Eyelashes
Eyebrows Absent
Low-Set Umbilicus
Asymmetric Nipples
Bilateral Cryptorchidism
Clitoris Absent
Hypoplastic Genitalia
Mutation in the Never in Mitosis Gene A-Related Kinase 1 Gene
Malformed Larynx
Hallucal and Postaxial Polysyndactyly
Markedly Stunted and Disorganized Endochondral Ossification
Glomerular and Renal Tubular Cysts
Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency
Defects in Executive Function
Social Sensitivity
Attention Deficit Disorder - in Those Who Stop Treatment
Self Mutilation if Left Untreated
Aggression (if Untreated)
Autistic Features if Left Untreated
Hyperactivity (if Untreated)
Psychosis if Left Untreated
Mental Processing Speed Decreased
Nystagmus is Often the Presenting Sign
Progressive Joint Contractures
Slow Pupillary Reflexes
Pale Ocular Fundus
Horizontal or Rotary Nystagmus
N-Acetylaspartate Decreased
Brain MRI Shows Arrest in Myelination
No Speech Acquisition
Most Patients Require Ambulatory Aids about 10 Years after Onset
Adult Onset - 40s
Caused by Mutation in the Transglutaminase 6 Gene
Saccadic Slowing
Cerebellar Ataxia - Upper and Lower Limbs Affected
Short, Bulbous Nose
Thick Earlobes
Deep Prominent Philtrum
Body Habitus Becomes Apparent in Childhood
Mutation in the PLIN1 Gene
Cervical Adipose Tissue Normal
Normal Facial Adipose Tissue
Adipose Fibrosis Increased
Biopsy of Adipose Tissue Shows Reduced Adipocyte Size
Lipoatrophy of Trunk
Cushingoid Appearance
Ovarian Hyperandrogenemia
Mutation in the Homolog of the Rat Nexilin Gene
Left Ventricular Anterior Wall Hypertrophy
Asymmetric Interventricular Septal Hypertrophy
Mutation in the Calreticulin 3 Gene
Mutation in the PLN Gene
Death Usually at Age <2 Years
Onset in First 8 Weeks of Life
Granular Deposits in the Sarcomeres
Z-Band Streaming
Eosinophilic Inclusions
Endomysial Fibrosis
EMG Shows Increased Insertion Activity and Fibrillation
Electroretinography Responses Nondetectable
Cystoid Macular Edema
Retinal Blood Vessels Attenuated
Central Islands of Vision Only
Peripheral Vision Reduced
Night Vision Impaired
Visual Acuity Ranges from 20/20 to Light Perception Only
Cleft Lip and-or Palate
Hyperextensibility of the Interphalangeal Joints
Mild Bone Deformities
Repeated Bone Fractures