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21501 to 21600 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Intellectual Disability and/or Hydrocephalus (50%)
Portal Fibrosis
Hepatic Cytolysis
Hepatic Involvement
Microcystic Tubular Dilatations
Mutation in the TTLL5 Gene
Initial Disturbance of Central Vision
Cone First Retinal Dystrophy
Mutation in the DOCK7 Gene
Large Nasal Root
Occipital Lobe Atrophy
Mild Pontine Hypoplasia
Abnormally Marked Pontobulbar Sulcus
Regression of Early Motor Skills
Reported in Individuals of Jewish Moroccan Ancestry
Mutation in the VPS53 Gene
Lack of Developmental Milestones
Low ADH
Prolactin Decreased or Not Detectable
Lack of Chilblain Lesions
Alpha Interferon Activity Increased
Hyperinflammatory State
Lupus-Like Syndrome
T2-Signal Abnormalities in the Deep White Matter
Mutation in Zinc Finger MYND-Containing Protein 15 Gene
Thickening of Tubular Membranes
Follicle Stimulating Hormone Level Elevated
Oligozoospermia
Normal Testosterone Level
May be Exacerbated by Febrile Illness
Mutation in the LYRM7 Gene
Isolated Mitochondrial Complex III Deficiency (Muscle Biopsy)
White Matter Vacuolization
Demyelinization
Neurologic Decompensation
Acute Encephalopathy
Onset between 2 and 4 Years of Age
Mutation in the Cysteine Rich Glutaredoxin 2 Gene
Moderate to Severe Bilateral Sensorineural Hearing Loss
Mutation in the NECAP1 Gene
Brain Atrophy (MRI)
Lack of Head Control
Somatic Mutations Occur in Adrenal Tumor Tissue
Bilateral Adrenal Adenomas
All Reported Mutations Have Occurred De Novo
Absent or Poor Expressive Speech
Skin Syndactyly 2-3
Very Poor Expressive Speech
Secondary Decreases in Complex I and IV Activity
Mild Sensorineural Hearing Impairment
Risk of Sudden Death due to Cardiac Arrhythmias
Caused by Mutation in the Desmoplakin Gene
Excessive Trabeculation in Right Ventricle
Apical Aneurysm - Right Ventricle
Fibrosis of Left Ventricle
Biventricularly Decreased Contractility
Biventricular Enlargement
Brittle Nails
Focal Keratoderma of Soles
Striated Keratoderma of Palms
Variable Tooth Agenesis
Mutation in the KIAA1033 Gene
Poor Fine Motor Skills
Poor Adaptive Skills
Neurologic Features Are Variable and Not Progressive
Caused by Mutation in the Phosphoglucomutase-3 Gene
Transferrin Glycosylation Normal
Formation of Complex N Glycans Decreased
UDP-GlcNAc Decreased
Hyposialylation of O-Linked Serum Glycans
Stimulation Increases Cytokines IL4, IL5, IL13, IL17
Abnormal Ratios of CD4+ Helper T Cells
CD27+ B Cells Decreased
Increased Susceptibility to Infections (Bacterial, Viral, Fungal)
Oromotor Deficits
Defective Myelination
Risk of Sudden Death
Early-Onset Myocardial Infarction
Early-Onset Coronary Artery Stenosis
Low Density Lipoprotein Borderline Elevated
Body Mass Index Elevated
Juvenile-Onset Central Obesity
Mutation in the Adenosine Monophosphate Deaminase 2 Gene
Poor Fixation
Progressive Microcephaly (up to 9 SD)
Defective Myelination of the Deep White Matter
Fluid-Filled Posterior Cranial Fossa
Absent Development
Mutation in the DNA2 Gene
Paraplegia Secondary to Spinal Cord Compression due to Severe Kyphosis
Founder Effect in Turkish Families
Flattened Nasal Root
Mutation in the KRT13 Gene
White, Spongy Plaques on the Pharyngeal Mucosa
Orderly Appearance of Basal Cell Layer
Narrow Intercellular Spaces between Vacuolated Cells
Perinuclear Condensation
Cell-within-a-Cell Appearance of Spinous Layer
Basket-Weave Appearance of Spinous Layer
Intracellular Edema of Spinous Layer