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36101 to 36200 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Reabsorption of Capital Femoral Epiphyses
Reduced Pancreatic Beta Cells
Insulin-Dependent Diabetes Mellitus (Onset in Infancy)
Hypoplastic Nail
Syndactyly (Fingers 3 4)
Thumb Clinodactyly
Stiff Prominent Pinnae
Hypopigmented Ocular Fundus
Hypopigmented Scalp Hair
Coarse Dry Scalp Hair
Bulbous Toes
Small Broad Hands
Pouting Lower Lip
Short Stubby Nose
Long Deep Philtrum
Sloping Shoulders
Prothrombin Time Prolonged - Partial Thromboplastin Time Prolonged
Disorganized Growth Plate Cartilage
Irregular, Flattened Acetabula with Medial Spikes
Ovoid Ilia
Broad Hypoplastic Ischia
Large Corneae
Round Flat Face
Normal Head Size
Thin, Long Clavicles
Hyperkeratotic Epithelium with Rete Ridges Extending into the Dermis
Broad Gums
Cupid-Bow Mouth
Caused by Mutation in the Anthrax Toxin Receptor 2 Gene
Hyaline Deposition in Dermis
Recurring Subcutaneous Tumors
No Phenotype in Heterozygotes
Rudimentary or Absent Phalanges
Short Metatarsals (especially First Metatarsal)
Ball-Like Toes
Short Metacarpals - Especially First Metacarpal
Mild Hand Shortness
Brachydactyly Complex
Mutation in the WNT7A Gene
Hypoplastic Flexion Creases on Dorsum of Hand
Hypoplastic Metacarpals
Hypoplastic or Aplastic Fibulae
Short, Bowed Radii
Hypoplastic or Aplastic Ulnae
Excessive Wrinkled Skin
Dermal Hydroxylysine Content Normal
Lysl Hydroxylase Activity Normal
Brittle Cornea
Average Age at Death Is 37 Years
Major Cause of Death is Heart Failure
Estimated Carrier Frequency 1 : 100
Most Common Inherited Ataxia
Onset before Adolescence
Mitochondrial Malic Enzyme Decreased
Areflexia of Lower Limbs
Motor and Sensory Nerve Conduction Abnormal
Gait and Limb Ataxia
Majority Are Stillborn or Die in Early Neonatal Period
Pulmonary Lobation Defect
Short Broad Neck
Cloudy Cornea
Two Types - Severe Infantile Form: Type 1 - Milder Form: Type 2
Majority of Patients from Italy and Southwestern United States
Mutations in the Alpha L Fucosidase Gene
Thin Dry Skin
Urine Oligosaccharides Increased
Widened Scalloped Acetabular Roof
Absent or Hypoplastic Coccyx
Small Fifth Lumbar Vertebrae
Anterior Beaking of Thoracic and Lumbar Vertebrae
Short Odontoid
Absent or Hypoplastic Paranasal Sinuses
Progressive Thickening of Diploic Spaces
Spatulated Ribs
Wide Clavicles
Hypotonia Changing to Hypertonia
UDP Galactose 4 Epimerase Deficiency in Circulating Blood Cells Only
Caused by Mutations in the UDP-Galactose-4-Epimerase Gene
Mutations in the UDP-Galactose-4-Epimerase Gene
UDP-Galactose-4-Epimerase Deficiency in All Cells
Cirrhosis if Untreated
Liver Function Progressively Decreased
Ovarian Failure due to Hypergonadotropic Hypogonadism
Gamma Glutamylcysteine Deficiency
Glutathione Deficiency
Late-Onset Spinocerebellar Degeneration
Allelic to Mucopolysaccharidosis IVB
Cherry Red Spot in Half the Patients
Full Forehead
Glomerular Epithelial Cytoplasmic Vacuolization
Survival up to 10 Years
Age at Onset: 7 Months to 3 Years
Caused by Mutation in the Beta-1-Galactosidase Gene
Sea-Blue Histiocyte - Bone Marrow
Mild Flaring of Iliac Wings
Developmental Arrest in 2nd Year of Life
Onset of Disease at Age 3-30 Years
Mutation in the GLB1 Gene
Beta Galactosidase Activity Decreased
Flat Femoral Heads