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30101 to 30200 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Overlapping Features with Barber-Say Syndrome
Absent Lanugo
Redundant Folds
Microblepharon
Rudimentary External Ears
Zygomatic Arches Absent
Aplasia or Hypoplasia of the Nipples
Tapered Distal End of Hair
Twisted Hair Shaft
Mutation in the EVC2 Gene
Mutation in the EVC Gene
Variable Expressivity of Each Feature
Most Common Inherited Bleeding Disorder
Variably Expressivity
Mucocutaneous Bleeding
Prolonged Bleeding Time due to Quantitative Deficiency of VWF Protein
Factor VIII Decreased
VWF Antigen Decreased
Mutation in the ANKRD26 Gene
Mutation in the JAK2 Gene
Mutation in the THPO Gene
Most Frequent among Black Africans
Ainhum of Toe (Usually 5th Toe)
Absence of Lower Incisors
Hypodactyly
Caused by Mutation in the Adenylosuccinate-Lyase Gene
Cupping and Flaring of Costochondral Junctions
Banded Hair Shafts
Irregular Cuticles on Hair Shafts
Mutation in the TMEM16E Gene
Favorable Response to Riboflavin
Long Chain Acylcarnitine Species Elevated
Hypoketotic Dicarboxylic Aciduria
Caused by Mutation in the Transcription Factor 4 Gene
Thick, Indurated Skin
Relative Short Stature
Diffuse Entrapment Neuropathy
Short Trunk Dwarfism Identifiable at Birth
Caused by Mutation in the CREB-Binding Protein Gene
Antecubital Webbing
Limited Elbow Extension with Normal Elbow Flexion
Posterior Subluxation of the Radial Head
Caused by Mutation in the Homeobox HB9 Gene
Paradoxical Sweating Response
Ratio Female to Male 19:10 in Index Family
Late-Onset Corneal Degeneration
Variable Severity of Brain Malformations
Death in Infancy in 2 Patients
Mutation in the GLUL Gene
Necrotic Epidermolysis
Blistering Erythematous Rash
Glutamine in Bodily Fluids Decreased
Micromelia
Small Smooth Cerebellum
Attenuated Gyri
Onset Usually by Age 2 Years
Mild to Moderate Neck Muscle Weakness
Mild to Moderate Facial Muscle Weakness
Mild to Moderate Muscle Weakness of the Face and Neck
Mild to Moderate Proximal Limb Muscle Weakness
Corpus, Tail and Uncinate Process Absent
Pancreatic Head Enlarged
Susceptibility to Diabetes Mellitus
Mutation in the Aggrecan Gene
Brachydactyly in the Distal Phalanx of the First and Third Digits
Slightly Shorter Metacarpal Bones II, III, and IV
Numbness of the Little Finger and Ulnar Half of the Ring Finger
Broadening of the Head of the Radius
Flattening of the Capitulum of the Humerus
Loss of Movement in the Knees
Loss of Movement in the Elbows
High Ratio between Sitting Height and Total Height
Low Intervertebral Discs in Thoracic and Lumbar Spine
Polyarticular Villonodular Synovitis
Mutation in the Uromodulin Gene
Caused by Mutation in the Collagen VI Alpha-2 Polypeptide Gene
Mutation in the COL6A1 Gene
Exaggerated Oral Rugae and Frenula
Intraoral Mucosal Overgrowth
Progressive Thickened Lips
Thickened Upper Eyelids
Large, Doughy Hands
No Facial Weakness
Muscle Biopsy Shows Core-Like Regions Devoid of Oxidative Activity
Loss of Myofibrillar Organization (Muscle Biopsy)
Muscle Biopsy Shows Type 1 Fiber Predominance and Hypertrophy
Progressive Fatty Infiltration of Muscle
Poor Exercise Tolerance
Slow Motor Responses to Sudden Events like Falling
Limb Muscle Weakness Proximal Upper and Lower
Gait Abnormalities due to Muscle Weakness
Mitochondrial Abnormalities in Nerve Biopsy
Pyramidal Features
Non-Robertsonian Constitutional Translocation t(11;22)(q23;q11.2)
Infantile Onset with Hepatic Involvement
Rapidly Progressive Neonatal Onset with Early Death
Mutation in the CD3D Gene
Mutation in the IL7R Gene
Serum Immunoglobulins May Be Absent, Normal or Increased
Number of Peripheral Blood B Cells Normal or Elevated