32301 to 32400 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Caused by Mutation in the Transglutaminase 5 Gene
• Spontaneous Non-Scarring Healing
• Residual Painless Erythema
• Superficial Skin Peeling Limited to Dorsa of Hands and Feet
• Patients May Show Normal Development
• Mutation in the ACY1 Gene
• Urine N-Acetylated Amino Acids Increased
• Aminoacylase-1 Activity Decreased
• Mild to Moderate Psychomotor Retardation
• Onset 0-12 Hours after Birth
• Caused by Mutations in the Marvel Domain Containing Protein 2 Gene
• Mutation in the TGFBR2 Gene
• Wide and Short Nape of the Neck
• Severe Truncal Ataxia
• Mean Age at Diagnosis Is 38 Years
• Caused by Mutation in the Desmoglein 2 Gene
• Onset of Dilated Cardiomyopathy Less than 3 Years
• Frequency in the Canadian Dariusleut Hutterites Increased
• Early-Onset Dilated Cardiomyopathy
• Hepatic Enzymes Mildly Increased
• Radiography Shows Porotic Changes
• Periosteal Reaction
• Adult Onset of Gait Abnormalities
• Ptosis (with Longer Disease Duration)
• Ophthalmoparesis (with Longer Disease Duration)
• Smooth Pursuit Abnormalities
• Muscle Tone in Lower Limbs Increased
• Deafness Affects All Frequencies
• Mutation in the REEP1 Gene
• Proximal Weakness of the Lower Extremities
• Deep Tendon Reflexes Slightly Decreased
• Neuromuscular Tone Slightly Decreased
• Pachygyria Bilateral Frontotemporal
• Macula Clear in Early Stages
• Blood Vessels in Periphery Attenuated
• Night Blindness Followed by Complete Blindness
• Allelic with Cone Rod Dystrophy Type 10
• Caused by Mutation in the Semaphorin 4A Gene
• Hepatic Venous Thrombosis
• Onset of Thrombosis by Age 2 Years
• Mutation in the Phosphatidylinositol Glycan Class M Gene
• No Bone Marrow Abnormalities
• No Hemolysis
• Variable Pattern of Body Involvement
• Mutation in the Epsilon-Sarcoglycan Gene
• Dilated Cardiomyopathy May Occur
• Hypotrophy of Type 1 Fibers
• Atrophy of Ankle and Toe Extensor Muscles
• Weakness of Ankle and Toe Extensor Muscles
• Muscle Wasting (Especially Temporal, Face, and Neck)
• Sleep-Onset REM
• Germline and Somatic Mutations Contribute to this Disorder
• Toe Abnormalities
• Finger Abnormalities
• Pigmented Malformed Teeth
• Allelic to LEOPARD Syndrome
• Taurodontism
• Histology Shows Degeneration of Retinal Ganglion Cells
• Temporal Optic Nerve Pallor
• Variable Severity and Progression
• Caused by Mutation in the Keratin 6A Gene (KRT6A)
• Caused by Mutation in the Keratin 16 Gene
• Incomplete Penetrance of the 3 Main Clinical Signs: Myopathy - Dementia - Paget Disease
• Many Patients Become Wheelchair-Bound
• Mean Age at Onset of Dementia: 57 Years
• Mean Age at Onset of Bone Disease Is 40 Years
• Ubiquitin-Positive Intranuclear Neuronal Inclusions
• Dystrophic Neurites
• Attacks Tend to Decrease with Age
• Non-Epileptic Tonic Attacks
• Both Reported Cases Survived Beyond Infancy
• Allelic to Greenberg Dysplasia
• Hypokalemia during Periodic Paralysis
• Mild Learning Disabilities
• Periodic Paralysis Usually Hypokalemic
• Allelic to Birt Hogg Dube Syndrome
• Renal Biopsy Shows Medullary Cysts
• Mutation in the Uroporphyrinogen Decarboxylase Gene
• Rectal Dilatation
• Mutation in the Cardiotrophin-Like Cytokine Gene
• Bilateral Syndactyly
• Mild Sensorimotor Peripheral Neuropathy
• Sloping Epiphyses of the Radii
• Short Distal Ulnae
• Rhizomelic Shortening of the Long Bones Particularly the Upper Limbs
• Irregular Sacro Iliac Joints
• Narrowed Lumbar Canal
• Frequency and Severity of Seizures Tends to Decrease with Age
• EEG Shows Frontal Lobe Origin
• Tongue Movements, Protrusions
• Hypermotor Behavior
• Complex Motor Behavior Such as Sleep Walking
• Shivering Sensation
• Frightening Sensation
• Fearful Expression
• Unintelligible Speech Vocalizations Grunting
• Sudden Awakening
• Nocturnal Seizures Usually Occur in Daily Clusters
• Allelic to Hyperimmunoglobulinemia D Syndrome
• Eversion of Lower Lip