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32301 to 32400 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
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
Hirsutism (Back and Legs)