24501 to 24600 most common queries

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

• All Reported Cases Have Occurred De Novo
• Long Hair
• Ulnar Deviation of the Metacarpophalangeal Joints
• Mild Intellectual Disability in a Second Family
• Onset at Age 2-8 Months
• Mutation in the TBC1 Domain Family Member 24 Gene
• Mildly Delayed Motor and Speech Development
• Mutation in the Reticulon 2 Gene
• Mutation in the BMP2 Gene
• Mild Facial Anomalies
• Mutation in the Fibrillin 1 Gene
• Well-Defined Eyebrows
• Pseudomuscular Build
• Second Metacarpal Notched Proximally on Radial Side
• Short, Stubby Phalanges
• Short, Stubby Metacarpals
• Mutation in the Ryanodine Receptor 2 Gene
• Atrioventricular Node Dysfunction
• Sinoatrial Node Dysfunction
• Caused by Mutation in the Lipase H Gene (LIPH)
• Comedo-Like Remnant Hair Follicles on Skin Biopsy
• Tapered Distal End
• Trichorrhexis Nodora-Like Anomaly
• Sparse to No Body Hair
• Sparse to No Eyebrows
• Sparse Scalp Hair from Birth
• Mutation in the CEP152 Gene
• Microcephaly - 5 to 7 SD below the Mean
• Brain Size Reduced
• Jerky Movements in Infancy
• Mild Psychomotor Delay
• Variable Phenotype Particularly with Regard to Cortical Malformations
• Microcephaly (4-7 SD)
• Afebrile Seizures Later in Childhood
• Persistence of Febrile Seizures Beyond Age 6 Years
• Subcortical Nodular Grey Matter Heterotopia
• Obstruction of the Foramen of Monro
• Focal Cerebellar Dysplasia
• Cerebellar Hypoplasia due to Enlarged Foramen Magnum
• Brain MRI Shows Hypoplasia of the Corpus Callosum
• Hypermobile Fingers (Beak of Swan)
• Recurrent Infections at Variable Sites
• Phosphate Normal or Increased
• Calcium Low or Normal
• Multiple Hormone Resistance
• Mutation in the DNAJB6 Gene
• Fatty Replacement
• Inclusions Are TDP43 Immunoreactive
• DNAJB6-Immunoreactive Inclusions
• Tubulofilamentous Inclusions
• Myofibrillar Disintegration
• Muscle Fiber Splitting and Fibrosis Seen on Muscle Biopsy
• Myopathic Changes Seen on EMG
• Frequency of Homozygotes in Korea: 1 in 50,000
• Frequency of SLC25A13 Homozygotes in Japan: 1 in 19,000
• Frequency in Individuals of Asian Descent Increased
• Favoring of Fat and Protein
• Mean Age at Diagnosis: 40 Years
• Secondary Decreased Activity of Argininosuccinate Synthetase
• Pancreatic Secretory Trypsin Inhibitor Increased
• Sudden Onset of Neuropsychiatric Symptoms
• Marked Cachexia
• Decreased Activities of Complexes I, III and IV - Variable
• Activity of Cytochrome C Oxidase Decreased (Muscle Biopsy)
• Distal Limb Muscle Atrophy
• Incomplete Penetrance with 45 to 51 Repeats
• Pathogenic Alleles Contain 52 to 86 Repeats
• Normal Alleles Contain up to 44 Repeats
• Trinucleotide Repeat Expansion in the MJD Gene
• Mutation in the NKX2-5 Gene
• Mitral Valve Double Orifice
• Atrioventricular Conduction Defects
• Pupillary Constriction to Light Impaired
• Mutation in the Muscarinic Cholinergic Receptor 3 Gene
• Non-Clonal Myeloproliferation
• Inflammatory Markers Elevated
• Intrauterine Fractures of Long Bones and Clavicles
• Polyclonal Hyperglobulinemia
• Nasal Mass due to Histiocytosis
• Orbital Mass due to Histiocytosis
• Histiocytic Deposits in Eyelids
• Mild Pancreatic Hypoplasia
• Normal Alleles Contain up to 30 Repeats
• Mutation in the CHKB Gene
• Dilated Cardiomyopathy (in about 50%)
• Mitochondria Are Placed at the Periphery of Muscle Fibers
• Some Patients Never Achieve Independent Ambulation
• Dysmorphic Facial Features May not be Present
• Mutation in the 24-Dehydrocholesterol Reductase Gene
• Gyral Pattern Effaced
• White Matter Decreased
• Fat Pads Become Less Prominent with Time
• Deep Grooves on Soles with Pillowing in between
• Deep Creases on Palms with Pillowing in Between
• Fat Pads Anterior to Calcaneus
• Long Upper Lip with Thin Vermilion Border
• Short and Narrow Palpebral Fissures
• High Frontal Hairline
• Less than Fiftieth Centile
• <10th Percentile