34601 to 34700 most common queries

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

• 2% due to Paternal Uniparental Disomy of 15q11.2-q13
• 70% due to De Novo Maternal Deletion of 15q11.2-q13
• Sensitivity to Heat Increased
• Onset between 6 and 12 Months of Age
• Excessive Drooling
• Abnormal Food-Related Behaviors
• Excessive Chewing or Mouthing Behaviors
• Feeding Difficulties in Neonatal Period
• Attraction to and Fascination with Water and Crinkly Items
• Easily Excitable
• Mild Cortical Atrophy (CT or MRI)
• Need for Sleep Decreased
• Abnormal Sleep-Wake Cycles
• Characteristic Arm Position with Wrist and Elbow Flexion
• Clumsiness - Unsteadiness
• Ataxia with Jerky Arm Movements
• Low Level of C4 and C2
• Patchy Alopecia
• Sparse or Absent Eyelashes
• Rare Arterial Occlusion
• Type 2 - Normal Antithrombin III Level but Decreased Activity
• Z Allele Almost Exclusively in Caucasians
• Emphysema Especially at Bases
• Alveolar Wall Destruction
• Narrow Airways
• Increased Risk of Hepatocellular Carcinoma
• Infantile Liver Abnormalities in < 20% with Deficiency
• Hepatic Intracellular Inclusions in ZZ Homozygotes
• Mutation in the PI Gene
• Mild Fat Malabsorption
• Particularly High Incidence in Identical Twins
• Pterygia
• Dimples Overlying Contractures
• Severe Metacarpal or Phalangeal Joint Contractures
• Flexion of Wrist and Hand ("Policeman Tip Position")
• Decreased Bone Growth in Affected Limbs
• Extension of Elbows
• Abducted Hips
• Adducted Hips
• Stiff, Straight Spine
• Hypoplastic Deltoids
• Shoulder Muscle Mass Decreased
• Non-Duodenal Intestinal Atresia
• Long Bone Fractures during Delivery
• Cord Wrapping of Limb
• Dimples Over Large Joints
• Absent Phalangeal Creases
• Forearm Rotation Limited
• Muscle Mass Decreased - Especially in Lower Limbs
• Macular Retinal Folds
• Hunched Anteverted Shoulders
• Flat, Irregular Femoral Epiphyses
• Platyspondyly with Anterior Wedging
• Membranous Vitreous Phenotype
• Occasional Cataracts
• Occasional Conductive Hearing Loss
• Acetazolamide Mitigates Episodic Attacks
• Onset May Occur in Adulthood
• Ocular Abnormalities Often Persist between Attacks
• Suppression of Vestibuloocular Reflex
• Ictal and Interictal Diplopia
• EEG Paroxysmal Activity
• Interictal Ataxia May Occur Later in Disease Course
• Possibly Interictal Dystonia Later in Disease course
• Interictal Downbeat Nystagmus
• Episodes Last from Several Hours to Days
• Episodic Unsteadiness
• Stillbirth or Immediate Neonatal Death
• Well-Ossified Distal Phalanges
• Bowed Short Tibiae
• Short Femora with Proximal Clubbing and Distal Tapering
• Short, Bowed Radius
• Short Humeri with Proximal Clubbing and Distal Tapering
• Sagittal Clefts
• Abnormal Segmentation
• Edematous Eyelids
• Narrow Thoracic Cage
• Hitchhiker Halluces
• Tombstone-Shaped Proximal Phalanges
• Club-Shaped Femora
• Club-Shaped Humeri with Early Proximal Epiphyseal Ossification
• Vertical Block-Like Ischia
• Rounded Iliac Bones with Shortened Sacrosciatic Notches
• Cervical Spine Segmentation Defects
• Tall Lumbar Vertebrae
• Prominent Schwalbe Line
• Mild Proptosis
• Wide Clinical Variability
• Abnormal Electrooculogram EOG
• Impaired Thermal Sense
• Sparing of the Inferior Olives
• Mild Loss of Neurons in the Cerebellum
• Fourth Ventricle Mildly Enlarged
• Autonomic Dysfunction May Occur
• Dystonia (<20%)
• Dementia (<20%)
• Facial-Lingual Fasciculation
• Lateral Displacement of the Inner Canthi
• Two Types - One with Premature Ovarian Failure and One without
• Mutation in the Forkhead Transcription Factor FOXL2 Gene