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34601 to 34700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
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
Scant Pubic and Axillary Hair