ADAMTSL2 autosomal dominant
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 25.0% | 1/4 |
| Female | 75.0% | 3/4 |
| Indifferent | 0% | 0/4 |
| Unknown | 0% | 0/4 |
| General | ||
| Birth Length abnormalities | 0% | 0/4 |
| Birth Weight abnormalities | 0% | 0/4 |
| Birth Head circumference abnormalities | 0% | 0/4 |
| Current Height abnormalities | 25.0% | 1/4 |
| > P98 : Tall stature | 25.0% | 1/4 |
| Current Weight abnormalities | 25.0% | 1/4 |
| > P98 : Increased body weight | 25.0% | 1/4 |
| Current Head circumference abnormalities | 0% | 0/4 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 4/4 |
| Arthralgia | 75.0% | 3/4 |
| Fatigue | 75.0% | 3/4 |
| Abnormal spinal meningeal morphology | 25.0% | 1/4 |
| Central nervous system cyst | 25.0% | 1/4 |
| Decreased intracranial pressure | 25.0% | 1/4 |
| Dysphagia | 25.0% | 1/4 |
| Gait disturbance | 25.0% | 1/4 |
| Headache | 25.0% | 1/4 |
| Horner syndrome | 25.0% | 1/4 |
| Hypotonia | 25.0% | 1/4 |
| Impaired mastication | 25.0% | 1/4 |
| Migraine | 25.0% | 1/4 |
| obsolete Poor coordination | 25.0% | 1/4 |
| Shoulder girdle muscle weakness | 25.0% | 1/4 |
| Spinal meningeal diverticulum | 25.0% | 1/4 |
| Stroke | 25.0% | 1/4 |
| Vertigo | 25.0% | 1/4 |
| Behavioral problems | 25.0% | 1/4 |
| Attention deficit hyperactivity disorder | 25.0% | 1/4 |
| Atypical behavior | 25.0% | 1/4 |
| Facial abnormalities | ||
| Abnormality of the eye | 50.0% | 2/4 |
| Blue sclerae | 50.0% | 2/4 |
| Visual and hearing impairments | ||
| Abnormal vision | 25.0% | 1/4 |
| Amblyopia | 25.0% | 1/4 |
| Exotropia | 25.0% | 1/4 |
| Heart | ||
| Abnormality of the heart | 100.0% | 4/4 |
| Varicose veins | 50.0% | 2/4 |
| Abnormal vertebral artery morphology | 25.0% | 1/4 |
| Abnormal renal artery morphology | 25.0% | 1/4 |
| Arterial dissection | 25.0% | 1/4 |
| Heart murmur | 25.0% | 1/4 |
| Mitral valve prolapse | 25.0% | 1/4 |
| Orthostatic hypotension | 25.0% | 1/4 |
| Tachycardia | 25.0% | 1/4 |
| Vascular dilatation | 25.0% | 1/4 |
| Pulmonary | ||
| Abnormality of the lungs | 25.0% | 1/4 |
| Asthma | 25.0% | 1/4 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 25.0% | 1/4 |
| Constipation | 25.0% | 1/4 |
| Vomiting | 25.0% | 1/4 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 2/4 |
| Urinary incontinence | 50.0% | 2/4 |
| Hydronephrosis | 25.0% | 1/4 |
| Hydroureter | 25.0% | 1/4 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 4/4 |
| Hyperextensibility at elbow | 50.0% | 2/4 |
| Joint hypermobility | 50.0% | 2/4 |
| Abnormal intervertebral disk morphology | 25.0% | 1/4 |
| Abnormality of the ankle | 25.0% | 1/4 |
| Abnormal anterior fontanelle morphology | 25.0% | 1/4 |
| Ankle flexion contracture | 25.0% | 1/4 |
| Cervical spondylosis | 25.0% | 1/4 |
| Hyperextensibility of the finger joints | 25.0% | 1/4 |
| Hyperextensible hand joints | 25.0% | 1/4 |
| Hyperextensibility of the knee | 25.0% | 1/4 |
| Hyperextensible thumb | 25.0% | 1/4 |
| obsolete Joint hyperflexibility | 25.0% | 1/4 |
| obsolete Joint laxity | 25.0% | 1/4 |
| obsolete Abnormality of the metacarpal bones | 25.0% | 1/4 |
| Spinal canal stenosis | 25.0% | 1/4 |
| Spinal cord compression | 25.0% | 1/4 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 4/4 |
| Abnormality of connective tissue | 75.0% | 3/4 |
| Bruising susceptibility | 25.0% | 1/4 |
| Cutis laxa | 25.0% | 1/4 |
| Decreased adipose tissue | 25.0% | 1/4 |
| Poor wound healing | 25.0% | 1/4 |
| Striae distensae | 25.0% | 1/4 |
| Telangiectases producing 'marbled' skin | 25.0% | 1/4 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 25.0% | 1/4 |
| Decreased circulating level of specific antibody | 25.0% | 1/4 |