LAMA5
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 10.0% | 1/10 |
| Female | 90.0% | 9/10 |
| Indifferent | 0% | 0/10 |
| Unknown | 0% | 0/10 |
| General | ||
| Birth Length abnormalities | 0% | 0/10 |
| Birth Weight abnormalities | 0% | 0/10 |
| Birth Head circumference abnormalities | 0% | 0/10 |
| Current Height abnormalities | 0% | 0/10 |
| Current Weight abnormalities | 0% | 0/10 |
| Current Head circumference abnormalities | 0% | 0/10 |
| Neurology | ||
| Neurological abnormalities | 80.0% | 8/10 |
| Areflexia of lower limbs | 80.0% | 8/10 |
| Areflexia of upper limbs | 50.0% | 5/10 |
| Myalgia | 10.0% | 1/10 |
| Sensory ataxia | 10.0% | 1/10 |
| Skeletal myopathy | 10.0% | 1/10 |
| Behavioral problems | 70.0% | 7/10 |
| Anxiety | 30.0% | 3/10 |
| Depression | 30.0% | 3/10 |
| Abnormal fear/anxiety-related behavior | 10.0% | 1/10 |
| Brain abnormality | 10.0% | 1/10 |
| Abnormality of the cerebral vasculature | 10.0% | 1/10 |
| Facial abnormalities | ||
| Abnormality of the eye | 60.0% | 6/10 |
| Myopia | 50.0% | 5/10 |
| Abnormality of the vitreous humor | 10.0% | 1/10 |
| Visual and hearing impairments | ||
| Abnormal hearing | 30.0% | 3/10 |
| Bilateral sensorineural hearing impairment | 20.0% | 2/10 |
| Hearing abnormality | 10.0% | 1/10 |
| Abnormal vision | 100.0% | 10/10 |
| Abnormality of the vitreous humor | 70.0% | 7/10 |
| Myopia | 30.0% | 3/10 |
| Posterior vitreous detachment | 20.0% | 2/10 |
| Severe Myopia | 20.0% | 2/10 |
| Heart | ||
| Abnormality of the heart | 10.0% | 1/10 |
| Hypertension | 10.0% | 1/10 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 90.0% | 9/10 |
| Malabsorption | 90.0% | 9/10 |
| Nausea | 10.0% | 1/10 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 10/10 |
| Joint laxity | 60.0% | 6/10 |
| Osteoarthritis | 40.0% | 4/10 |
| Abnormality of joint mobility | 20.0% | 2/10 |
| Generalized osteoporosis | 20.0% | 2/10 |
| Abnormality of hand joint mobility | 10.0% | 1/10 |
| Generalized joint laxity | 10.0% | 1/10 |
| Increased laxity of fingers | 10.0% | 1/10 |
| Ligamentous laxity | 10.0% | 1/10 |
| Localized osteoporosis | 10.0% | 1/10 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 10/10 |
| Ligamentous laxity | 60.0% | 6/10 |
| Atypical scarring of skin | 20.0% | 2/10 |
| Generalized joint laxity | 10.0% | 1/10 |
| Increased laxity of fingers | 10.0% | 1/10 |
| Joint laxity | 10.0% | 1/10 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 10.0% | 1/10 |
| Abnormality of the thyroid gland | 10.0% | 1/10 |