| manager |
|
| language |
- |
| license |
- |
| created at |
2017-12-21 11:07:44 UTC |
| updated at |
2017-12-22 12:31:05 UTC |
|
2 layers
|
520,470 entries
|
There is 0 pattern entry.
|
Neck muscle hypoplasia
|
DISO:OMIM |
|
|
Neck muscle hypoplasia
|
DISO:HPO |
|
|
Decreased size of neck muscle
|
DISO:HPO |
|
|
Small neck muscle
|
DISO:HPO |
|
|
Underdevelopment of neck muscle
|
DISO:HPO |
|
|
Metaphyseal flaring (distal femora, proximal tibiae)
|
DISO:OMIM |
|
|
Valvular heart disease Aortic valve stenosis
|
DISO:OMIM |
|
|
A severe infantile variant has been rarely reported
|
DISO:OMIM |
|
|
Flat acetabular angles
|
DISO:OMIM |
|
|
Aberrant melanosome maturation
|
DISO:OMIM |
|
|
Aberrant melanosome maturation
|
DISO:HPO |
|
|
Fractures and dental caries and premature secondary tooth loss occur in adulthood
|
DISO:OMIM |
|
|
Increased risk of leukemia
|
DISO:OMIM |
|
|
Symptoms worsen with fatigue and exercise
|
DISO:OMIM |
|
|
BRANCHIOOTORENAL SYNDROME 2
|
DISO:OMIM |
|
