|
Premature Ovarian Failure 5
|
DISO:Disease or Syndrome |
|
|
PREMATURE OVARIAN FAILURE 5
|
DISO:Disease or Syndrome |
|
|
Short phalanges (middle phalanges)
|
DISO:Finding |
|
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9
|
DISO:Disease or Syndrome |
|
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 26
|
DISO:Disease or Syndrome |
|
|
Deafness, profound, by 6th decade
|
DISO:Finding |
|
|
Average onset 6-10 months (range 3-24)
|
DISO:Finding |
|
|
Absent platelet aggregation response to epinephrine
|
DISO:Finding |
|
|
Distal upper limb involvement may occur later
|
DISO:Finding |
|
|
Histopathology shows rosettes of immature retinal cells in vascular connective tissue
|
DISO:Finding |
|
|
Onset of hearing loss prior to or during adolescence
|
DISO:Finding |
|
|
Spermatozoa Abnormal Head | Semen
|
DISO:Finding |
|
