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Rickets and premature primary tooth loss occur in childhood
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DISO:OMIM |
|
|
Caused by mutation in the EDAR-associated death domain gene (EDARADD, 606603.0002)
|
DISO:OMIM |
|
|
Loss of outer hair cell function
|
DISO:OMIM |
|
|
HYPOTONIA, CONGENITAL NYSTAGMUS, ATAXIA, AND ABNORMAL AUDITORY BRAINSTEM RESPONSES
|
DISO:OMIM |
|
|
Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
|
DISO:MSH |
|
|
Hypotonia, Congenital Nystagmus, Ataxia, And Abnormal Auditory Brainstem Responses
|
DISO:MSH |
|
|
Calcified cricoid cartilage
|
DISO:OMIM |
|
|
Number of hospital D since last outpatient visit
|
DISO:LNC |
|
|
Number of hospital D since last outpatient visit
|
DISO:LNC |
|
|
Transfusion volume | Blood product unit
|
DISO:LNC |
|
|
Advance directive - medication restrictions
|
DISO:LNC |
|
|
Anterior or posterior placement of anus
|
DISO:OMIM |
|
|
Antinuclear antibody present (in some patients)
|
DISO:OMIM |
|
|
Most individuals are wheelchair-bound or bedridden by adolescence
|
DISO:OMIM |
|
|
Grimacing or unusual smile with almost closing of the eyes
|
DISO:OMIM |
|
