|
1
|
(HPO:0002927)
|
Histidinuria |
very frequent [IBIS]
|
|
8669938
|
IBIS
|
3 / 7739
|
|
2
|
(HPO:0010906)
|
Hyperhistidinemia |
very frequent [IBIS]
|
|
8669938
|
IBIS
|
1 / 7739
|
|
3
|
(HPO:0010904)
|
Abnormality of histidine metabolism |
very frequent [IBIS]
|
|
8669938
|
IBIS
|
1 / 7739
|
|
4
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
8
|
(HPO:0002167)
|
Neurological speech impairment |
|
|
|
|
308 / 7739
|
|
9
|
(OMIM)
|
Decreased histidase activity |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Decreased urocanic acid in stratum corneum |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Increased histidine in blood, urine, and CSF |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Decreased or absent histidase activity |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Decreased urocanic acid in blood, urine, and skin cells |
|
|
|
|
1 / 7739
|