|
1
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
2
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
3
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
4
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
5
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
6
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
7
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001800)
|
Hypoplastic toenails |
|
|
|
|
74 / 7739
|
|
11
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0002927)
|
Histidinuria |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
|
14
|
(HPO:0005844)
|
Rounded middle phalanx of finger |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0008666)
|
Impaired histidine renal tubular absorption |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Short, rounded, abnormal-shaped middle phalanges |
|
|
|
|
1 / 7739
|
|
17
|
(MedDRA:10071232)
|
Protuberant ear |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Long shallow philtrum |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Simple auricles |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Short thick fingers |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Short thick toes |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Impaired histidine intestinal absorption |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|