|
1
|
(HPO:0000995)
|
Melanocytic nevus |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000921)
|
Missing ribs |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
5
|
(HPO:0001053)
|
Hypopigmented skin patches |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
6
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
9
|
(HPO:0009719)
|
Hypomelanotic macule |
|
|
|
|
4 / 7739
|
|
10
|
(OMIM)
|
Congenital hypomelanotic and hypermelanotic cutaneous macules |
|
|
|
|
1 / 7739
|
|
11
|
(MedDRA:10025421)
|
Macule |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
12
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
14
|
(HPO:0001034)
|
Hypermelanotic macule |
|
|
|
|
22 / 7739
|