|
1
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0005487)
|
Prominent metopic ridge |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
4
|
(HPO:0000243)
|
Trigonocephaly |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
5
|
(HPO:0000154)
|
Wide mouth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
6
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
7
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
8
|
(HPO:0000456)
|
Bifid nasal tip |
|
|
|
|
11 / 7739
|
|
9
|
(HPO:0000341)
|
Narrow forehead |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0001783)
|
Broad metatarsal |
|
|
|
|
9 / 7739
|
|
11
|
(HPO:0006009)
|
Broad phalanx |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
13
|
(OMIM)
|
Broad metatarsals and phalanges |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
15
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
16
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
17
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0011803)
|
Bifid nose |
|
|
|
|
12 / 7739
|