|
1
|
(HPO:0009380)
|
Aplasia of the fingers |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
3
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
4
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
5
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
6
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
|
7
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
8
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
9
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
10
|
(HPO:0001543)
|
Gastroschisis |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
|
11
|
(HPO:0000308)
|
Microretrognathia |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
12
|
(HPO:0000506)
|
Telecanthus |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
13
|
(HPO:0000171)
|
Microglossia |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
14
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
15
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
16
|
(HPO:0000190)
|
Abnormality of oral frenula |
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
18
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
19
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
20
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
21
|
(HPO:0009776)
|
Adactyly |
|
|
|
|
11 / 7739
|
|
22
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
23
|
(OMIM)
|
Absence of lower incisors |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Limb hypoplasia |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Adactylia |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Hypodactyly |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0100257)
|
Ectrodactyly |
|
|
|
|
27 / 7739
|
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
29
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
30
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
31
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
32
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
33
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
34
|
(HPO:0002242)
|
Abnormality of the intestine |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
35
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
37
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
38
|
(HPO:0012730)
|
Aglossia |
|
|
|
|
3 / 7739
|