1
|
(HPO:0000233)
|
Thin vermilion border |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0000581)
|
Blepharophimosis |
Occasional [Orphanet]
|
|
|
|
197 / 7739
|
6
|
(HPO:0000960)
|
Sacral dimple |
|
|
|
|
29 / 7739
|
7
|
(HPO:0010769)
|
Pilonidal sinus |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
8
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
9
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
10
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
11
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
12
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
13
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
14
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
15
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
16
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
17
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
18
|
(HPO:0000325)
|
Triangular face |
Occasional [Orphanet]
|
|
|
|
91 / 7739
|
19
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
20
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
21
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
22
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
23
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
24
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
25
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
26
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
27
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
28
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
29
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
30
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
31
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
32
|
(HPO:0002714)
|
Downturned corners of mouth |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
33
|
(HPO:0001674)
|
Complete atrioventricular canal defect |
|
|
|
|
11 / 7739
|
34
|
(HPO:0006695)
|
Atrioventricular canal defect |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
35
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
36
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
37
|
(HPO:0009796)
|
Branchial cyst |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
38
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
39
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
40
|
(HPO:0000243)
|
Trigonocephaly |
|
|
|
|
40 / 7739
|
41
|
(HPO:0000426)
|
Prominent nasal bridge |
rare [HPO:skoehler]
|
|
|
|
121 / 7739
|
42
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
43
|
(HPO:0000629)
|
Periorbital fullness |
|
|
|
|
13 / 7739
|
44
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
45
|
(HPO:0001104)
|
Macular hypoplasia |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
46
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
47
|
(HPO:0005487)
|
Prominent metopic ridge |
|
|
|
|
28 / 7739
|
48
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
49
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
50
|
(HPO:0012210)
|
Abnormal renal morphology |
rare [HPO:skoehler]
|
|
|
|
18 / 7739
|
51
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
52
|
(OMIM)
|
Low birthweight |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Poorly shaped ears |
|
|
|
|
1 / 7739
|
54
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
55
|
(OMIM)
|
Muscle hypertonicity |
|
|
|
|
2 / 7739
|
56
|
(OMIM)
|
Psychomotor retardation, severe to profound |
|
|
|
|
1 / 7739
|
57
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
58
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|
59
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
60
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
61
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
62
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
63
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
64
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
65
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
66
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|