1
|
(HPO:0004378)
|
Abnormality of the anus |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
2
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
3
|
(HPO:0001582)
|
Redundant skin |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
4
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
5
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
6
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
7
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
9
|
(HPO:0000046)
|
Scrotal hypoplasia |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
10
|
(HPO:0003045)
|
Abnormality of the patella |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
11
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
12
|
(HPO:0001595)
|
Abnormality of the hair |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
13
|
(HPO:0000464)
|
Abnormality of the neck |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
14
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
15
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
16
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
17
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
18
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
19
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
20
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
21
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
|
|
355 / 7739
|
22
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
23
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
24
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
25
|
(HPO:0001636)
|
Tetralogy of Fallot |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
26
|
(HPO:0000478)
|
Abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
27
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
28
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
29
|
(HPO:0000389)
|
Chronic otitis media |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
30
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
31
|
(HPO:0010285)
|
Oral synechia |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
32
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
33
|
(HPO:0001869)
|
Deep plantar creases |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
34
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
35
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
36
|
(HPO:0000283)
|
Broad face |
|
|
|
|
12 / 7739
|
37
|
(HPO:0100729)
|
Large face |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
38
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [Orphanet]
|
|
|
|
316 / 7739
|
39
|
(HPO:0002714)
|
Downturned corners of mouth |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
40
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
41
|
(HPO:0002162)
|
Low posterior hairline |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
42
|
(HPO:0000766)
|
Abnormality of the sternum |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
43
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
44
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
45
|
(HPO:0000079)
|
Abnormality of the urinary system |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
46
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
47
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
48
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
49
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
50
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
51
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
52
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
53
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
54
|
(HPO:0001719)
|
Double outlet right ventricle |
|
|
|
|
12 / 7739
|
55
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
56
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
57
|
(HPO:0002188)
|
Delayed CNS myelination |
|
|
|
|
16 / 7739
|
58
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
59
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
60
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
61
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
62
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
63
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
64
|
(HPO:0100876)
|
Infra-orbital crease |
|
|
|
|
4 / 7739
|
65
|
(OMIM)
|
Wide face |
|
|
|
|
2 / 7739
|
66
|
(OMIM)
|
Misshapen ears |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Abnormal spacing of the teeth |
|
|
|
|
1 / 7739
|
68
|
(HPO:0001710)
|
Conotruncal defect |
|
|
|
|
3 / 7739
|
69
|
(OMIM)
|
Pectus excavatum, progressive |
|
|
|
|
1 / 7739
|
70
|
(OMIM)
|
Radiographic studies show a single ossification center in the sternum |
|
|
|
|
1 / 7739
|
71
|
(OMIM)
|
Genitourinary anomalies (48%) |
|
|
|
|
1 / 7739
|
72
|
(OMIM)
|
Dilated collecting tubules |
|
|
|
|
1 / 7739
|
73
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
74
|
(OMIM)
|
Progressive scoliosis |
|
|
|
|
6 / 7739
|
75
|
(OMIM)
|
Deep plantar furrows |
|
|
|
|
1 / 7739
|
76
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
77
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
78
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
79
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
80
|
(OMIM)
|
Cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1 |
|
|
|
|
1 / 7739
|
81
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
82
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
83
|
(HPO:0000168)
|
Abnormality of the gingiva |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
84
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
85
|
(HPO:0012471)
|
Thick vermilion border |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
86
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
87
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
88
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
89
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|