1
|
(HPO:0000738)
|
Hallucinations |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
3
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
4
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
5
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
6
|
(HPO:0010488)
|
Aplasia/Hypoplasia of the palmar creases |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
7
|
(HPO:0006482)
|
Abnormality of dental morphology |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
8
|
(HPO:0001805)
|
Thick nail |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
9
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
10
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
11
|
(HPO:0011069)
|
Increased number of teeth |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
12
|
(HPO:0006487)
|
Bowing of the long bones |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
13
|
(HPO:0011073)
|
Abnormality of dental color |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
14
|
(HPO:0000995)
|
Melanocytic nevus |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
15
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
16
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
17
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
18
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
19
|
(HPO:0000601)
|
Hypotelorism |
Frequent [Orphanet]
|
|
|
|
83 / 7739
|
20
|
(HPO:0000689)
|
Dental malocclusion |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
21
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
22
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
23
|
(HPO:0005720)
|
Shortening of all metacarpals |
|
|
|
|
12 / 7739
|
24
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
25
|
(HPO:0002857)
|
Genu valgum |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
26
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
27
|
(HPO:0000957)
|
Cafe-au-lait spot |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
28
|
(HPO:0001852)
|
Sandal gap |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
29
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
30
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
31
|
(HPO:0002353)
|
EEG abnormality |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
32
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
33
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
34
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
35
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
36
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
|
|
254 / 7739
|
37
|
(HPO:0000664)
|
Synophrys |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
38
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Occasional [Orphanet]
|
|
|
|
90 / 7739
|
39
|
(HPO:0000389)
|
Chronic otitis media |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
40
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
41
|
(HPO:0001770)
|
Toe syndactyly |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
42
|
(HPO:0001773)
|
Short foot |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
43
|
(HPO:0000674)
|
Anodontia |
|
|
|
|
18 / 7739
|
44
|
(HPO:0000954)
|
Single transverse palmar crease |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
45
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
46
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
47
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
48
|
(HPO:0009796)
|
Branchial cyst |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
49
|
(HPO:0000341)
|
Narrow forehead |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
50
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
51
|
(HPO:0000538)
|
Pseudopapilledema |
|
|
|
|
4 / 7739
|
52
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
53
|
(HPO:0001054)
|
Numerous nevi |
|
|
|
|
8 / 7739
|
54
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
55
|
(HPO:0001438)
|
Abnormality of the abdomen |
|
|
|
|
28 / 7739
|
56
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
57
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
58
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
59
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
60
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
61
|
(OMIM)
|
Birthweight <10th percentile |
|
|
|
|
1 / 7739
|
62
|
(MedDRA:10027757)
|
Mixed deafness |
|
|
|
|
1 / 7739
|
63
|
(OMIM)
|
Absence of sulcus orbitopalpebralis superior (upper eyelid crease) |
|
|
|
|
1 / 7739
|
64
|
(OMIM)
|
Broad nasal base |
|
|
|
|
2 / 7739
|
65
|
(OMIM)
|
Darkly colored teeth (reddish-brown) |
|
|
|
|
1 / 7739
|
66
|
(OMIM)
|
Multiple episodes of choking (1st year of life) |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Single flexion crease fingers 2, 3, +/-5 |
|
|
|
|
1 / 7739
|
68
|
(OMIM)
|
Hypoplastic thenar, hypothenar, and interdigital eminences |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Palmar keratosis |
|
|
|
|
1 / 7739
|
70
|
(OMIM)
|
Zygodactyly |
|
|
|
|
1 / 7739
|
71
|
(OMIM)
|
Short 3rd-4th toes |
|
|
|
|
1 / 7739
|
72
|
(OMIM)
|
Protruding calcaneus |
|
|
|
|
1 / 7739
|
73
|
(OMIM)
|
Poorly developed palmar creases |
|
|
|
|
1 / 7739
|
74
|
(OMIM)
|
Partial growth hormone deficiency |
|
|
|
|
1 / 7739
|
75
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
76
|
(HPO:0001172)
|
Abnormality of the thumb |
Occasional [Orphanet]
|
|
|
|
103 / 7739
|
77
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
78
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
79
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
80
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
81
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
82
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
83
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
84
|
(HPO:0012810)
|
Wide nasal base |
|
|
|
|
3 / 7739
|