|
1
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001199)
|
Triphalangeal thumb |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
6
|
(HPO:0001131)
|
Corneal dystrophy |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0009896)
|
Abnormality of the antitragus |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
8
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
|
9
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
10
|
(HPO:0009811)
|
Abnormality of the elbow |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
12
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
13
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
14
|
(HPO:0009748)
|
Large earlobe |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
15
|
(HPO:0001357)
|
Plagiocephaly |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
16
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
17
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
20
|
(HPO:0100759)
|
Clubbing of fingers |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
21
|
(HPO:0009912)
|
Abnormality of the tragus |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
22
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
23
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
24
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
25
|
(HPO:0011803)
|
Bifid nose |
|
|
|
|
12 / 7739
|
|
26
|
(HPO:0000122)
|
Unilateral renal agenesis |
|
|
|
|
24 / 7739
|
|
27
|
(HPO:0000288)
|
Abnormality of the philtrum |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
28
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
29
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
30
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
31
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
32
|
(OMIM)
|
No seizures |
|
|
|
|
5 / 7739
|
|
33
|
(OMIM)
|
HEENT Vertical groove in tip of nose |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Abnormal ear shape |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Highly abnormal EEG |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
37
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
38
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
39
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
40
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|