|
1
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
4
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
5
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
7
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
8
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
13
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
14
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
15
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
16
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
17
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
18
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
19
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
20
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
21
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
22
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
23
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
24
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
25
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
26
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
27
|
(HPO:0010714)
|
2-4 toe syndactyly |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Hairy forehead |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Retrobulbar venous varix |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Prominent columella |
|
|
|
|
4 / 7739
|
|
31
|
(OMIM)
|
Straight mouth |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Arachnoidal cyst |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Diffuse enlargement of subarachnoid spaces and lateral ventricles (rare) |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Megacisterna magna (rare) |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Dystonic tongue protrusion |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
37
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
39
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
40
|
(HPO:0000062)
|
Ambiguous genitalia |
rare [HPO:skoehler]
|
|
|
|
74 / 7739
|
|
41
|
(HPO:0000668)
|
Hypodontia |
rare [HPO:skoehler]
|
|
|
|
81 / 7739
|
|
42
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
43
|
(HPO:0000998)
|
Hypertrichosis |
rare [HPO:skoehler]
|
|
|
|
52 / 7739
|
|
44
|
(HPO:0008070)
|
Sparse hair |
rare [HPO:skoehler]
|
|
|
|
94 / 7739
|