|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
7
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
8
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
9
|
(HPO:0000418)
|
Narrow nasal ridge |
|
|
|
|
15 / 7739
|
|
10
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
12
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
13
|
(HPO:0000601)
|
Hypotelorism |
rare [HPO:skoehler]
|
|
|
|
83 / 7739
|
|
14
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
16
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
17
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
18
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
19
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
20
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
21
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
22
|
(HPO:0001582)
|
Redundant skin |
|
|
|
|
51 / 7739
|
|
23
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
24
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
25
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
26
|
(HPO:0006487)
|
Bowing of the long bones |
|
|
|
|
95 / 7739
|
|
27
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
28
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
29
|
(OMIM)
|
Poor growth, postnatal |
|
|
|
|
8 / 7739
|
|
30
|
(OMIM)
|
Broad, prominent forehead |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Sagging cheeks |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Aged appearance |
|
|
|
|
3 / 7739
|
|
33
|
(OMIM)
|
Prominent bulbous nose |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
No vascular tortuosity |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Long digits |
|
|
|
|
3 / 7739
|
|
36
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
|
37
|
(HPO:0001234)
|
Hitchhiker thumb |
|
|
|
|
5 / 7739
|
|
38
|
(HPO:0005895)
|
Radial deviation of thumb terminal phalanx |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Reduced skin elasticity |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Wrinkly skin |
|
|
|
|
2 / 7739
|
|
41
|
(OMIM)
|
Prominent veins |
|
|
|
|
3 / 7739
|
|
42
|
(HPO:0001334)
|
Communicating hydrocephalus |
|
|
|
|
32 / 7739
|
|
43
|
(OMIM)
|
No metabolic abnormalities |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|