|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000268)
|
Dolichocephaly |
2 of 4 [HPO:skoehler]
|
|
|
|
144 / 7739
|
|
3
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
4
|
(HPO:0000276)
|
Long face |
1 of 4 [HPO:skoehler]
|
|
|
|
109 / 7739
|
|
5
|
(HPO:0000286)
|
Epicanthus |
3 of 4 [HPO:skoehler]
|
|
|
|
371 / 7739
|
|
6
|
(HPO:0000325)
|
Triangular face |
2 of 4 [HPO:skoehler]
|
|
|
|
91 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
2 of 4 [HPO:skoehler]
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0000365)
|
Hearing impairment |
1 of 4 [HPO:skoehler]
|
|
|
|
539 / 7739
|
|
9
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
10
|
(HPO:0000369)
|
Low-set ears |
2 of 4 [HPO:skoehler]
|
|
|
|
372 / 7739
|
|
11
|
(HPO:0000490)
|
Deeply set eye |
1 of 4 [HPO:skoehler]
|
|
|
|
131 / 7739
|
|
12
|
(HPO:0000494)
|
Downslanted palpebral fissures |
2 of 4 [HPO:skoehler]
|
|
|
|
328 / 7739
|
|
13
|
(HPO:0000581)
|
Blepharophimosis |
1 of 4 [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0000821)
|
Hypothyroidism |
2 of 4 [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
15
|
(HPO:0000824)
|
Growth hormone deficiency |
1 of 4 [HPO:skoehler]
|
|
|
|
56 / 7739
|
|
16
|
(HPO:0000957)
|
Cafe-au-lait spot |
1 of 4 [HPO:skoehler]
|
|
|
|
84 / 7739
|
|
17
|
(HPO:0007429)
|
Few cafe-au-lait spots |
|
|
|
|
7 / 7739
|
|
18
|
(HPO:0007565)
|
Multiple cafe-au-lait spots |
|
|
|
|
11 / 7739
|
|
19
|
(HPO:0001256)
|
Intellectual disability, mild |
1 of 4 [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
20
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
21
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
22
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
23
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
24
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|
|
25
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
|
26
|
(HPO:0001682)
|
Subaortic stenosis |
|
|
|
|
17 / 7739
|
|
27
|
(HPO:0002007)
|
Frontal bossing |
1 of 4 [HPO:skoehler]
|
|
|
|
366 / 7739
|
|
28
|
(HPO:0002101)
|
Abnormal lung lobation |
1 of 4 [HPO:skoehler]
|
|
|
|
33 / 7739
|
|
29
|
(HPO:0002247)
|
Duodenal atresia |
1 of 4 [HPO:skoehler]
|
|
|
|
13 / 7739
|
|
30
|
(HPO:0100867)
|
Duodenal stenosis |
|
|
|
|
29 / 7739
|
|
31
|
(HPO:0001216)
|
Delayed ossification of carpal bones |
|
|
|
|
30 / 7739
|
|
32
|
(HPO:0002750)
|
Delayed skeletal maturation |
1 of 4 [HPO:skoehler]
|
|
|
|
250 / 7739
|
|
33
|
(HPO:0003196)
|
Short nose |
2 of 4 [HPO:skoehler]
|
|
|
|
264 / 7739
|
|
34
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
35
|
(HPO:0005280)
|
Depressed nasal bridge |
2 of 4 [HPO:skoehler]
|
|
|
|
381 / 7739
|
|
36
|
(HPO:0010535)
|
Sleep apnea |
1 of 4 [HPO:skoehler]
|
|
|
|
24 / 7739
|
|
37
|
(HPO:0010536)
|
Central sleep apnea |
|
|
|
|
4 / 7739
|
|
38
|
(HPO:0200040)
|
Epidermoid cyst |
occasional [HPO:skoehler]
|
|
|
|
35 / 7739
|
|
39
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
40
|
(OMIM)
|
Temporal bossing |
|
|
|
|
2 / 7739
|
|
41
|
(HPO:0000929)
|
Abnormality of the skull |
|
|
|
|
53 / 7739
|
|
42
|
(OMIM)
|
Narrow head |
|
|
|
|
2 / 7739
|
|
43
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
44
|
(HPO:0009117)
|
Aplasia/Hypoplasia of the maxilla |
|
|
|
|
18 / 7739
|
|
45
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
46
|
(OMIM)
|
Rhizomelic shortening of the upper limbs (in 2/4 patients) |
|
|
|
|
1 / 7739
|
|
47
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
48
|
(HPO:0001252)
|
Muscular hypotonia |
occasional [HPO:skoehler]
|
|
|
|
990 / 7739
|
|
49
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
50
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
51
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
52
|
(HPO:0008191)
|
Thyroid agenesis |
|
|
|
|
11 / 7739
|
|
53
|
(OMIM)
|
Mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy (50%) affecting all chromosomes |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Chromosomal structural abnormalities |
|
|
|
|
1 / 7739
|
|
55
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
56
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
57
|
(HPO:0012745)
|
Short palpebral fissure |
occasional [HPO:skoehler]
|
|
|
|
47 / 7739
|