|
1
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
|
2
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
5
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
6
|
(HPO:0000821)
|
Hypothyroidism |
|
|
|
|
141 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
11
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
14
|
(HPO:0006579)
|
Prolonged neonatal jaundice |
|
|
|
|
25 / 7739
|
|
15
|
(HPO:0008850)
|
Severe postnatal growth retardation |
|
|
|
|
16 / 7739
|
|
16
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
17
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
18
|
(OMIM)
|
Severe growth retardation in infancy |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Short nose with anteverted nostrils |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Open fontanelles (untreated hypothyroidism) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Myxedema |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
23
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
24
|
(OMIM)
|
Hypoplasia of anterior or entire pituitary gland (frequent) |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Low or absent growth hormone (GH) |
|
|
|
|
5 / 7739
|
|
26
|
(OMIM)
|
Low or absent thyroid-stimulating hormone (TSH) |
|
|
|
|
4 / 7739
|
|
27
|
(OMIM)
|
Low or absent prolactin (PL) |
|
|
|
|
3 / 7739
|
|
28
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|