|
1
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
2
|
(HPO:0000158)
|
Macroglossia |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
6
|
(HPO:0001537)
|
Umbilical hernia |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
7
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
8
|
(HPO:0002360)
|
Sleep disturbance |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
9
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
10
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
11
|
(HPO:0002019)
|
Constipation |
Very frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
12
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
13
|
(HPO:0000851)
|
Congenital hypothyroidism |
|
|
|
|
16 / 7739
|
|
14
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
|
15
|
(HPO:0001615)
|
Hoarse cry |
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
17
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
18
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
19
|
(HPO:0008850)
|
Severe postnatal growth retardation |
|
|
|
|
16 / 7739
|
|
20
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
21
|
(OMIM)
|
Growth retardation, severe (if untreated) |
|
|
|
|
5 / 7739
|
|
22
|
(OMIM)
|
Open posterior fontanelle |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
24
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
25
|
(OMIM)
|
Hypothyroidism, nongoitrous |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Low to normal TSH (values may vary depending on the measurement methods used) |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|