|
1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001874)
|
Abnormality of neutrophils |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
3
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
6
|
(HPO:0011947)
|
Respiratory tract infection |
|
|
|
|
28 / 7739
|
|
7
|
(HPO:0000921)
|
Missing ribs |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
8
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
9
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
10
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
11
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0002714)
|
Downturned corners of mouth |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
15
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
16
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
18
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
19
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
20
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
21
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
22
|
(HPO:0002850)
|
IgM deficiency |
|
|
|
|
18 / 7739
|
|
23
|
(HPO:0003795)
|
Short middle phalanx of toe |
|
|
|
|
4 / 7739
|
|
24
|
(HPO:0004315)
|
IgG deficiency |
|
|
|
|
38 / 7739
|
|
25
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
|
26
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
27
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
28
|
(HPO:0009638)
|
Short proximal phalanx of thumb |
|
|
|
|
4 / 7739
|
|
29
|
(HPO:0010107)
|
Short proximal phalanx of hallux |
|
|
|
|
3 / 7739
|
|
30
|
(OMIM)
|
Micrognathia, mild |
|
|
|
|
8 / 7739
|
|
31
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
32
|
(OMIM)
|
Decreased IgG |
|
|
|
|
5 / 7739
|
|
33
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
34
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
35
|
(HPO:0011849)
|
Abnormal bone ossification |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
37
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|