|
1
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
2
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
3
|
(HPO:0000597)
|
Ophthalmoparesis |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
4
|
(HPO:0002270)
|
Abnormality of the autonomic nervous system |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
5
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
6
|
(HPO:0000046)
|
Scrotal hypoplasia |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0002045)
|
Hypothermia |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0002104)
|
Apnea |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
9
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
10
|
(HPO:0000062)
|
Ambiguous genitalia |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
11
|
(HPO:0002099)
|
Asthma |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0001695)
|
Cardiac arrest |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
13
|
(HPO:0006543)
|
Cardiorespiratory arrest |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
15
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
16
|
(HPO:0011675)
|
Arrhythmia |
Very frequent [Orphanet]
|
|
|
|
226 / 7739
|
|
17
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
18
|
(HPO:0000033)
|
Ambiguous genitalia, male |
|
|
|
|
9 / 7739
|
|
19
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
20
|
(HPO:0001308)
|
Tongue fasciculations |
|
|
|
|
18 / 7739
|
|
21
|
(HPO:0001662)
|
Bradycardia |
|
|
|
|
41 / 7739
|
|
22
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
23
|
(HPO:0004305)
|
Involuntary movements |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
24
|
(HPO:0008708)
|
Partial development of the penile shaft |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0008715)
|
Testicular dysgenesis |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0008733)
|
Dysplastic testes |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
28
|
(HPO:0010307)
|
Stridor |
|
|
|
|
19 / 7739
|
|
29
|
(OMIM)
|
Facial nerve weakness |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Ocular muscle palsies |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Variable heart rate (range 52-250 beats per minute) |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0002793)
|
Abnormal pattern of respiration |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
33
|
(MedDRA:10023891)
|
Laryngospasm |
|
|
|
|
4 / 7739
|
|
34
|
(OMIM)
|
Gastroesophageal reflux, severe |
|
|
|
|
3 / 7739
|
|
35
|
(OMIM)
|
Variable maturation of genitalia in males |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Tortuous vascularity in the testes |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Arrested cell development in the testes |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Decreased number of Leydig cells |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Decreased number of Sertoli cells |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Visceroautonomic dysfunction |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Decreased upper extremity reflexes |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Hyperactive startle reflex |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Ocular palsies |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Absence of neuropathologic findings in the brainstem and anterior horn cells |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Staccato cry ('goat-like') |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Abnormal response to human chorionic gonadotropin indicates decreased testosterone |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
48
|
(HPO:0002577)
|
Abnormality of the stomach |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
49
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
50
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
51
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|