1
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
2
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
3
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
4
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
5
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
6
|
(HPO:0005989)
|
Redundant neck skin |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
7
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
8
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
9
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
|
|
185 / 7739
|
10
|
(HPO:0000627)
|
Posterior embryotoxon |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
11
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
12
|
(HPO:0001088)
|
Brushfield spots |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
13
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
14
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
15
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
16
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
17
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
18
|
(HPO:0001399)
|
Hepatic failure |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
19
|
(HPO:0001622)
|
Premature birth |
Frequent [Orphanet]
|
|
|
|
100 / 7739
|
20
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
21
|
(HPO:0001928)
|
Abnormality of coagulation |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
22
|
(HPO:0002021)
|
Pyloric stenosis |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
23
|
(HPO:0002024)
|
Malabsorption |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
24
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
25
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
26
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
27
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
28
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
29
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
30
|
(HPO:0000835)
|
Adrenal hypoplasia |
|
|
|
|
23 / 7739
|
31
|
(HPO:0008207)
|
Primary adrenal insufficiency |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
32
|
(HPO:0000356)
|
Abnormality of the outer ear |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
33
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
34
|
(HPO:0010458)
|
Female pseudohermaphroditism |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
35
|
(HPO:0010655)
|
Epiphyseal stippling |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
36
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
37
|
(HPO:0000158)
|
Macroglossia |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
38
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
39
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
40
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
41
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
42
|
(HPO:0001992)
|
Organic aciduria |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
43
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
44
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
45
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
46
|
(HPO:0002536)
|
Abnormal cortical gyration |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
47
|
(HPO:0002015)
|
Dysphagia |
Very frequent [Orphanet]
|
|
|
|
301 / 7739
|
48
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
49
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
50
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
51
|
(HPO:0000479)
|
Abnormality of the retina |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
52
|
(HPO:0000107)
|
Renal cyst |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
53
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
54
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
55
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
56
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
57
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
58
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
59
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
60
|
(HPO:0000057)
|
Clitoromegaly |
|
|
|
|
30 / 7739
|
61
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
62
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
63
|
(HPO:0000244)
|
Brachyturricephaly |
|
|
|
|
9 / 7739
|
64
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
65
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
66
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
67
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
68
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
69
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
70
|
(HPO:0000512)
|
Abnormal electroretinogram |
|
|
|
|
61 / 7739
|
71
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
72
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
73
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
74
|
(HPO:0001193)
|
Ulnar deviation of the hand or of fingers of the hand |
|
|
|
|
17 / 7739
|
75
|
(HPO:0001401)
|
Intrahepatic biliary dysgenesis |
|
|
|
|
5 / 7739
|
76
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
77
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
78
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
|
|
35 / 7739
|
79
|
(HPO:0001623)
|
Breech presentation |
|
|
|
|
16 / 7739
|
80
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
81
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
82
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
83
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
84
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
85
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
86
|
(HPO:0002282)
|
Heterotopia |
|
|
|
|
21 / 7739
|
87
|
(HPO:0002416)
|
Subependymal cysts |
|
|
|
|
6 / 7739
|
88
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
89
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
90
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
91
|
(HPO:0003455)
|
Elevated long chain fatty acids |
|
|
|
|
8 / 7739
|
92
|
(HPO:0004492)
|
Widely patent fontanelles and sutures |
|
|
|
|
11 / 7739
|
93
|
(HPO:0004734)
|
Renal cortical microcysts |
|
|
|
|
10 / 7739
|
94
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
95
|
(HPO:0006579)
|
Prolonged neonatal jaundice |
|
|
|
|
25 / 7739
|
96
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
97
|
(HPO:0006894)
|
Hypoplastic olfactory lobes |
|
|
|
|
2 / 7739
|
98
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
|
|
|
|
180 / 7739
|
99
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
100
|
(HPO:0010808)
|
Protruding tongue |
|
|
|
|
28 / 7739
|
101
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
102
|
(HPO:0011039)
|
Abnormality of the helix |
|
|
|
|
33 / 7739
|
103
|
(HPO:0012592)
|
Albuminuria |
|
|
|
|
6 / 7739
|