1
|
(HPO:0001513)
|
Obesity |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
2
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
4
|
(HPO:0000268)
|
Dolichocephaly |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
144 / 7739
|
5
|
(HPO:0000527)
|
Long eyelashes |
common [HPO]
|
|
|
|
46 / 7739
|
6
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
7
|
(HPO:0010769)
|
Pilonidal sinus |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
8
|
(HPO:0002046)
|
Heat intolerance |
typical [HPO]
|
|
|
|
13 / 7739
|
9
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
10
|
(HPO:0000574)
|
Thick eyebrow |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
96 / 7739
|
11
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
290 / 7739
|
12
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
13
|
(HPO:0000293)
|
Full cheeks |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
85 / 7739
|
14
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
15
|
(HPO:0007021)
|
Pain insensitivity |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
16
|
(HPO:0000307)
|
Pointed chin |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
45 / 7739
|
17
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
18
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
19
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
131 / 7739
|
20
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
20% [HPO]
|
|
18505557
|
IBIS
|
539 / 7739
|
21
|
(HPO:0100540)
|
Palpebral edema |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
31 / 7739
|
22
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
frequent [HPO]
|
|
18505557
|
IBIS
|
288 / 7739
|
23
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
typical [HPO]
|
|
18505557
|
IBIS
|
459 / 7739
|
24
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
25
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
frequent [HPO]
|
|
18505557
|
IBIS
|
1245 / 7739
|
26
|
(HPO:0001004)
|
Lymphedema |
Occasional [Orphanet]
frequent [HPO]
|
|
18505557
|
IBIS
|
62 / 7739
|
27
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
frequent [HPO]
|
|
|
|
576 / 7739
|
28
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
frequent [HPO]
|
|
|
|
371 / 7739
|
29
|
(HPO:0001176)
|
Large hands |
Very frequent [Orphanet]
common [HPO]
|
|
|
|
43 / 7739
|
30
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
31
|
(HPO:0000414)
|
Bulbous nose |
typical [HPO]
|
|
|
|
63 / 7739
|
32
|
(HPO:0001263)
|
Global developmental delay |
100% [HPO]
|
|
|
|
853 / 7739
|
33
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
34
|
(HPO:0012368)
|
Flat face |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
35
|
(HPO:0000076)
|
Vesicoureteral reflux |
occasional [HPO]
|
|
|
|
94 / 7739
|
36
|
(HPO:0000098)
|
Tall stature |
hallmark [HPO]
|
|
|
|
74 / 7739
|
37
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
occasional [HPO]
|
|
|
|
75 / 7739
|
38
|
(HPO:0000218)
|
High palate |
frequent [HPO]
|
|
|
|
356 / 7739
|
39
|
(HPO:0000252)
|
Microcephaly |
Very rare [HPO]
|
|
|
|
832 / 7739
|
40
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
41
|
(HPO:0000343)
|
Long philtrum |
frequent [HPO]
|
|
|
|
262 / 7739
|
42
|
(HPO:0000400)
|
Macrotia |
typical [HPO]
|
|
|
|
108 / 7739
|
43
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
44
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
45
|
(HPO:0000689)
|
Dental malocclusion |
frequent [HPO]
|
|
|
|
114 / 7739
|
46
|
(HPO:0000710)
|
Hyperorality |
common [HPO]
|
|
|
|
6 / 7739
|
47
|
(HPO:0000717)
|
Autism |
common [HPO]
|
|
|
|
108 / 7739
|
48
|
(HPO:0000718)
|
Aggressive behavior |
25% [HPO]
|
|
|
|
109 / 7739
|
49
|
(HPO:0000750)
|
Delayed speech and language development |
hallmark [HPO]
|
|
|
|
197 / 7739
|
50
|
(HPO:0000817)
|
Poor eye contact |
common [HPO]
|
|
18505557
|
IBIS
|
26 / 7739
|
51
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
52
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
53
|
(HPO:0001319)
|
Neonatal hypotonia |
hallmark [HPO]
|
|
|
|
101 / 7739
|
54
|
(HPO:0001629)
|
Ventricular septal defect |
occasional [HPO]
|
|
|
|
316 / 7739
|
55
|
(HPO:0001643)
|
Patent ductus arteriosus |
occasional [HPO]
|
|
|
|
228 / 7739
|
56
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
common [HPO]
|
|
|
|
74 / 7739
|
57
|
(HPO:0002020)
|
Gastroesophageal reflux |
frequent [HPO]
|
|
|
|
101 / 7739
|
58
|
(HPO:0002119)
|
Ventriculomegaly |
occasional [HPO]
|
|
|
|
253 / 7739
|
59
|
(HPO:0002136)
|
Broad-based gait |
typical [HPO]
|
|
|
|
30 / 7739
|
60
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
61
|
(HPO:0002188)
|
Delayed CNS myelination |
occasional [HPO]
|
|
|
|
16 / 7739
|
62
|
(HPO:0002317)
|
Unsteady gait |
typical [HPO]
|
|
|
|
45 / 7739
|
63
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
64
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
occasional [HPO]
|
|
|
|
24 / 7739
|
65
|
(HPO:0002572)
|
Episodic vomiting |
frequent [HPO]
|
|
18505557
|
IBIS
|
12 / 7739
|
66
|
(HPO:0003763)
|
Bruxism |
common [HPO]
|
|
|
|
7 / 7739
|
67
|
(HPO:0004691)
|
2-3 toe syndactyly |
frequent [HPO]
|
|
18505557
|
IBIS
|
50 / 7739
|
68
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
69
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
70
|
(HPO:0011120)
|
Concave nasal ridge |
|
|
|
|
9 / 7739
|
71
|
(HPO:0100658)
|
Cellulitis |
10% [HPO]
|
|
18505557
|
IBIS
|
7 / 7739
|
72
|
(HPO:0100702)
|
Arachnoid cyst |
15% [HPO]
|
|
18505557
|
IBIS
|
15 / 7739
|
73
|
(HPO:0100703)
|
Tongue thrusting |
15% [HPO]
|
|
18505557
|
IBIS
|
4 / 7739
|
74
|
(HPO:0100704)
|
Cortical visual impairment |
6% [HPO]
|
|
|
|
28 / 7739
|
75
|
(HPO:0100797)
|
Toenail dysplasia |
|
|
|
|
3 / 7739
|
76
|
(OMIM)
|
Normal to accelerated growth |
|
|
|
|
1 / 7739
|
77
|
(OMIM)
|
Asymmetric face |
|
|
|
|
5 / 7739
|
78
|
(OMIM)
|
Prominent brow |
|
|
|
|
2 / 7739
|
79
|
(OMIM)
|
Maxillary prognathism, mild |
|
|
|
|
1 / 7739
|
80
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
81
|
(OMIM)
|
Feeding difficulties, neonatal |
|
|
|
|
1 / 7739
|
82
|
(OMIM)
|
Large, fleshy hands |
|
|
|
|
1 / 7739
|
83
|
(OMIM)
|
Tendency to overheat |
|
|
|
|
1 / 7739
|
84
|
(OMIM)
|
Lack of perspiration |
|
|
|
|
1 / 7739
|
85
|
(OMIM)
|
Absent or delayed speech development |
|
|
|
|
1 / 7739
|
86
|
(OMIM)
|
Compromised expressive language development, severe |
|
|
|
|
1 / 7739
|
87
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
88
|
(OMIM)
|
Increased tolerance to pain |
|
|
|
|
1 / 7739
|
89
|
(OMIM)
|
Hyporeflexia, neonatal |
|
|
|
|
1 / 7739
|
90
|
(MedDRA:10000171)
|
Abnormal reflexes |
|
|
|
|
1 / 7739
|
91
|
(MedDRA:10038254)
|
Reflexes abnormal |
|
|
|
|
1 / 7739
|
92
|
(OMIM)
|
Inappropriate chewing behavior |
|
|
|
|
1 / 7739
|
93
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
94
|
(HPO:0000735)
|
Impaired social interactions |
|
|
|
|
20 / 7739
|
95
|
(OMIM)
|
Poor communication |
|
|
|
|
2 / 7739
|
96
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
97
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
98
|
(HPO:0000272)
|
Malar flattening |
typical [HPO]
|
|
|
|
277 / 7739
|
99
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
|
|
45 / 7739
|
100
|
(HPO:0000960)
|
Sacral dimple |
typical [HPO]
|
|
|
|
29 / 7739
|
101
|
(HPO:0000966)
|
Hypohidrosis |
typical [HPO]
|
|
|
|
41 / 7739
|
102
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
103
|
(HPO:0007328)
|
Impaired pain sensation |
common [HPO]
|
|
|
|
10 / 7739
|