|
1
|
(HPO:0000457)
|
Depressed nasal ridge |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000992)
|
Cutaneous photosensitivity |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0011365)
|
Patchy hypopigmentation of hair |
Frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
5
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
6
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
7
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
8
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
9
|
(HPO:0000294)
|
Low anterior hairline |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
10
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
11
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
12
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
13
|
(HPO:0000520)
|
Proptosis |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
14
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
15
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
16
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
17
|
(HPO:0000670)
|
Carious teeth |
Very frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
18
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
19
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
20
|
(HPO:0000989)
|
Pruritus |
Very frequent [Orphanet]
|
|
|
|
111 / 7739
|
|
21
|
(HPO:0100577)
|
Urinary bladder inflammation |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0004452)
|
Abnormality of the middle ear ossicles |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
23
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
24
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
25
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
26
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
27
|
(HPO:0011302)
|
Long palm |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
28
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
29
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
30
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
31
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
32
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
33
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
34
|
(HPO:0000967)
|
Petechiae |
|
|
|
|
26 / 7739
|
|
35
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
36
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
37
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
38
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
39
|
(HPO:0002099)
|
Asthma |
|
|
|
|
62 / 7739
|
|
40
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
41
|
(HPO:0002725)
|
Systemic lupus erythematosus |
|
|
|
|
14 / 7739
|
|
42
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
43
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
|
44
|
(HPO:0006528)
|
Chronic lung disease |
|
|
|
|
5 / 7739
|
|
45
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
|
|
48 / 7739
|
|
46
|
(HPO:0006579)
|
Prolonged neonatal jaundice |
|
|
|
|
25 / 7739
|
|
47
|
(HPO:0007473)
|
Crusting erythematous dermatitis |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0007489)
|
Diffuse telangiectasia |
|
|
|
|
2 / 7739
|
|
49
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
50
|
(OMIM)
|
Upward or downward slanting palpebral fissures |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Low nasal root |
|
|
|
|
3 / 7739
|
|
52
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
|
|
87 / 7739
|
|
53
|
(OMIM)
|
Slender upper lip |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Impetigo-like eruptions |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Pruritic eczematous lesions |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Severe progressive ulceration of lower extremities |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Elevated immunoglobulins, particularly IgE |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Hyperimidodipeptiduria |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts |
|
|
|
|
1 / 7739
|
|
60
|
(HPO:0011362)
|
Abnormal hair quantity |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
61
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
62
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
63
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
64
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
65
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
66
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|