Symptom Information: Sort according to HPO 

1
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
2
 (HPO:0000821) Hypothyroidism Very frequent [Orphanet] 141 / 7739
3
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
4
 (HPO:0000995) Melanocytic nevus Frequent [Orphanet] 63 / 7739
5
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
6
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
7
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
8
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
9
 (HPO:0002209) Sparse scalp hair 59 / 7739
10
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
11
 (HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
12
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
13
 (HPO:0000632) Lacrimation abnormality Frequent [Orphanet] 42 / 7739
14
 (HPO:0000832) Primary hypothyroidism 4 / 7739
15
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
16
 (HPO:0001025) Urticaria 73 / 7739
17
 (HPO:0002164) Nail dysplasia 82 / 7739
18
 (HPO:0002719) Recurrent infections 107 / 7739
19
 (HPO:0005938) Abnormal respiratory motile cilium morphology 7 / 7739
20
 (HPO:0007607) Hypohidrotic ectodermal dysplasia 5 / 7739
21
 (HPO:0012265) Ciliary dyskinesia 32 / 7739
22
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
23
 (OMIM) Ciliary dysgenesis 1 / 7739
24
 (OMIM) Increased mast cells and melanin deposition in skin 1 / 7739
25
 (OMIM) Abnormal microtubules in bronchial cilia by electron microscopy 1 / 7739
26
 (OMIM) Eyelashes normal 3 / 7739
27
 (OMIM) Urticaria pigmentosa-like skin and mucosal pigmentation 1 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739