|
1
|
(HPO:0000445)
|
Wide nose |
Occasional [Orphanet]
|
|
|
|
190 / 7739
|
|
2
|
(HPO:0000453)
|
Choanal atresia |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
5
|
(HPO:0000478)
|
Abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
6
|
(HPO:0000426)
|
Prominent nasal bridge |
Frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
7
|
(HPO:0004760)
|
Congenital septal defect |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
8
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
9
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0003196)
|
Short nose |
Occasional [Orphanet]
|
|
|
|
264 / 7739
|
|
11
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
12
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
13
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
14
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
15
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
16
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
17
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
18
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
19
|
(HPO:0000338)
|
Hypomimic face |
|
|
|
|
8 / 7739
|
|
20
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
21
|
(HPO:0000384)
|
Preauricular skin tag |
|
|
|
|
62 / 7739
|
|
22
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
23
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
24
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
25
|
(HPO:0000652)
|
Lower eyelid coloboma |
|
|
|
|
9 / 7739
|
|
26
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
27
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
28
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
29
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
30
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
31
|
(HPO:0200138)
|
Bilateral choanal atresia/stenosis |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Oronasal fistula |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
34
|
(OMIM)
|
Hypoplastic/dysplastic kidney |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Normal development |
|
|
|
|
4 / 7739
|
|
36
|
(OMIM)
|
Abnormal karyotype in single reported female patient 46, XX,r(18)(p14q23) |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
39
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|