|
1
|
(HPO:0004760)
|
Congenital septal defect |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
4
|
(HPO:0000303)
|
Mandibular prognathia |
Occasional [Orphanet]
|
|
|
|
179 / 7739
|
|
5
|
(HPO:0000272)
|
Malar flattening |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
277 / 7739
|
|
6
|
(HPO:0009811)
|
Abnormality of the elbow |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
8
|
(HPO:0009775)
|
Amniotic constriction ring |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
|
9
|
(HPO:0000154)
|
Wide mouth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
10
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
11
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
|
12
|
(HPO:0005280)
|
Depressed nasal bridge |
Occasional [Orphanet]
|
|
|
|
381 / 7739
|
|
13
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
14
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
15
|
(HPO:0200055)
|
Small hand |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
16
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
17
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
18
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
|
19
|
(HPO:0007906)
|
Increased intraocular pressure |
|
|
|
|
30 / 7739
|
|
20
|
(HPO:0011800)
|
Midface retrusion |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
221 / 7739
|
|
21
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
22
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
23
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
24
|
(HPO:0011302)
|
Long palm |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
25
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
576 / 7739
|
|
26
|
(HPO:0002714)
|
Downturned corners of mouth |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
27
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
28
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
29
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
30
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
31
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
32
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
33
|
(HPO:0005922)
|
Abnormal hand morphology |
|
|
|
|
6 / 7739
|
|
34
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
35
|
(HPO:0010697)
|
Anterior pyramidal cataract |
|
|
|
|
22 / 7739
|
|
36
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
|
37
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
38
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
39
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
40
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
41
|
(HPO:0400004)
|
Long ear |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
42
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
43
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|