|
1
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
2
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
3
|
(HPO:0000523)
|
Subcapsular cataract |
|
|
|
|
12 / 7739
|
|
4
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
5
|
(HPO:0000598)
|
Abnormality of the ear |
|
|
|
|
98 / 7739
|
|
6
|
(HPO:0000637)
|
Long palpebral fissure |
|
|
|
|
21 / 7739
|
|
7
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
8
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
9
|
(HPO:0000966)
|
Hypohidrosis |
|
|
|
|
41 / 7739
|
|
10
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
13
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
14
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
15
|
(HPO:0002410)
|
Aqueductal stenosis |
|
|
|
|
19 / 7739
|
|
16
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
17
|
(HPO:0006097)
|
3-4 finger syndactyly |
|
|
|
|
7 / 7739
|
|
18
|
(HPO:0006358)
|
Shovel-shaped maxillary central incisors |
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0007385)
|
Aplasia cutis congenita of scalp |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0008401)
|
Onychogryposis of toenails |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Third and fourth finger syndactyly. Second and third toe syndactyly. |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Large palpebral fissures. |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Abnormally modeled ears. |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Peculiar face. |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Severe onychogryposis, esp. the great toes. |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Short hair. Abundant stiff hair. Sparse eyebrows. |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Normal height, weight, and head circumference. |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Constantly open mouth. |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Ectodermal dysplasia. Mild hypohidrosis. Dry skin. |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
31
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|