|
1
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000274)
|
Small face |
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
6
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
7
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
8
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
|
9
|
(HPO:0000588)
|
Optic nerve coloboma |
|
|
|
|
27 / 7739
|
|
10
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
11
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
14
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
15
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
16
|
(HPO:0001636)
|
Tetralogy of Fallot |
rare [HPO:skoehler]
|
|
|
|
104 / 7739
|
|
17
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
18
|
(HPO:0008586)
|
Hypoplasia of the cochlea |
|
|
|
|
4 / 7739
|
|
19
|
(OMIM)
|
Elongated face |
|
|
|
|
4 / 7739
|
|
20
|
(OMIM)
|
Narrow bifrontal diameter |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
22
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
23
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
24
|
(OMIM)
|
Bilateral hypoplastic cochlea |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Bilateral epicanthal folds |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Coloboma of the right optic disc |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Jugular hypoplasia |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Bilateral clinodactyly of the fifth fingers |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Syndactyly of the second and third toes |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Hypopigmented patches (in some patients) |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Hyperpigmented patches (in some patients) |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
33
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
34
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
35
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|