|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
4
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
5
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
|
6
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
8
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
10
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
11
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
12
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
13
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
14
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
15
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
16
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
17
|
(OMIM)
|
Low birth length |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Poor somatic growth |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Microcephaly, severe |
|
|
|
|
4 / 7739
|
|
20
|
(OMIM)
|
Low sloping forehead |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Prominent helices |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
23
|
(OMIM)
|
Cerebral atrophy, severe |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Absence of the corpus callosum |
|
|
|
|
5 / 7739
|
|
25
|
(OMIM)
|
Loss of neurons affecting all cortical layers |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Little polarity in remaining neurons |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Abnormal cell orientation |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Poor dendritic maturation |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Cell degeneration |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
31
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|