|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
3
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0000966)
|
Hypohidrosis |
|
|
|
|
41 / 7739
|
|
5
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
8
|
(OMIM)
|
Microcephaly, borderline, acquired (in some patients) |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Normal numbers of sweat glands |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
11
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|