|
1
|
(HPO:0000062)
|
Ambiguous genitalia |
|
|
|
|
74 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
4
|
(HPO:0000457)
|
Depressed nasal ridge |
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
6
|
(HPO:0000830)
|
Anterior hypopituitarism |
|
|
|
|
9 / 7739
|
|
7
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
8
|
(HPO:0006989)
|
Dysplastic corpus callosum |
|
|
|
|
7 / 7739
|
|
9
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
10
|
(HPO:0010557)
|
Overlapping fingers |
|
|
|
|
9 / 7739
|
|
11
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
12
|
(OMIM)
|
Radiolucent midshaft tibial notch. |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000202)
|
Oral cleft |
|
|
|
|
120 / 7739
|
|
14
|
(OMIM)
|
Short limbs. Digital anomalies. Camptodactyly. Overlapping fingers. Flexion finger deformity. No polydactyly. |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|