Table 1.
Phenotypic features—HPO terminology
| VAC14 syndrome | Proband 1 (II-1) | Mother (I-1) | Father (I-2) | Sibling sister (II-6) |
|---|---|---|---|---|
| HP:0002376 Loss of developmental skills | Y | Y | N | Y |
| HP:0002317 Unsteady gait | Y | N | N | Y |
| HP:0002307 Drooling | Y | N | N | N |
| HP:0012179 Delayed speech | Y | N | N | Y |
| HP:0006957 Loss of ability to walk | Y | N | N | Y |
| HP:0006957 Hypotonia | Y | N | N | Y |
| HP:0000007 Autosomal recessive inheritance | Y | Y | Y | Y |
| HP:0001561 Polyhydramnios | N/A | Y | N | N |
| HP:0009381 Short fingers | Y | Y | N/A | Y |
| HP:0001263 Global developmental delay | Y | N/A | N/A | Y |
| HP:0000750 Delayed speech and language | Y | N/A | N/A | Y |
| HP:0002015 Dysphagia | Y | N/A | N/A | Y |
| HP:0001167 Abnormality of finger | N | Y | N/A | N/A |
| HP:0000518 Cataract | Y | N/A | N/A | Y |
(N/A) Not available, (Y) yes, present, (N) no, not present.