Table 2.
Phenotypic features of ENTPD1-related neurological disease
| Clinical features | This cohort | Prior publications | All affected individuals |
|---|---|---|---|
|
| |||
| Early childhood age of onset (HP:0011463) | 22/22 | 9/9 | 31/31 |
| Developmental delay/intellectual disability (HP:0012758) | 22/22 | 9/9 | 31/31 |
| Progressive spastic paraplegia (HP:0007020) | 22/22 | 9/9 | 31/31 |
| Gait impairment (HP:0002355) | 22/22 | 9/9 | 31/31 |
| Abnormal reflexes (HP:0031826) | 11/22 | 9/9 | 20/31 |
| Dysarthria (HP:0001260) | 13/22 | 7/9 | 20/31 |
| Developmental regression (HP:0002376) | 15/22 | 3/9 | 18/31 |
| Dysmorphic facies (HP:0001999) | 16/22 | NR | 16/31 |
| Weakness (HP:0001324) | 14/22 | 3/9 | 17/31 |
| Behavioural abnormalities (HP:0000708) | 10/22 | 5/9 | 15/31 |
| Cerebral hypomyelination (HP:0006808) | 11/18 | 3/8 | 14/26 |
| Neuropathy (HP:0009830) | 13/22 | NR | 13/31 |
| Hand and foot deformities (HP:0001155 and 0001760) | 8/22 | 3/9 | 11/31 |
| Hypotonia (HP:0001252) | 5/22 | NR | 5/31 |
| Cataracts (HP:0000518) | 3/22 | 1/9 | 4/31 |
| Epilepsy (HP:0001250) | 2/22 | NR | 2/31 |
| Scoliosis (HP:0002650) | 3/22 | NR | 3/31 |
NR-not reported