Table 2 Clinical features of TUBA1A-associated tubulinopathy
From: The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
Clinical information | Born n (%) | Fetuses n (%) | Total n (%) |
|---|---|---|---|
Number of reported cases | 87 (100.0) | 20 (100.0) | 107 (100.0) |
Sex | 34f/38 m/15 ns | 7f/12 m/1 ns | 41f/50 m/16 ns |
Microcephaly (HP:0000252) | 47/53 (88.7) | 10/20 (50.0) | 57/75 (76.0) |
Normal | 8/53 (15.1) | 10/20 (50.0) | 18/75 (24.0) |
No information available | 32/87 (36.8) | 0/20 (0.0) | 32/107 (29.9) |
Congenital microcephaly (HP:0011451) | 25/36 (69.4) | n/a | 25/36 (69.4) |
Normal | 11/36 (30.6) | n/a | 11/36 (30.6) |
No information available | 51/87 (58.6) | n/a | 51/87 (58.6) |
Global developmental delay (HP:0001263) | 52/53 (98.1) | n/a | 52/53 (98.1) |
Normal | 1/53 (1.9) | n/a | 1/87 (1.1) |
No information available | 34/87 (39.1) | n/a | 34/87 (39.1) |
Other neurological symptoms | 39/40 (97.5) | n/a | 38/40 (95.0) |
Spasticity (HP:0001257) | 19/40 (47.5) | n/a | 23/40 (57.5) |
Muscular hypotonia (HP:0001252) | 10/40 (25.0) | n/a | 16/40 (40.0) |
Spasticity and muscular hypotonia (HP:0001257, HP:0001252) | 6/40 (15.0) | n/a | 6/40 (15.0) |
Other | 4/40 (10.0) | n/a | 4/40 (10.0) |
Normal | 1/40 (2.5) | n/a | 1/40 (2.5) |
No information available | 47/87 (54.0) | n/a | 47/87 (54.0) |
Epilepsy (HP:0001250) | 37/51 (72.5) | n/a | 37/52 (71.2) |
Generalized tonic-clonic seizures (HP:0002069) | 19/51 (37.3) | n/a | 19/52 (36.5) |
Infantile spasms (HP:0012469) | 4/51 (7.8) | n/a | 4/52 (7.7) |
Generalized tonic-clonic seizures and infantile spasms (HP:0002069, HP:0012469) | 5/51 (9.8) | n/a | 5/52 (9.6) |
Focal seizures (HP:0007359) | 8/51 (15.7) | n/a | 9/52 (17.3) |
Absent | 15/51 (29.4) | n/a | 15/52 (28.8) |
No information available | 35/87 (40.2) | n/a | 35/87 (40.2) |
Neuroophtalmological features | 26/29 (89.7) | 1/5 (20.0) | 27/35 (77.1) |
Strabismus (HP:0000486) | 14/29 (48.3) | n/a | 14/35 (40.0) |
Nystagmus (HP:0000639) | 3/29 (10.3) | n/a | 3/35 (8.6) |
Strabismus and nystagmus (HP:0000486, HP:0000639) | 4/29 (13.8) | n/a | 4/35 (11.4) |
Optic nerve hypoplasia (HP:0008058) | 6/29 (20.7) | 1/5 (20.0) | 7/35 (20.0) |
Absent | 4/29 (13.8) | 4/5 (80.0) | 8/35 (22.9) |
No information available | 57/87 (65.5) | 15/20 (75.0) | 72/107 (67.3) |
Facial anomalies (HP:0000271) | 21/29 (72.4) | 9/15 (60.0) | 30/44 (68.2) |
Micro−/retrognathia | 6/29 (20.7) | 7/15 (46.7) | 13/44 (30.0) |
Absent | 8/29 (27.6) | 6/15 (40.0) | 14/44 (31.8) |
No information available | 58/87 (66.7) | 5/20 (25.0) | 63/107 (58.9) |