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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)
  1. F Female, M Male, N Number, N/A Not applicable, NS Not specified