. 2018 Jul 9;141(8):2299–2311. doi: 10.1093/brain/awy173

Table 1.

Clinical characteristics of patients with BCL11B alterations

	Patient
Clinical findings	A:II-3	B:II-2	C:II-2	D:II-1	E:II-1	F:II-2	G:III-1	H:II-1	I:II-2	J:II-1	K:II-1	L:II-2
Sex	Female	Male	Male	Female	Male	Male	Female	Male	Male	Female	Male	Male
Ethnicity	Caucasian	Caucasian	Caucasian	Arab	Caucasian	Brazilian	Caucasian	Caucasian	Caucasian	Caucasian	Caucasian	North Africa
Age at last examination (years)	3 11/12	15 1/12	1 8/12	1 10/12	2 3/12	17 7/12	13	11	29	6 6/12	9 11/12	9 9/12
Cognitive and motor development
Intellectual disability	+	+	+	+	+	+	+	+	+	+	+	+
Speech impairment	+	+	+	+	+	+	+	+	+	+	+	+
Delay in motor development	+	+	+	+	+	+	+	+	−	+	+	+
Autistic features	+	−	+	−	−	−	+	+	−	−	−	−
Dysmorphic features
Myopathic facial appearance	+	−	+	+	+	−	+	−	−	+	−	−
Thin eyebrows	+	+	+	−	−	−	+	−	−	−	−	+
Small palpebral fissures	+	+	+	−	+	−	+	−	+	+	−	−
Hypertelorism	+	−	+	+	+	−	+	−	−	−	+	+
Prominent nose	+	+	+	−	+	+	+	+	+	−	−	+
Long philtrum	+	+	+	+	−	−	+	−	+	+	+	+
Thin upper lip vermilion	+	+	+	+	+	+	+	+	+	−	+	+
Other
Refractive error	Hyperopia	−	Hyperopia	−	−	Myopia	−	−	−	Myopia	Exotropia	−
Dental anomalies	+	+	−	−	+	+	−	−	−	−	−	+
Feeding difficulties	−	−	+	−	+	−	−	−	−	+	−	−
Immune system function
Immune response	−	Frequent infections^a	Frequent infections^a	−	Low TREC at birth	Frequent/atypical infections	−	−	−	−	−	Frequent infections^a
Allergy/asthma	−	−	+	−	+	+	−	+	−	+	+	+
BCL11B alteration	p.Gly820 Alafs*27	p.Gly649Ala fs*67	p.Ala891Pro fs*106	p.Thr502His fs*15	p.Asn807Lys	p.Cys81Leu fs*76	p.Asp534Thr fs*29	46,XY,t(4;14) (p15;q32.1)	46,XY,t(4;14) (q31.1;q32.2)	p.Glu499*	p.Tyr455*	p.Arg518Alafs*45

+ = present; − = absent; TREC = T cell receptor excision circles.

^aReported by the family.