Table 1

Mowat–Wilson syndrome and mutation in ZFHX1B; clinical data.^1,^4–¹⁴

Clinical features	1	2	Total patients(S)	% of total
1, patient 1 (male); 2, patient 2 (female); S, all 47 were sporadic cases, 32 of whom were males and 15 females; N, number of patients for whom data were available; NR, not relevant.
Facial characteristics
Sparse/fine hair	+	+	9/13(N)	69.2
High, broad forehead/frontal bossing	+	+	9/11	81.8
Medially flaring thick eyebrows	+	+	36/36	100.0
Hypertelorism	+	+	38/38	100.0
Strabismus	−	+	18/23	78.3
Deepset eyes	+	+	36/36	100.0
Epicanthus	+	−	8/13	61.5
Downward slanting palpebral fissures	+	+	11/15	73.3
Broad nasal bridge/saddle nose	+	+	42/43	97.7
Small nose, round tip/prominent columella	+	+	28/29	96.5
Open mouth	+	+	24/28	85.7
Prominent pointed chin/triangular jaw	+	+	40/40	100.0
Posterior lowset ears with uplifted lobes	+	+	36/36	100.0
Other malformations and problems
HSCR	+	+	30/47	63.8
Seizures	+	+	35/46	76.1
Congenital heart disease	−	+	22/47	46.8
Agenesis/hypoplasia of corpus callosum	+	+	15/33	45.4
Renal anomalies	+	−	10/27	37.0
Hypospadias	+	15 NR	12/25	48.0
Cryptorchidism	+	15 NR	11/25	44.0
Cleft submucous palate / high arched palate	+	+	10/27	37.0
Dermatoglyphic anomalies	+	+	8/9	88.8
Tapered fingers	+	+	16/19	84.2
Pes planus with calcaneovalgus	+	+	10/11	90.9
Mental retardation	+	+	47/47	100.0
Microcephaly (⩽3rd centile at last follow up)	+	+	40/46	86.9
Hypotonia	+	+	25/26	96.2
Short stature (<3rd centile at last follow up)	+	−	12/29	41.4
Happy, affectionate personality	+	+	24/25	96.0