Table 8. .

Clinical Phenotype of the Cohort of FA-D2 Patients

Malformation	No. of Affected/Totala	Frequency (%)
Symptom:
Microcephaly	25/28	89
(Intrauterine) growth retardation	25/29	86
Anomalies of skin pigmentation	21/28	75
Radial-ray defects	21/29	72
Microphthalmia	17/28	61
Renal anomalies	10/28	36
Malformations of the external ear	9/28	32
Brain anomalies	9/29	31
Including hydrocephalus	5/29	17
Psychomotor retardationb	8/28	29
Hypogonadism/genital anomalies	7/28	25
Hip dysplasia/dislocation	6/28	21
Heart anomalies	4/28	14
Malformations of the gastrointestinal tract	4/28	14
Distinct syndromic association:
Michelin-tire baby syndrome (MIM 156610)	2/28	7
VACTERL-like association (MIM 192350)	1/28	4
Holoprosencephaly (MIM 236100)	1/28	4
Kartagener syndrome (MIM 244400)	1/28	4

^aA prenatal case (number 19) was partially informative. Pertinent information was used where applicable.

^bIncluding attention-deficit/hyperactivity disorder.