Whole‐exome sequencing of three siblings in a Palestinian family exhibiting ataxia (neurological disfunction affecting movement) and hypogonadotropic hypogonadism (hormonal disorder in the hypothalamus/pituitary gland causing abnormal puberty and gonadogenesis in both men and women) found 13 homozygous variants predicted to be rare and deleterious in the third patient, where only two were shared between all three siblings (a mutation each in RNF216 and OTUD4). Here, RNF216 is linked to hypogonadotropic hypogonadism.