Table 1.

Phenotypic Characteristics of Patients with AHI1 Mutations

	Finding in Affected Individuala
Characteristic	10-1	115-1	115-3	144-2
National origin	Palestinian	Kuwaiti	Kuwaiti	Turkish
Exon with mutation	8	10	10	10
Nucleotide changes	787insC	T1328A	T1328A	1188–89delTG
Alterations in coding sequence	fsX270b	V443D	V443D	fsX408b
MTM	+	+	+	+
Cerebellar vermis aplasia/hypoplasia	+	+	+	+
Breathing abnormalities	+	NA	NA	+
Ataxia/hypotonia	+	+	+	+
Mental retardation	+	+	+	+
Oculomotor apraxia	+	+	+	+
Retinal involvement	NA	Rod-cone dysfunction	Rod-cone dysfunction	NA
Supratentorial abnormalities	Enlarged lateral ventricle	Thin corpus collosum, frontal polymicrogyria	Thin corpus collosum, frontal polymicrogyria	Thin corpus collosum, possible frontal polymicrogyria
Coloboma	−	−	−	−
Kidney involvement	−	−	−	NA
Other	−	−	−	Atrial septal heart defect

^aNA = not available; + = positive for the characteristic; − = negative for the characteristic.

^bfs = frameshift.