218000.1

United Arab Emirates

Generalized hypotonia; Global developmental delay; Ataxia; Talipes equinovarus; Pes cavus ; Kyphoscoliosis; Polyneuropathy ; Abnormal facial shape

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001365088.1:c.745+2T>A	2		Agenesis of the Corpus Callosum with Peripheral Neuropathy

Similarly affected sister