613192.1

Egypt

Intellectual disability, moderate; Hypotonia; Gait disturbance; EEG abnormality; Cerebral atrophy

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_024734.4:c.730C>T	2
NM_001160372.4:c.167_187dup	2		Intellectual Developmental Disorder, Autosomal Recessive 13

Authors classified the CLMN gene variant as a "confident" novel candidate for neurodevelopmental disorders.