616038.2

Egypt

Microcephaly; Intrauterine growth retardation; Ichthyosis ; Hypertonia; Flexion contracture; Hypertelorism; Micrognathia

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_058179.4:c.296C>T	2		Neu-Laxova Syndrome 2