256520.3.1

Saudi Arabia

Neonatal death; Severe intrauterine growth retardation; Microcephaly; Micrognathia; Proptosis; Generalized edema; Ichthyosis; Oral cleft

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006623.4:c.418G>A	2		Neu-Laxova Syndrome 1

Index patient

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
256520.3.2	Saudi Arabia	Neonatal death; Severe intrauterine growth retardation; Microcephaly; Micrognathia; Proptosis; Generalized edema; Ichthyosis; Oral cleft	Female	Yes	Yes	Sister of 256520.3.2