162200.20.2

Saudi Arabia

Multiple cafe-au-lait spots; Axillary freckling; Global developmental delay; Global brain atrophy

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001042492.3:c.2998_2999del	1	NA	Neurofibromatosis, Type I

Relative of 162200.20.1; patient's parents are from the same village.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
162200.20.1	Saudi Arabia	Multiple cafe-au-lait spots; Axillary freckling; Global developmental delay; Global brain atrophy	Male	Yes		Patient's parents are from the same village.