261640.15.1

Oman

Hyperphenylalaninemia; Lethargy; Failure to thrive; Delayed speech and language development; Intellectual disability, mild; Hyperreflexia

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000317.3:c.400G>A	2		Hyperphenylalaninemia, BH4-Deficient, A

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
261640.15.2	Oman	Hyperphenylalaninemia; Delayed speech and language development; Intellectual disability, mild; Hyperreflexia	Female	Yes	Yes