254090.4

Saudi Arabia

Failure to thrive; Macrocephaly; Hydrocephalus; Hypotonia; Rocker bottom foot

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001848.3:c.1693C>T	2		Ullrich Congenital Muscular Dystrophy 1

2 siblings died of hypotonia

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
254090.2	Saudi Arabia	Motor delay; Delayed speech and language development; Severe muscular hypotonia	Male	No
254090.3	Saudi Arabia	Microcephaly; Intellectual disability; Motor delay; Hypotonia; Abnormal facial shape	Female