228600.4.2

Kuwait

Multiple joint contractures; Skin nodule; Gingival fibromatosis; Diarrhea; Failure to thrive;

Unknown

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_058172.5:c.1074delT	2		Hyaline Fibromatosis Syndrome

Sibling of 228600.4.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
228600.4.1	Kuwait	Multiple joint contractures; Skin nodule; Gingival fibromatosis; Diarrhea; Failure to thrive;	Unknown	Yes