602875.2.1

Lebanon

Short stature; Severe short-limb dwarfism;

Unknown

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003995.3:c.2304_2307delTTGGinsCTGATGGA	2		Acromesomelic Dysplasia, Maroteaux Type

This patient may have other affected siblings.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
602875.2.2	Lebanon		Female	No		Mother of patient 602875.2.1
602875.2.3	Lebanon		Male	No		Father of patient 602875.2.1