606220.1.2

Lebanon

Intellectual disability, severe ; Short stature ; Joint laxity; Microretrognathia; Obtuse angle of mandible; ;

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_012158.3:c.445C>T	2		Intellectual Development Disorder with Short Stature, Facial Anomalies and Speech defects

Sibling of 606220.1.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
606220.1.1	Lebanon	Intellectual disability, severe ; Short stature ; Joint laxity; Microretrognathia; Obtuse angle of mandible; ;	Female	Yes	Yes