606220.1.1

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

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
606220.1.2	Lebanon	Intellectual disability, severe ; Short stature ; Joint laxity; Microretrognathia; Obtuse angle of mandible; ;	Female	Yes	Yes	Sibling of 606220.1.1