619639.1.1

Saudi Arabia

Intellectual disability, severe; Poor speech; Loss of ambulation; Attention deficit hyperactivity disorder; Hypotonia; Lower limb spasticity; Seizure

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001204077.2:c.384G>A	2	NA	Neurodevelopmental Disorder with Hypotonia and Gross Motor and Speech Delay

Patient from 'family C' in Melo et al. 2021.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619639.1.2	Saudi Arabia	Intellectual disability, severe; Poor speech; Attention deficit hyperactivity disorder; Hypotonia; Seizure	Female	Yes	Yes	Sister of 619639.1.1
619639.1.3	Saudi Arabia		Male			Father of 619639.1.1
619639.1.4	Saudi Arabia		Female			Mother of 619639.1.1