616682.1.1

Syria

Global developmental delay; Hypotonia; Seizure; Intellectual disability; Microcephaly; Failure to thrive;

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000401.3:c.110C>T	2		Seizures, Scoliosis, and Macrocephaly/Microcephaly Syndrome

Proband. Variant also described as NM_207122.1:c.11C>T and NP_997005.1:p.Ser4Leu

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616682.1.2	Syria	Global developmental delay; Hypotonia; Seizure; Intellectual disability; Microcephaly; Gingival overgrowth	Male	Yes	Yes	Sibling of 616682.1.1