616286.1

Country

Lebanon

HPO Terms

Delayed speech and language development; Generalized neonatal hypotonia; Respiratory distress; Arthrogryposis multiplex congenita; Global developmental delay; Motor delay; Failure to thrive; Polyhydramnios; Generalized-onset seizure

Back to search Result

Sex

Male

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003632.3:c.3361C>T	2		Lethal Congenital Contracture Syndrome 7

Download Table

References

Nair et al. 2018;
Sabbagh et al, 2020