… In this study, we reported a CLIFAHDD infant with a NALCN gene variant (c.4300A>G, p.…
, we first described CLIFAHDD phenotypes associated with a variant of the NALCN gene (c.…

… genetic variant in the sodium leak channel, non-selective (NALCN) gene that is associated
with CLIFAHDD syndrome. … , up to 40 patients with CLIFAHDD syndrome have been reported, …

… Our patient clinical phenotype is highly 177 specific for CLIFAHDD syndrome, which was
caused by a variation in the NALCN. 3.3 Prenatal diagnosis and follow-up 179 …

… gene(s) for CLIFAHDD syndrome, we first screened the proband of each of the five families
putatively diagnosed with CLIFAHDD syndrome … Furthermore, each inherited variant found in …

… CLIFAHDD syndrome who was initially suspected of having congenital myasthenic syndrome
(… therapy and characterize its potential beneficial mechanism in patients with CLIFAHDD. …

… -Sheldon syndrome, or distal arthrogryposis type 2A (DA2A). Clinical features of CLIFAHDD
… Interestingly, CS/CISS was considered in the differential diagnosis for CLIFAHDD syndrome …

… Biallelic loss of function variants in NALCN gene is reported to cause IHPRF type-… variants
cause the dominantly inherited disorder-CLIFAHDD (OMIM 616266). IHPRF-1 and CLIFAHDD …

… of predicted effects of rare variants and known function of the genes and associated human
… de novo variants in the same gene identified variants in NALCN as likely gene damaging in …

… The discoveries of pathogenic variants in NALCN, MAGEL2 … -like syndrome, respectively
into CLIFAHDD, SHFYNG or EIEE11 … Genetic variation at genes linked to Mendelian disorders …

… inherited variants lead to congenital contractures of the limbs and face, hypotonia, and
developmental delay (CLIFAHDD, MIM: #616266), while recessively inherited … with CLIFAHDD …