Prepair 1000+

Gene: NSDHL

Green List (high evidence)

X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. 25 affected males from three unrelated families have been reported. Heterozygous females are typically unaffected; however, some may experience mild behavior problems such as irritability or aggression. The NSDHL pathogenic variants c.455G>A, c.696_698delGAA, and c.1098dupT have been consistently associated with CK syndrome.

Other phenotype associated with this gene is CHILD syndrome (MIM #308050) not reportable for Prepair1000 as is X-linked dominant, only affects females, lethal before birth in hemizygous males.

See also GeneReviews PMID: 21290788

Created: 30 Dec 2024, 1:40 a.m. | Last Modified: 30 Dec 2024, 1:43 a.m.

Panel Version: 1.978

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
CK syndrome, MIM #300831

Publications

• PMID: 19842190
• 21129721
• 34091503
• 23042573