Clefting

Gene: DDX3X

I don't know

PMID:26235985 - 38 female and three male patients with DDX3X variants were reported from multiple studies including the Deciphering Developmental Disorders (DDD) study, of which three females had cleft lip and/ or palate (one from the DDD study) and one male had bifid uvula.

PMID:27159028 - Two female patients were reported with DDX3X variants, of which one of them reported with severe ID and ataxic gait (c.856G>A/ p.Gly286Ser) also had cleft uvula.

Created: 15 Jun 2023, 11:03 a.m. | Last Modified: 15 Jun 2023, 6:47 p.m.

Panel Version: 4.12

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
Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958

Publications

• 26235985
• 27159028
• 37010288

Comment on mode of inheritance: Changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)- gene is encoded on Xp11.4

Created: 25 Sep 2017, 9:34 a.m.

I don't know

Causations is clear for ID. Clefting does not seem to be a consistent feature

Created: 26 May 2017, 7:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MENTAL RETARDATION, X-LINKED 102; MRX102