Growth failure
Gene: ZNF699
DEGCAGS syndrome is a neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anaemia or pancytopaenia, and immunodeficiency with recurrent infections.
12 unrelated families reported, 5 different homozygous frameshift variants.
Sources: LiteratureCreated: 19 Aug 2021, 9:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DEGCAGS syndrome, MIM# 619488
Publications
Gene: znf699 has been classified as Green List (High Evidence).
Gene: znf699 has been classified as Green List (High Evidence).
gene: ZNF699 was added gene: ZNF699 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF699 were set to 33875846 Phenotypes for gene: ZNF699 were set to DEGCAGS syndrome, MIM# 619488 Review for gene: ZNF699 was set to GREEN