human ABL1 deficiency syndrome
MONDO:1060290
A multiple congenital anomalies/dysmorphic syndrome caused by homozygous loss-of-function variants in the ABL1 gene. It is characterized by multiple congenital malformations (wormian skull bones and brachydactyly) and distinctive facial dysmorphism (hypertelorism, prominent eyes, short, broad and flat nose, and macrostomia). It is allelic to, but clinically distinct from, congenital heart defects and skeletal malformations syndrome, which is caused by germline gain-of-function variants in ABL1.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
Recruiting studies by city
Trial status
Trial phase
Study start year
Investigated drug interventions
Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.