severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
MONDO:0014205Mondo
Findings
No curated finding names severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
105 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AutismHPOHP:0000717
- 1 of 1 reported patient
- Breech presentationHPOHP:0001623
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 12 of 12 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 16 of 16 reported patients
- Very frequent (80% to 99% of cases)
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 1 reported patient
- Metopic synostosisHPOHP:0011330
- 1 of 1 reported patient
- Motor stereotypyHPOHP:0000733
- 1 of 1 reported patient
- Nasogastric tube feedingHPOHP:0040288
- 3 of 3 reported patients
Show the remaining 93
- Periorbital fullnessHPOHP:0000629
- 1 of 1 reported patient
- Self-injurious behaviorHPOHP:0100716
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 4 of 4 reported patients
- Short columellaHPOHP:0002000
- 1 of 1 reported patient
- Sloping foreheadHPOHP:0000340
- 1 of 1 reported patient
- Upslanted palpebral fissureHPOHP:0000582
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ASXL3HGNC:29357
- Definitive · Illumina · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
- Also called
- ASXL3-Related DisorderBainbridge-Roppers syndrome