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Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
disorderSNOMED 773400009CUI C4750837
Overview
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Autism
Always present (100%)HP:0000717
Autoagression
Always present (100%)HP:0100716
Columella, short
Always present (100%)HP:0002000
Delayed language development
Always present (100%)HP:0000750
Dilatation of lateral cerebral ventricles
Always present (100%)HP:0006956
Feet or buttocks of fetus positioned near opening of uterus
Always present (100%)HP:0001623
Flat nasal bridge
Always present (100%)HP:0005280
Fullness around the eyes
Always present (100%)HP:0000629
Metopic suture craniosynostosis
Always present (100%)HP:0011330
Nasogastric tube feeding
Always present (100%)HP:0040288
Palpebronasal fold
Always present (100%)HP:0000286
Repetitive behaviour Stereotypic behaviour
Always present (100%)HP:0000733
Severe psychomotor retardation
Always present (100%)HP:0011344
Sloping forehead
Always present (100%)HP:0000340
Undergrowth
Always present (100%)HP:0001508
Vomiting
Always present (100%)HP:0002013
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Feeding difficulties
Very frequent (80-99%)HP:0011968
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Hypotonia, early
Very frequent (80-99%)HP:0008947
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Poor school performance
Very frequent (80-99%)HP:0001249
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
ASD
Frequent (30-79%)HP:0000729
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Caesarean section
Frequent (30-79%)HP:0011410
Decreased size of cranium
Frequent (30-79%)HP:0000252
Deep palmar creases
Frequent (30-79%)HP:0006191
Gastro-esophageal reflux
Frequent (30-79%)HP:0002020
High arched palate
Frequent (30-79%)HP:0000218
Quick Facts
- SNOMED CT
- 773400009
- UMLS CUI
- C4750837
- Fully Specified Name
- Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.