Overview
1p31p32 microdeletion 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.
Delayed fine motor development
Always present (100%)HP:0010862
Delayed gross motor development
Always present (100%)HP:0002194
Hydronephrosis
Always present (100%)HP:0000126
Hypoplasia of corpus callosum
Always present (100%)HP:0002079
Metopic synostosis
Always present (100%)HP:0011330
Mongoloid slant
Always present (100%)HP:0000582
Nostrils anteverted
Always present (100%)HP:0000463
Overfolded helix
Always present (100%)HP:0000396
Postnatal failure to thrive
Always present (100%)HP:0001508
Dilated cerebral ventricle
Very frequent (80-99%)HP:0002119
Hypoplastic or absent corpus callosum
Very frequent (80-99%)HP:0007370
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Abnormality of the urinary system
Frequent (30-79%)HP:0000079
Arnold Chiari type I malformation
Frequent (30-79%)HP:0007099
Big calvaria
Frequent (30-79%)HP:0000256
Central hypotonia
Frequent (30-79%)HP:0001252
Childhood attention deficit/hyperactivity disorder
Frequent (30-79%)HP:0007018
Epilepsy
Frequent (30-79%)HP:0001250
Frontal protuberance
Frequent (30-79%)HP:0002007
Intraventricular hemorrhage
Frequent (30-79%)HP:0030746
Occult spinal dysraphism
Frequent (30-79%)HP:0002144
OCD
Frequent (30-79%)HP:0000722
VUR
Frequent (30-79%)HP:0000076
Cutis marmorata
Occasional (5-29%)HP:0000965
Deformity of the skull
Occasional (5-29%)HP:0001363
Elevated IOP
Occasional (5-29%)HP:0007906
Moyamoya phenomenon
Very rare (1-4%)HP:0011834
Absence of corpus callosum
HP:0001274
Decreased volume of upper lip
HP:0000219
Fluid-filled cyst in spinal cord
HP:0003396
Related Conditions
Quick Facts
- SNOMED CT
- 766766005
- UMLS CUI
- C4707828
- Fully Specified Name
- 1p31p32 microdeletion 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.