chromosome 1p32-p31 deletion syndrome
Findings
No curated finding names chromosome 1p32-p31 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.
Definition from the Mondo Disease Ontology (MONDO:0013396), read 2026-09-29. CC BY 4.0.
Features
18 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.
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- VentriculomegalyHPOHP:0002119
- Very frequent (80% to 99% of cases)
- Abnormality of the urinary systemHPOHP:0000079
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Chiari type I malformationHPOHP:0007099
- Frequent (30% to 79% of cases)
Show the remaining 6
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Tethered cordHPOHP:0002144
- Frequent (30% to 79% of cases)
- CraniosynostosisHPOHP:0001363
- Occasional (5% to 29% of cases)
- Cutis marmorataHPOHP:0000965
- Occasional (5% to 29% of cases)
- Ocular hypertensionHPOHP:0007906
- Occasional (5% to 29% of cases)
- Moyamoya phenomenonHPOHP:0011834
- Very rare (1% to 4% 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.
- NFIAHGNC:7784
- Definitive · Illumina · Autosomal dominant · 2021
- Strong · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
3 names
Resolves to: chromosome 1p32-p31 deletion syndrome
- Also called
- 1p31p32 microdeletion syndromeDel(1)(p31p32)monosomy 1p31p32