chromosome 1p36 deletion syndrome
MONDO:0011929Mondo
Findings
No curated finding names chromosome 1p36 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
Definition from the Mondo Disease Ontology (MONDO:0011929), read 2026-09-29. CC BY 4.0.
Features
150 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.
- Global developmental delayHPOHP:0001263
- 90 of 90 reported patients
- Very frequent (80% to 99% of cases)
- Horizontal eyebrowHPOHP:0011228
- 60 of 60 reported patients
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- 60 of 60 reported patients
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- 60 of 60 reported patients
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- 60 of 60 reported patients
- Very frequent (80% to 99% of cases)
- Neonatal hypotoniaHPOHP:0001319
- 57 of 60 reported patients · Congenital onset
- Deeply set eyeHPOHP:0000490
- 84 of 90 reported patients
- Very frequent (80% to 99% of cases)
- Pointed chinHPOHP:0000307
- 80 of 90 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 26 of 30 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- Short 5th fingerHPOHP:0009237
- 26 of 30 reported patients
- BrachydactylyHPOHP:0001156
- 58 of 70 reported patients
- Very frequent (80% to 99% of cases)
- Short footHPOHP:0001773
- 58 of 70 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 138
- Hearing impairmentHPOHP:0000365
- 23 of 28 reported patients
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Absent speechHPOHP:0001344
- Very frequent (80% to 99% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Very frequent (80% to 99% of cases)
- CamptodactylyHPOHP:0012385
- 48 of 60 reported patients
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
Where it sits
Other names
10 names
Resolves to: chromosome 1p36 deletion syndrome
- Also called
- 1p telomere deletion syndrome1p36 deletion syndrome1p36 microdeletion syndromechromosome 1p36 deletion syndrome, distal, isolated casesDel(1)(p36)deletion 1p36deletion 1ptermonosomy 1p36monosomy 1ptersubtelomeric 1p36 deletion