chromosome 1q41-q42 deletion syndrome
Findings
No curated finding names chromosome 1q41-q42 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
Definition from the Mondo Disease Ontology (MONDO:0012927), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Sporadic
HPO, annotations 2026-09-02
Features
55 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.
- Frontal bossingHPOHP:0002007
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- 6 of 7 reported patients
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- 6 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- 5 of 6 reported patients
- Occasional (5% to 29% of cases)
- Abnormality of the faceHPOHP:0000271
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
Show the remaining 43
- Short statureHPOHP:0004322
- 2 of 5 reported patients
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- 3 of 4 reported patients
- Narrow foreheadHPOHP:0000341
- 3 of 4 reported patients
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- 3 of 5 reported patients
- Occasional (5% to 29% of cases)
- Deeply set eyeHPOHP:0000490
Where it sits
Other names
5 names
Resolves to: chromosome 1q41-q42 deletion syndrome
- Also called
- 1q41q42 microdeletion syndromechromosome 1q41-q42 deletion syndrome, isolated casesDel(1)(q41q42)monosomy 1q41-q42monosomy 1q41q42