chromosome 19q13.11 deletion syndrome
Findings
No curated finding names chromosome 19q13.11 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.
Definition from the Mondo Disease Ontology (MONDO:0013090), read 2026-09-29. CC BY 4.0.
Features
40 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 cutis congenitaHPOHP:0001057
- Very frequent (80% to 99% of cases)
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Feeding difficultiesHPOHP:0011968
- Very frequent (80% to 99% of cases)
Show the remaining 28
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
- Fine hairHPOHP:0002213
- Frequent (30% to 79% of cases)
- Finger syndactylyHPOHP:0006101
- Frequent (30% to 79% of cases)
- High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
- Long faceHPOHP:0000276
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: chromosome 19q13.11 deletion syndrome
- Also called
- 19q13.11 microdeletion syndromeDel(19)(q13.11)monosomy 19q13.11