growth delay due to insulin-like growth factor type 1 deficiency
Findings
No curated finding names growth delay due to insulin-like growth factor type 1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0012110), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
46 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.
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Decreased body weightHPOHP:0004325
- 1 of 1 reported patient
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Elevated circulating growth hormone concentrationHPOHP:0000845
- 1 of 1 reported patient
- HyperactivityHPOHP:0000752
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 34
- Postnatal growth retardationHPOHP:0008897
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Short attention spanHPOHP:0000736
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Abnormal facial shape
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.
- IGF1HGNC:5464
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
4 names
Resolves to: growth delay due to insulin-like growth factor type 1 deficiency
- Also called
- growth delay-deafness- intellectual disability syndromegrowth retardation with deafness and mental retardation due to IGF1 deficiencyIGF-1 deficiencyprimary insulin-like growth factor deficiency